{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T08:26:10Z","timestamp":1787300770193,"version":"build-2736575974"},"reference-count":326,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T00:00:00Z","timestamp":1787270400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100032756","name":"Sirius University of Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100032756","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Mol. Biosci."],"abstract":"<jats:p>Nonsense-mediated mRNA decay (NMD) is a basic post-transcriptional mechanism ensuring the fidelity of many biological processes including brain development. Together with alternative splicing, it regulates the inclusion of poison exons. NMD is involved in the control of multiple processes during brain development such as neural progenitor proliferation and differentiation, neuronal migration, axonal guidance, and synaptic plasticity. Under physiological conditions, this mechanism safeguards neuronal identity and the functional maturation of the brain. When disrupted, the consequences range from structural cerebral anomalies to cognitive impairment and epilepsy. This review examines NMD-mediated regulatory mechanisms across different stages of brain development. Special emphasis is placed on how dysfunction in NMD pathway components\u2014specifically core degradation factors, the exon junction complex, and neuron-specific splicing regulators\u2014underpins an extensive array of neurodevelopmental disorders (NDDs). Furthermore, we delineate the relationship between the position of a premature termination codon (PTC) within a transcript and the resulting molecular outcome. While the degradation of aberrant mRNAs often leads to haploinsufficiency, their escape from NMD might result in the accumulation of truncated proteins with dominant-negative effects, thereby causing specific clinical phenotypes in affected patients. Elucidating these mechanisms is essential for both the interpretation of variant pathogenicity and the development of targeted therapeutic strategies.<\/jats:p>","DOI":"10.3389\/fmolb.2026.1914793","type":"journal-article","created":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T08:07:28Z","timestamp":1787299648000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Nonsense-mediated mRNA decay and associated splicing patterns in neurodevelopmental disorders"],"prefix":"10.3389","volume":"13","author":[{"given":"Polina","family":"Anisimova","sequence":"first","affiliation":[{"name":"Institute of Neuroscience, Lobachevsky State University of Nizhny Novgorod","place":["Nizhny Novgorod, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia","family":"Filat\u2019eva","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience, Lobachevsky State University of Nizhny Novgorod","place":["Nizhny Novgorod, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Tarabykin","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience, Lobachevsky State University of Nizhny Novgorod","place":["Nizhny Novgorod, Russia"]},{"name":"Department of Genetics and Life Sciences, Sirius University of Science and Technology","place":["Sochi, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Kondakova","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience, Lobachevsky State University of Nizhny Novgorod","place":["Nizhny Novgorod, Russia"]},{"name":"Department of Genetics and Life Sciences, Sirius University of Science and Technology","place":["Sochi, Russia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,8,21]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1002\/ajmg.a.62550","article-title":"Expanding the phenotypic and allelic spectrum of SMG8: clinical observations reveal overlap with SMG9-associated disease trait","volume":"188","author":"Abdel-Salam","year":"2022","journal-title":"Am. J. Med. Genet. Part A"},{"key":"B2","doi-asserted-by":"publisher","first-page":"18862","DOI":"10.1038\/s41598-022-22036-z","article-title":"The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 Middle Eastern families","volume":"12","author":"Al-Kasbi","year":"2022","journal-title":"Sci. Rep."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1624","DOI":"10.1002\/ajmg.a.62139","article-title":"Further delineation of SMG9 \u2010related heart and brain malformation syndrome","volume":"185","author":"Altuwaijri","year":"2021","journal-title":"Am. J. Med. Genet. Part A"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1178","DOI":"10.1016\/j.ajhg.2020.11.007","article-title":"Recessive, deleterious variants in SMG8 expand the role of nonsense-mediated decay in developmental disorders in humans","volume":"107","author":"Alzahrani","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"B5","doi-asserted-by":"publisher","first-page":"304","DOI":"10.3389\/fnmol.2018.00304","article-title":"Post-transcriptional processing of mRNA in neurons: the vestiges of the RNA world drive transcriptome diversity","volume":"11","author":"Andreassi","year":"2018","journal-title":"Front. Mol. Neurosci."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1192","DOI":"10.3390\/cells11071192","article-title":"The physiological roles of the exon junction complex in development and diseases","volume":"11","author":"Asthana","year":"2022","journal-title":"Cells"},{"key":"B7","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1016\/j.cub.2006.01.018","article-title":"The human RNA surveillance factor UPF1 is required for S phase progression and genome stability","volume":"16","author":"Azzalin","year":"2006","journal-title":"Curr. Biol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"281","DOI":"10.4161\/nucl.29577","article-title":"\u201cDark Matter\u201d worlds of unstable RNA and protein","volume":"5","author":"Baboo","year":"2014","journal-title":"Nucleus"},{"key":"B9","doi-asserted-by":"publisher","first-page":"102346","DOI":"10.1016\/j.gde.2025.102346","article-title":"No more nonsense: evaluating poison exons as therapeutic targets in neurodevelopmental disorders","volume":"92","author":"Bakshi","year":"2025","journal-title":"Curr. Opin. Genet. Dev."},{"key":"B10","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1038\/nsmb990","article-title":"The exon junction core complex is locked onto RNA by inhibition of eIF4AIII ATPase activity","volume":"12","author":"Ballut","year":"2005","journal-title":"Nat. Struct. Mol. Biol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1007\/s00401-020-02203-0","article-title":"The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis","volume":"140","author":"Bampton","year":"2020","journal-title":"Acta Neuropathol."},{"key":"B12","doi-asserted-by":"publisher","first-page":"785","DOI":"10.3390\/biom13050785","article-title":"The SLIT\/ROBO pathway in liver fibrosis and cancer","volume":"13","author":"Basha","year":"2023","journal-title":"Biomolecules"},{"key":"B13","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1038\/s41398-020-00994-0","article-title":"Presynaptic dysfunction in CASK-related neurodevelopmental disorders","volume":"10","author":"Becker","year":"2020","journal-title":"Transl. Psychiatry"},{"key":"B14","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1038\/s41594-020-0475-8","article-title":"Concentration-dependent splicing is enabled by rbfox motifs of intermediate affinity","volume":"27","author":"Begg","year":"2020","journal-title":"Nat. Struct. Mol. Biol."},{"key":"B15","doi-asserted-by":"publisher","first-page":"3374","DOI":"10.1007\/s12033-024-01267-7","article-title":"Nonsense-mediated mRNA decay in human health and diseases: current understanding, regulatory mechanisms and future perspectives","volume":"67","author":"Behera","year":"2025","journal-title":"Mol. Biotechnol."},{"key":"B16","doi-asserted-by":"publisher","first-page":"e1011363","DOI":"10.1371\/journal.pgen.1011363","article-title":"An autoregulatory poison exon in Smndc1 is conserved across kingdoms and influences organism growth","volume":"20","author":"Belleville","year":"2024","journal-title":"PLOS Genet."},{"key":"B17","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1002\/ajmg.a.64264","article-title":"The de novo p.(Ser802Phe) variant causes Helsmoortel\u2010Van der Aa\/ADNP syndrome in a 24\u2010year\u2010old woman and is predicted to perturb ADNP-DNA affinity","volume":"200","author":"Benvenuto","year":"2026","journal-title":"Am. J. Med. Genet. Part A"},{"key":"B18","doi-asserted-by":"publisher","first-page":"800","DOI":"10.1111\/cge.13169","article-title":"Richieri\u2010costa\u2010pereira syndrome: expanding its phenotypic and genotypic spectrum","volume":"93","author":"Bertola","year":"2018","journal-title":"Clin. Genet."},{"key":"B19","doi-asserted-by":"publisher","first-page":"3965","DOI":"10.1038\/s41467-021-24046-3","article-title":"SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity","volume":"12","author":"Boehm","year":"2021","journal-title":"Nat. Commun."},{"key":"B20","doi-asserted-by":"publisher","first-page":"3524","DOI":"10.1016\/j.molcel.2025.08.015","article-title":"Rapid UPF1 depletion illuminates the temporal dynamics of the NMD-regulated human transcriptome","volume":"85","author":"Boehm","year":"2025","journal-title":"Mol. Cell"},{"key":"B21","doi-asserted-by":"publisher","first-page":"790","DOI":"10.1016\/j.ajhg.2023.03.016","article-title":"SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability","volume":"110","author":"Bogaert","year":"2023","journal-title":"Am. J. Hum. Genet."},{"key":"B22","doi-asserted-by":"publisher","first-page":"e2517478123","DOI":"10.1073\/pnas.2517478123","article-title":"Nonsense-mediated decay controls a negative feedback loop in innate immune sensing","volume":"123","author":"Boudreault","year":"2026","journal-title":"Proc. Natl. Acad. Sci."},{"key":"B23","doi-asserted-by":"publisher","first-page":"1220","DOI":"10.1002\/humu.24021","article-title":"TAR syndrome: clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A","volume":"41","author":"Boussion","year":"2020","journal-title":"Hum. Mutat."},{"key":"B24","doi-asserted-by":"publisher","first-page":"1636","DOI":"10.1101\/gad.1558107","article-title":"A post-transcriptional regulatory switch in polypyrimidine tract-binding proteins reprograms alternative splicing in developing neurons","volume":"21","author":"Boutz","year":"2007","journal-title":"Genes Dev."},{"key":"B25","doi-asserted-by":"publisher","first-page":"3578","DOI":"10.1007\/s12035-023-03747-4","article-title":"The roles of hnRNP family in the brain and brain-related disorders","volume":"61","author":"Brand\u00e3o-Teles","year":"2024","journal-title":"Mol. Neurobiol."},{"key":"B26","doi-asserted-by":"publisher","first-page":"1277","DOI":"10.1261\/rna.080066.124","article-title":"NMDtxDB: data-driven identification and annotation of human NMD target transcripts","volume":"30","author":"Britto-Borges","year":"2024","journal-title":"RNA"},{"key":"B27","doi-asserted-by":"publisher","first-page":"2861","DOI":"10.1093\/hmg\/ddv046","article-title":"Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity","volume":"24","author":"Brookes","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"B28","doi-asserted-by":"publisher","first-page":"5934","DOI":"10.1093\/nar\/gkac421","article-title":"Structures of nonsense-mediated mRNA decay factors UPF3B and UPF3A in complex with UPF2 reveal molecular basis for competitive binding and for neurodevelopmental disorder-causing mutation","volume":"50","author":"Bufton","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"B29","doi-asserted-by":"publisher","first-page":"2455","DOI":"10.1038\/s41436-021-01291-x","article-title":"Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy","volume":"23","author":"Calame","year":"2021","journal-title":"Genet. Med."},{"key":"B30","doi-asserted-by":"publisher","first-page":"7586","DOI":"10.3390\/ijms26157586","article-title":"ZNF496 as candidate gene for neurodevelopmental disorders: identification of a pathogenic de novo frameshift variant","volume":"26","author":"Cal\u00ec","year":"2025","journal-title":"Int. J. Mol. Sci."},{"key":"B31","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1038\/s41467-018-08255-x","article-title":"BAP1 complex promotes transcription by opposing PRC1-Mediated H2A ubiquitylation","volume":"10","author":"Campagne","year":"2019","journal-title":"Nat. Commun."},{"key":"B32","doi-asserted-by":"publisher","first-page":"625","DOI":"10.5483\/BMBRep.2023-0190","article-title":"Nonsense-mediated mRNA decay, a simplified view of a complex mechanism","volume":"56","author":"Carrard","year":"2023","journal-title":"BMB Rep."},{"key":"B33","doi-asserted-by":"publisher","first-page":"1799","DOI":"10.1002\/ajmg.a.70150","article-title":"Expanding the audiological phenotype associated with activity\u2010dependent neuroprotective protein (ADNP) syndrome: a case report and literature review suggesting a genotype\/phenotype correlation","volume":"200","author":"Carratu","year":"2026","journal-title":"Am. J. Med. Genet. Part A"},{"key":"B34","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1016\/j.gde.2020.05.030","article-title":"Poison exons in neurodevelopment and disease","volume":"65","author":"Carvill","year":"2020","journal-title":"Curr. Opin. Genet. Dev."},{"key":"B35","doi-asserted-by":"publisher","first-page":"1298","DOI":"10.1261\/rna.079170.122","article-title":"Expansion and functional analysis of the SR-related protein family across the domains of life","volume":"28","author":"Cascarina","year":"2022","journal-title":"RNA"},{"key":"B36","doi-asserted-by":"publisher","first-page":"16692","DOI":"10.1038\/s41598-017-16942-w","article-title":"Conservation of nonsense-mediated mRNA decay complex components throughout eukaryotic evolution","volume":"7","author":"Causier","year":"2017","journal-title":"Sci. Rep."},{"key":"B38","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1038\/nsmb1330","article-title":"NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity","volume":"15","author":"Chamieh","year":"2008","journal-title":"Nat. Struct. Mol. Biol."},{"key":"B39","doi-asserted-by":"publisher","first-page":"9282","DOI":"10.1093\/nar\/gkz633","article-title":"A low-complexity region in human XRN1 directly recruits deadenylation and decapping factors in 5\u2032\u20133\u2032 messenger RNA decay","volume":"47","author":"Chang","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"B40","doi-asserted-by":"publisher","first-page":"5903","DOI":"10.1073\/pnas.1218732110","article-title":"EJC core component MLN51 interacts with eIF3 and activates translation","volume":"110","author":"Chazal","year":"2013","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B41","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1038\/nrm2777","article-title":"Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches","volume":"10","author":"Chen","year":"2009","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"B42","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1016\/j.neuron.2008.02.016","article-title":"Alternative splicing of the Robo3 axon guidance receptor governs the midline switch from attraction to repulsion","volume":"58","author":"Chen","year":"2008","journal-title":"Neuron"},{"key":"B43","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.3390\/biom14081023","article-title":"RNA surveillance factor SMG5 is essential for mouse embryonic stem cell differentiation","volume":"14","author":"Chen","year":"2024","journal-title":"Biomolecules"},{"key":"B44","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1186\/s13229-026-00713-4","article-title":"ADNP missense variant p.C687R disrupts chromatin regulation and GABAergic differentiation in helsmoortel\u2013Van Der Aa syndrome","volume":"17","author":"Chen","year":"2026","journal-title":"Mol. Autism"},{"key":"B45","doi-asserted-by":"publisher","first-page":"985","DOI":"10.1016\/j.ajhg.2018.03.004","article-title":"Truncating variants in NAA15 are associated with variable levels of intellectual disability, autism spectrum disorder, and congenital anomalies","volume":"102","author":"Cheng","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"B46","doi-asserted-by":"publisher","first-page":"9334","DOI":"10.1093\/nar\/gku610","article-title":"The mRNP remodeling mediated by UPF1 promotes rapid degradation of replication-dependent histone mRNA","volume":"42","author":"Choe","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"B47","doi-asserted-by":"publisher","first-page":"e1398","DOI":"10.1002\/wrna.1398","article-title":"Developmental regulation of RNA processing by rbfox proteins","volume":"8","author":"Conboy","year":"2017","journal-title":"WIREs RNA"},{"key":"B48","doi-asserted-by":"publisher","first-page":"1774","DOI":"10.1016\/j.gim.2022.04.011","article-title":"Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder","volume":"24","author":"Cuinat","year":"2022","journal-title":"Genet. Med."},{"key":"B49","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1038\/s44318-024-00344-6","article-title":"An ultra-conserved poison exon in the Tra2b gene encoding a splicing activator is essential for Male fertility and meiotic cell division","volume":"44","author":"Dalgliesh","year":"","journal-title":"EMBO J."},{"key":"B50","doi-asserted-by":"publisher","first-page":"e70081","DOI":"10.1002\/bies.70081","article-title":"Ultra\u2010conserved poison exons enable rapid and safe splicing factor gene expression switches: a hypothesis","volume":"47","author":"Dalgliesh","year":"","journal-title":"BioEssays"},{"key":"B51","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1261\/rna.1838210","article-title":"Autoregulation of fox protein expression to produce dominant negative splicing factors","volume":"16","author":"Damianov","year":"2010","journal-title":"RNA"},{"key":"B52","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1016\/j.cell.2016.03.040","article-title":"Rbfox proteins regulate splicing as part of a large multiprotein complex LASR","volume":"165","author":"Damianov","year":"2016","journal-title":"Cell"},{"key":"B53","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1007\/s12033-024-01062-4","article-title":"Messenger RNA surveillance: current understanding, regulatory mechanisms, and future implications","volume":"67","author":"Das","year":"2025","journal-title":"Mol. Biotechnol."},{"key":"B54","doi-asserted-by":"publisher","first-page":"2628","DOI":"10.1038\/s41467-023-38273-3","article-title":"Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching","volume":"14","author":"Dawicki-McKenna","year":"2023","journal-title":"Nat. Commun."},{"key":"B55","doi-asserted-by":"publisher","first-page":"3208","DOI":"10.1093\/nar\/gkz028","article-title":"Structural and functional analysis of the nucleotide and DNA binding activities of the human PIF1 helicase","volume":"47","author":"Dehghani-Tafti","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"B56","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1016\/j.biochi.2020.10.011","article-title":"Functional roles of human Up-Frameshift suppressor 3 (UPF3) proteins: from nonsense-mediated mRNA decay to neurodevelopmental disorders","volume":"180","author":"Deka","year":"2021","journal-title":"Biochimie"},{"key":"B57","doi-asserted-by":"publisher","first-page":"a005959","DOI":"10.1101\/cshperspect.a005959","article-title":"Signaling networks that regulate cell migration","volume":"7","author":"Devreotes","year":"2015","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"B58","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.gene.2015.04.085","article-title":"The biological functions of Naa10 \u2014 from amino-terminal acetylation to human disease","volume":"567","author":"D\u00f6rfel","year":"2015","journal-title":"Gene"},{"key":"B59","doi-asserted-by":"publisher","first-page":"e21585","DOI":"10.1371\/journal.pone.0021585","article-title":"NeuN\/Rbfox3 nuclear and cytoplasmic isoforms differentially regulate alternative splicing and nonsense-mediated decay of Rbfox2","volume":"6","author":"Dredge","year":"2011","journal-title":"PLoS ONE"},{"key":"B60","doi-asserted-by":"publisher","first-page":"14710","DOI":"10.1038\/s41598-024-65608-x","article-title":"Tracing the Invisible Mutant ADNP Protein in Helsmoortel-Van Der Aa syndrome patients","volume":"14","author":"D\u2019Incal","year":"2024","journal-title":"Sci. Rep."},{"key":"B61","doi-asserted-by":"publisher","first-page":"e1838","DOI":"10.1002\/wrna.1838","article-title":"The spectrum of pre\u2010mRNA splicing in autism","volume":"15","author":"Engal","year":"2024","journal-title":"WIREs RNA"},{"key":"B62","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1111\/tra.12730","article-title":"Mechanisms and consequences of subcellular RNA localization across diverse cell types","volume":"21","author":"Engel","year":"2020","journal-title":"Traffic"},{"key":"B63","doi-asserted-by":"publisher","first-page":"1851","DOI":"10.1038\/s41588-024-01872-x","article-title":"Global impact of unproductive splicing on human gene expression","volume":"56","author":"Fair","year":"2024","journal-title":"Nat. Genet."},{"key":"B64","doi-asserted-by":"publisher","first-page":"4481","DOI":"10.1523\/JNEUROSCI.4944-13.2014","article-title":"Selective localization of Arc mRNA in dendrites involves Activity- and translation-dependent mRNA degradation","volume":"34","author":"Farris","year":"2014","journal-title":"J. Neurosci."},{"key":"B65","doi-asserted-by":"publisher","first-page":"4118","DOI":"10.1073\/pnas.0400933101","article-title":"A nuclear translation-like factor eIF4AIII is recruited to the mRNA during splicing and functions in nonsense-mediated decay","volume":"101","author":"Ferraiuolo","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B66","doi-asserted-by":"publisher","first-page":"e1728","DOI":"10.1002\/wrna.1728","article-title":"RNA splicing regulators play critical roles in neurogenesis","volume":"13","author":"Fisher","year":"2022","journal-title":"WIREs RNA"},{"key":"B67","doi-asserted-by":"publisher","DOI":"10.1101\/2025.10.02.680092","article-title":"Abnormal expression of splicing regulators RBFOX and NOVA is associated with aberrant splicing patterns at the Neurexin-3 gene in a monogenic autism spectrum disorder","author":"Forti","year":"2025"},{"key":"B68","doi-asserted-by":"publisher","first-page":"9424","DOI":"10.3390\/ijms21249424","article-title":"Perspective in alternative splicing coupled to nonsense-mediated mRNA decay","volume":"21","author":"Garc\u00eda-Moreno","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"B69","doi-asserted-by":"publisher","first-page":"4","DOI":"10.3389\/fnsyn.2010.00004","article-title":"Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models","volume":"2","author":"Broadie","year":"2010","journal-title":"Front. Synaptic Neurosci."},{"key":"B70","doi-asserted-by":"publisher","first-page":"1276325","DOI":"10.3389\/fnana.2023.1276325","article-title":"Molecular mechanisms of corpus callosum development: a four-step journey","volume":"17","author":"Gavrish","year":"2024","journal-title":"Front. Neuroanat."},{"key":"B71","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1038\/ng.841","article-title":"The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain","volume":"43","author":"Gehman","year":"2011","journal-title":"Nat. Genet."},{"key":"B72","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1101\/gad.182477.111","article-title":"The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function","volume":"26","author":"Gehman","year":"2012","journal-title":"Genes Dev."},{"key":"B73","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.molcel.2005.08.012","article-title":"Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements","volume":"20","author":"Gehring","year":"2005","journal-title":"Mol. Cell"},{"key":"B74","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1016\/j.cell.2007.05.028","article-title":"The EJC factor eIF4AIII modulates synaptic strength and neuronal protein expression","volume":"130","author":"Giorgi","year":"2007","journal-title":"Cell"},{"key":"B75","doi-asserted-by":"publisher","first-page":"73","DOI":"10.29399\/npa.29064","article-title":"Investigation of Genetic Aetiology in Intellectual Developmental Disorder with Trio-Whole Exome Sequencing Approach","volume":"63","author":"G\u00f6rker","year":"2025","journal-title":"Noro Psikiyatr. Ars."},{"key":"B76","doi-asserted-by":"publisher","first-page":"1390","DOI":"10.1080\/15476286.2020.1851506","article-title":"Nuclear SR-Protein mediated mRNA quality control is continued in cytoplasmic nonsense-mediated decay","volume":"18","author":"Grosse","year":"2021","journal-title":"RNA Biol."},{"key":"B77","doi-asserted-by":"publisher","first-page":"2088","DOI":"10.1002\/acn3.52129","article-title":"Horizontal gaze palsy with progressive scoliosis: further expanding the ROBO3 spectrum","volume":"11","author":"G\u00fcnbey","year":"2024","journal-title":"Ann. Clin. Transl. Neurology"},{"key":"B78","doi-asserted-by":"publisher","first-page":"1038","DOI":"10.1093\/nar\/gkx1272","article-title":"Nonsense-mediated mRNA decay: a \u201cnonsense\u201d pathway makes sense in stem cell biology","volume":"46","author":"Han","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"B79","doi-asserted-by":"publisher","first-page":"eaaz6100","DOI":"10.1126\/scitranslmed.aaz6100","article-title":"Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome","volume":"12","author":"Han","year":"2020","journal-title":"Sci. Transl. Med."},{"key":"B80","doi-asserted-by":"publisher","first-page":"574382","DOI":"10.3389\/fcell.2020.574382","article-title":"Non-cell-autonomous mechanisms in radial projection neuron migration in the developing cerebral cortex","volume":"8","author":"Hansen","year":"2020","journal-title":"Front. Cell Dev. Biol."},{"key":"B81","doi-asserted-by":"publisher","first-page":"1704","DOI":"10.1002\/mds.70297","article-title":"Neurodevelopmental disorder with dystonia and chorea linked to de novo variants in the splicing regulator SRRM4","volume":"41","author":"Harrer","year":"2026","journal-title":"Mov. Disord."},{"key":"B82","doi-asserted-by":"publisher","DOI":"10.64898\/2026.01.13.698659","article-title":"CASK hypomorph mice display cone photoreceptor dysfunction","author":"Hashemi","year":"2026"},{"key":"B83","doi-asserted-by":"publisher","first-page":"1283","DOI":"10.3390\/cells14161283","article-title":"Nonsense-mediated mRNA decay: mechanisms and recent implications in cardiovascular diseases","volume":"14","author":"Hassan","year":"2025","journal-title":"Cells"},{"key":"B84","doi-asserted-by":"publisher","first-page":"1","DOI":"10.2183\/pjab.92.1","article-title":"From migration to settlement: the pathways, migration modes and dynamics of neurons in the developing brain","volume":"92","author":"Hatanaka","year":"2016","journal-title":"Proc. Jpn. Acad. Ser. B"},{"key":"B85","doi-asserted-by":"publisher","first-page":"105622","DOI":"10.1016\/j.nbd.2022.105622","article-title":"Sodium channel expression and transcript variation in the developing brain of human, rhesus monkey, and mouse","volume":"164","author":"Heighway","year":"2022","journal-title":"Neurobiol. Dis."},{"key":"B86","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1016\/j.ajhg.2019.02.002","article-title":"Deleterious variation in BRSK2 associates with a neurodevelopmental disorder","volume":"104","author":"Hiatt","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"B87","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/978-94-007-7687-6_1","article-title":"Molecular pathways controlling the sequential steps of cortical projection neuron migration","volume":"800","author":"Hippenmeyer","year":"2014","journal-title":"Adv. Exp. Med. Biol."},{"key":"B88","doi-asserted-by":"publisher","first-page":"6860","DOI":"10.1093\/emboj\/19.24.6860","article-title":"The spliceosome deposits multiple proteins 20\u201324 nucleotides upstream of mRNA exon\u2013exon junctions","volume":"19","author":"Hir","year":"2000","journal-title":"EMBO J."},{"key":"B89","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1038\/nrm.2015.7","article-title":"The exon junction complex as a node of post-transcriptional networks","volume":"17","author":"Hir","year":"2016","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"B90","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1038\/sj.embor.7400721","article-title":"Internal ribosome entry sequence\u2010mediated translation initiation triggers nonsense\u2010mediated decay","volume":"7","author":"Holbrook","year":"2006","journal-title":"EMBO Rep."},{"key":"B91","doi-asserted-by":"publisher","first-page":"879","DOI":"10.1016\/j.tins.2023.07.001","article-title":"Nonsense-mediated mRNA decay in neuronal physiology and neurodegeneration","volume":"46","author":"Howe","year":"2023","journal-title":"Trends Neurosci."},{"key":"B92","doi-asserted-by":"publisher","first-page":"e90774","DOI":"10.1371\/journal.pone.0090774","article-title":"Microarray meta-analysis of RNA-binding protein functions in alternative polyadenylation","volume":"9","author":"Hu","year":"2014","journal-title":"PLoS ONE"},{"key":"B93","doi-asserted-by":"publisher","first-page":"e197271","DOI":"10.1172\/JCI197271","article-title":"Alternative splicing-triggered mRNA decay informs splice-switching targets for neurodevelopmental disorders","volume":"136","author":"Hu","year":"2026","journal-title":"J. Clin. Invest."},{"key":"B94","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/j.cell.2005.07.033","article-title":"Common molecular pathways mediate long-term potentiation of synaptic excitation and slow synaptic inhibition","volume":"123","author":"Huang","year":"2005","journal-title":"Cell"},{"key":"B95","doi-asserted-by":"publisher","first-page":"1773","DOI":"10.1038\/mp.2017.173","article-title":"A Upf3b-mutant mouse model with behavioral and neurogenesis defects","volume":"23","author":"Huang","year":"2018","journal-title":"Mol. Psychiatry"},{"key":"B96","doi-asserted-by":"publisher","first-page":"115119","DOI":"10.1016\/j.expneurol.2024.115119","article-title":"Disruption of RNA-binding proteins in neurological disorders","volume":"385","author":"Huang","year":"2025","journal-title":"Exp. Neurol."},{"key":"B97","doi-asserted-by":"publisher","first-page":"1845","DOI":"10.1016\/j.celrep.2014.08.020","article-title":"The RNA helicase DHX34 activates NMD by promoting a transition from the surveillance to the decay-inducing complex","volume":"8","author":"Hug","year":"2014","journal-title":"Cell Rep."},{"key":"B98","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1016\/j.gde.2011.03.008","article-title":"Nonsense-Mediated mRNA decay (NMD) in animal embryogenesis: to die or not to die, that is the question","volume":"21","author":"Hwang","year":"2011","journal-title":"Curr. Opin. Genet. Dev."},{"key":"B99","doi-asserted-by":"publisher","first-page":"1511","DOI":"10.1016\/j.cell.2014.11.035","article-title":"A highly conserved program of neuronal microexons is misregulated in autistic brains","volume":"159","author":"Irimia","year":"2014","journal-title":"Cell"},{"key":"B100","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1016\/S0092-8674(01)00475-5","article-title":"Evidence for a pioneer round of mRNA translation","volume":"106","author":"Ishigaki","year":"2001","journal-title":"Cell"},{"key":"B101","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1177\/1535370213494646","article-title":"Depletion of RNA-binding protein RBM8A (Y14) causes cell cycle deficiency and apoptosis in human cells","volume":"238","author":"Ishigaki","year":"2013","journal-title":"Exp. Biol. Med."},{"key":"B102","doi-asserted-by":"publisher","first-page":"853","DOI":"10.1016\/j.neuron.2018.01.020","article-title":"Rbfox splicing factors promote neuronal maturation and axon initial segment assembly","volume":"97","author":"Jacko","year":"2018","journal-title":"Neuron"},{"key":"B103","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1038\/s41583-018-0079-z","article-title":"Nonsense-mediated RNA decay in the brain: emerging modulator of neural development and disease","volume":"19","author":"Jaffrey","year":"2018","journal-title":"Nat. Rev. Neurosci."},{"key":"B104","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.bbagrm.2013.11.006","article-title":"Exon 9 skipping of apoptotic Caspase-2 Pre-mRNA is promoted by SRSF3 through interaction with Exon 8","volume":"1839","author":"Jang","year":"2014","journal-title":"Biochimica Biophysica Acta (BBA) - Gene Regul. Mech."},{"key":"B105","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1016\/j.cell.2014.09.054","article-title":"Building robust transcriptomes with master splicing factors","volume":"159","author":"Jangi","year":"2014","journal-title":"Cell"},{"key":"B106","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1016\/j.neuroscience.2010.05.013","article-title":"Cholinergic regulation of striatal Nova mRNAs","volume":"169","author":"Jelen","year":"2010","journal-title":"Neuroscience"},{"key":"B107","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1086\/427563","article-title":"Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-Linked mental retardation","volume":"76","author":"Jensen","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"B108","doi-asserted-by":"publisher","first-page":"100237","DOI":"10.1016\/j.mocell.2025.100237","article-title":"Dysregulated RNA-binding proteins and alternative splicing: emerging roles in autism spectrum disorder","volume":"48","author":"Jeong","year":"2025","journal-title":"Mol. Cells"},{"key":"B109","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1016\/j.csbj.2020.12.009","article-title":"Alternative splicing: human disease and quantitative analysis from high-throughput sequencing","volume":"19","author":"Jiang","year":"2021","journal-title":"Comput. Struct. Biotechnol. J."},{"key":"B110","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.nbd.2015.07.007","article-title":"Cellular and molecular introduction to brain development","volume":"92","author":"Jiang","year":"2016","journal-title":"Neurobiol. Dis."},{"key":"B111","doi-asserted-by":"publisher","first-page":"1633","DOI":"10.3390\/cells12121633","article-title":"HnRNP pathologies in frontotemporal lobar degeneration","volume":"12","author":"Jiang","year":"2023","journal-title":"Cells"},{"key":"B112","doi-asserted-by":"publisher","first-page":"10147","DOI":"10.3390\/ijms231710147","article-title":"Regulatory network of Serine\/Arginine-Rich (SR) proteins: the molecular mechanism and physiological function in plants","volume":"23","author":"Jin","year":"2022","journal-title":"Int. J. Mol. Sci."},{"key":"B113","doi-asserted-by":"publisher","first-page":"1046","DOI":"10.1038\/s41588-020-0695-1","article-title":"Mutations disrupting neuritogenesis genes confer risk for cerebral Palsy","volume":"52","author":"Jin","year":"2020","journal-title":"Nat. Genet."},{"key":"B114","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1016\/j.neuron.2019.08.027","article-title":"Inhibition of Upf2-dependent nonsense-mediated decay leads to behavioral and neurophysiological abnormalities by activating the immune response","volume":"104","author":"Johnson","year":"2019","journal-title":"Neuron"},{"key":"B115","doi-asserted-by":"publisher","first-page":"4673","DOI":"10.1093\/hmg\/ddt315","article-title":"The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth","volume":"22","author":"Jolly","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"B116","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1016\/j.cell.2014.03.005","article-title":"Remote control of gene function by local translation","volume":"157","author":"Jung","year":"2014","journal-title":"Cell"},{"key":"B117","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1016\/j.neuron.2022.12.015","article-title":"mRNA transport, translation, and decay in adult Mammalian central nervous System axons","volume":"111","author":"Jung","year":"2023","journal-title":"Neuron"},{"key":"B118","doi-asserted-by":"publisher","first-page":"60","DOI":"10.3389\/fgene.2012.00060","article-title":"Dark matter RNA: existence, function, and controversy","volume":"3","author":"Kapranov","year":"2012","journal-title":"Front. Genet."},{"key":"B119","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1101\/gad.1389006","article-title":"Binding of a novel SMG-1\u2013Upf1\u2013eRF1\u2013eRF3 complex (SURF) to the Exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay","volume":"20","author":"Kashima","year":"2006","journal-title":"Genes Dev."},{"key":"B120","doi-asserted-by":"publisher","first-page":"6424","DOI":"10.1093\/emboj\/20.22.6424","article-title":"Magoh, a human homolog of Drosophila Mago Nashi protein, is a component of the splicing\u2010dependent exon\u2013exon junction complex","volume":"20","author":"Kataoka","year":"2001","journal-title":"EMBO J."},{"key":"B121","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.canlet.2017.03.013","article-title":"Splicing factors of SR and hnRNP families as regulators of apoptosis in cancer","volume":"396","author":"K\u0119dzierska","year":"2017","journal-title":"Cancer Lett."},{"key":"B122","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1261\/rna.063420.117","article-title":"Auto- and cross-regulation of the hnRNPs D and DL","volume":"24","author":"Kemmerer","year":"2018","journal-title":"RNA"},{"key":"B123","doi-asserted-by":"publisher","first-page":"360","DOI":"10.3109\/10409238.2012.691456","article-title":"Neuronal regulation of Pre-mRNA splicing by Polypyrimidine tract binding proteins, PTBP1 and PTBP2","volume":"47","author":"Keppetipola","year":"2012","journal-title":"Crit. Rev. Biochem. Mol. Biol."},{"key":"B124","doi-asserted-by":"publisher","first-page":"1560","DOI":"10.1016\/j.biochi.2011.12.021","article-title":"Testing the Faux-UTR model for NMD: analysis of Upf1p and Pab1p competition for binding to eRF3\/Sup35p","volume":"94","author":"Kervestin","year":"2012","journal-title":"Biochimie"},{"key":"B125","doi-asserted-by":"publisher","first-page":"2062","DOI":"10.1093\/emboj\/20.8.2062","article-title":"The Y14 protein communicates to the cytoplasm the position of exon\u2013exon junctions","volume":"20","author":"Kim","year":"2001","journal-title":"EMBO J."},{"key":"B126","doi-asserted-by":"publisher","first-page":"6849","DOI":"10.1093\/nar\/gkab523","article-title":"NOVA2 regulates neural circRNA biogenesis","volume":"49","author":"Knupp","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"B127","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1016\/j.ajhg.2015.11.024","article-title":"Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules","volume":"98","author":"Kochinke","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"B128","doi-asserted-by":"publisher","first-page":"e34","DOI":"10.1093\/nar\/gkae121","article-title":"A system of reporters for comparative investigation of EJC-independent and EJC-enhanced nonsense-mediated mRNA decay","volume":"52","author":"Kolakada","year":"2024","journal-title":"Nucleic Acids Res."},{"key":"B129","doi-asserted-by":"publisher","first-page":"e10169","DOI":"10.1371\/journal.pone.0010169","article-title":"Molecular basis of eRF3 recognition by the MLLE domain of Poly(A)-Binding protein","volume":"5","author":"Kozlov","year":"2010","journal-title":"PLoS ONE"},{"key":"B130","doi-asserted-by":"publisher","first-page":"gkag193","DOI":"10.1093\/nar\/gkag193","article-title":"SMG1:SMG8:SMG9-complex integrity supports efficient execution of nonsense-mediated mRNA decay","volume":"54","author":"Kueckelmann","year":"2026","journal-title":"Nucleic Acids Res."},{"key":"B131","doi-asserted-by":"publisher","first-page":"1265","DOI":"10.1038\/embor.2009.200","article-title":"Upf1 stimulates degradation of the product derived from aberrant messenger RNA containing a specific nonsense mutation by the proteasome","volume":"10","author":"Kuroha","year":"2009","journal-title":"EMBO Rep."},{"key":"B132","doi-asserted-by":"publisher","first-page":"1900","DOI":"10.1101\/gad.245506.114","article-title":"A post-translational regulatory switch on UPF1 controls targeted mRNA degradation","volume":"28","author":"Kurosaki","year":"2014","journal-title":"Genes Dev."},{"key":"B133","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1038\/s41580-019-0126-2","article-title":"Quality and quantity control of gene expression by nonsense-mediated mRNA decay","volume":"20","author":"Kurosaki","year":"2019","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"B134","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1038\/s42003-024-06356-6","article-title":"Effect of nonsense-mediated mRNA decay factor SMG9 deficiency on premature aging in zebrafish","volume":"7","author":"Lai","year":"2024","journal-title":"Commun. Biol."},{"key":"B135","doi-asserted-by":"publisher","first-page":"102979","DOI":"10.1016\/j.sbi.2024.102979","article-title":"Toward a comprehensive profiling of alternative splicing proteoform structures, interactions and functions","volume":"90","author":"Laine","year":"2025","journal-title":"Curr. Opin. Struct. Biol."},{"key":"B136","doi-asserted-by":"publisher","first-page":"e73323","DOI":"10.1371\/journal.pone.0073323","article-title":"RBFOX1 and RBFOX3 mutations in rolandic epilepsy","volume":"8","author":"Lal","year":"2013","journal-title":"PLoS ONE"},{"key":"B137","doi-asserted-by":"publisher","first-page":"887","DOI":"10.1016\/j.molcel.2014.04.016","article-title":"RNA Bind-n-seq: quantitative assessment of the sequence and structural binding specificity of RNA binding proteins","volume":"54","author":"Lambert","year":"2014","journal-title":"Mol. Cell"},{"key":"B138","doi-asserted-by":"publisher","first-page":"926","DOI":"10.1038\/nature05676","article-title":"Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements","volume":"446","author":"Lareau","year":"2007","journal-title":"Nature"},{"key":"B139","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1038\/mp.2009.14","article-title":"Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism","volume":"15","author":"Laumonnier","year":"2010","journal-title":"Mol. Psychiatry"},{"key":"B140","doi-asserted-by":"publisher","first-page":"999","DOI":"10.3390\/biom10070999","article-title":"UPF1-Mediated RNA Decay\u2014Danse macabre in a cloud","volume":"10","author":"Lavysh","year":"2020","journal-title":"Biomolecules"},{"key":"B141","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1038\/s41580-022-00527-1","article-title":"\u201cPoisoning\u201d of the transcriptome by ultraconserved elements","volume":"23","author":"Leclair","year":"2022","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"B142","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1016\/j.molcel.2020.10.019","article-title":"Poison exon splicing regulates a coordinated network of SR protein expression during differentiation and tumorigenesis","volume":"80","author":"Leclair","year":"2020","journal-title":"Mol. Cell"},{"key":"B143","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1146\/annurev-biochem-060614-034316","article-title":"Mechanisms and regulation of alternative Pre-mRNA splicing","volume":"84","author":"Lee","year":"2015","journal-title":"Annu. Rev. Biochem."},{"key":"B144","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.neuron.2015.11.025","article-title":"Cytoplasmic Rbfox1 regulates the expression of synaptic and autism-related genes","volume":"89","author":"Lee","year":"2016","journal-title":"Neuron"},{"key":"B145","doi-asserted-by":"publisher","first-page":"175","DOI":"10.5483\/BMBRep.2017.50.4.015","article-title":"Nonsense-mediated mRNA decay at the crossroads of many cellular pathways","volume":"50","author":"Lejeune","year":"2017","journal-title":"BMB Rep."},{"key":"B146","doi-asserted-by":"publisher","first-page":"141","DOI":"10.3390\/biomedicines10010141","article-title":"Nonsense-mediated mRNA decay, a finely regulated mechanism","volume":"10","author":"Lejeune","year":"2022","journal-title":"Biomedicines"},{"key":"B147","doi-asserted-by":"publisher","first-page":"e290","DOI":"10.1002\/wdev.290","article-title":"RNA on the brain: emerging layers of post\u2010transcriptional regulation in cerebral cortex development","volume":"7","author":"Lennox","year":"2018","journal-title":"Wiley Interdiscip. Rev. Dev. Biol."},{"key":"B148","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1073\/pnas.0136770100","article-title":"Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans","volume":"100","author":"Lewis","year":"2003","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B149","doi-asserted-by":"publisher","first-page":"e01201","DOI":"10.7554\/eLife.01201","article-title":"The splicing regulator PTBP2 controls a program of embryonic splicing required for neuronal maturation","volume":"3","author":"Li","year":"2014","journal-title":"eLife"},{"key":"B150","doi-asserted-by":"publisher","first-page":"116819","DOI":"10.1016\/j.jns.2020.116819","article-title":"Coffin-Siris syndrome-1: report of five cases from Asian populations with truncating mutations in the ARID1B gene","volume":"414","author":"Lian","year":"2020","journal-title":"J. Neurological Sci."},{"key":"B151","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1186\/s13073-021-00949-0","article-title":"Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain","volume":"13","author":"Liang","year":"2021","journal-title":"Genome Med."},{"key":"B152","doi-asserted-by":"publisher","first-page":"1626","DOI":"10.1101\/gad.191338.112","article-title":"Ptbp2 represses adult-specific splicing to regulate the generation of neuronal precursors in the embryonic brain","volume":"26","author":"Licatalosi","year":"2012","journal-title":"Genes Dev."},{"key":"B153","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1101\/gr.242636.118","article-title":"A high resolution A-to-I editing map in the mouse identifies editing events controlled by Pre-mRNA splicing","volume":"29","author":"Licht","year":"2019","journal-title":"Genome Res."},{"key":"B154","doi-asserted-by":"publisher","first-page":"1180","DOI":"10.1016\/j.neuron.2020.06.036","article-title":"Developmental attenuation of neuronal apoptosis by neural-specific splicing of Bak1 microexon","volume":"107","author":"Lin","year":"2020","journal-title":"Neuron"},{"key":"B155","doi-asserted-by":"publisher","first-page":"EMBJ2022113168","DOI":"10.15252\/embj.2022113168","article-title":"HNRNPH1 regulates the neuroprotective cold\u2010shock protein RBM3 expression through poison exon exclusion","volume":"42","author":"Lin","year":"2023","journal-title":"EMBO J."},{"key":"B156","doi-asserted-by":"publisher","first-page":"2157","DOI":"10.1016\/j.neuron.2024.04.006","article-title":"Epistatic interactions between NMD and TRP53 control progenitor cell maintenance and brain size","volume":"112","author":"Lin","year":"2024","journal-title":"Neuron"},{"key":"B157","doi-asserted-by":"publisher","first-page":"757","DOI":"10.1186\/s40001-025-03024-1","article-title":"WDR26-related Skraban\u2013Deardorff syndrome: clinical, genetic and pathomechanistic insights","volume":"30","author":"Lin","year":"2025","journal-title":"Eur. J. Med. Res."},{"key":"B158","doi-asserted-by":"publisher","first-page":"117027","DOI":"10.1016\/j.celrep.2026.117027","article-title":"Nonsense-mediated mRNA decay orchestrates neuronal migration and cortical lamination while modulating reelin and ciliary gene regulatory networks","volume":"45","author":"Lin","year":"2026","journal-title":"Cell Rep."},{"key":"B159","doi-asserted-by":"publisher","first-page":"e09268","DOI":"10.7554\/eLife.09268","article-title":"The splicing regulator PTBP1 controls the activity of the transcription factor Pbx1 during neuronal differentiation","volume":"4","author":"Linares","year":"2015","journal-title":"eLife"},{"key":"B160","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1016\/j.celrep.2016.08.071","article-title":"PTBP1 and PTBP2 repress nonconserved cryptic exons","volume":"17","author":"Ling","year":"2016","journal-title":"Cell Rep."},{"key":"B161","doi-asserted-by":"publisher","first-page":"11075","DOI":"10.3390\/ijms262211075","article-title":"The role of mRNA alternative processing in Mammalian neurodevelopment","volume":"26","author":"Liu","year":"2025","journal-title":"Int. J. Mol. Sci."},{"key":"B162","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1042\/BJ20081501","article-title":"The SR protein family of splicing factors: master regulators of gene expression","volume":"417","author":"Long","year":"2009","journal-title":"Biochem. J."},{"key":"B163","doi-asserted-by":"publisher","first-page":"1909","DOI":"10.1093\/nar\/gkv1527","article-title":"Human nonsense-mediated mRNA decay factor UPF2 interacts directly with eRF3 and the SURF complex","volume":"44","author":"L\u00f3pez-Perrote","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"B164","doi-asserted-by":"publisher","first-page":"748","DOI":"10.1016\/j.celrep.2014.01.028","article-title":"Posttranscriptional control of the stem cell and neurogenic programs by the nonsense-mediated RNA decay pathway","volume":"6","author":"Lou","year":"2014","journal-title":"Cell Rep."},{"key":"B165","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1007\/s12035-020-02137-4","article-title":"Heterogeneous nuclear ribonucleoproteins: implications in neurological diseases","volume":"58","author":"Low","year":"2021","journal-title":"Mol. Neurobiol."},{"key":"B166","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1186\/s12920-021-01119-2","article-title":"Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin\u2013Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing","volume":"14","author":"Lu","year":"2021","journal-title":"BMC Med. Genomics"},{"key":"B167","doi-asserted-by":"publisher","first-page":"dev201619","DOI":"10.1242\/dev.201619","article-title":"The exon junction complex component EIF4A3 is essential for mouse and human cortical progenitor mitosis and neurogenesis","volume":"150","author":"Lupan","year":"2023","journal-title":"Development"},{"key":"B168","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1016\/0896-6273(95)90299-6","article-title":"Arc, a growth factor and activity-regulated gene, encodes a novel cytoskeleton-associated protein that is enriched in neuronal dendrites","volume":"14","author":"Lyford","year":"1995","journal-title":"Neuron"},{"key":"B169","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1038\/nrm4063","article-title":"Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes","volume":"16","author":"Lykke-Andersen","year":"2015","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"B170","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1042\/BCJ20210556","article-title":"No-nonsense: insights into the functional interplay of nonsense-mediated mRNA decay factors","volume":"479","author":"Mailliot","year":"2022","journal-title":"Biochem. J."},{"key":"B171","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1101\/gad.1934910","article-title":"A rational nomenclature for serine\/arginine-rich protein splicing factors (SR proteins): table 1","volume":"24","author":"Manley","year":"2010","journal-title":"Genes Dev."},{"key":"B172","doi-asserted-by":"publisher","first-page":"1074","DOI":"10.1186\/s12888-025-07510-y","article-title":"Anxiety disorder is a common psychopathological comorbidity in patients with SHANK pathogenic variants: description of five new cases","volume":"25","author":"Manso-Bazus","year":"2025","journal-title":"BMC Psychiatry"},{"key":"B173","doi-asserted-by":"publisher","first-page":"1089053","DOI":"10.3389\/fgene.2023.1089053","article-title":"Re-Evaluating the impact of alternative RNA splicing on proteomic diversity","volume":"14","author":"Manuel","year":"2023","journal-title":"Front. Genet."},{"key":"B174","doi-asserted-by":"publisher","first-page":"7003","DOI":"10.1523\/JNEUROSCI.0018-15.2015","article-title":"Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly","volume":"35","author":"Mao","year":"2015","journal-title":"J. Neurosci."},{"key":"B175","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1261\/rna.058826.116","article-title":"Mouse models of Casc3 reveal developmental functions distinct from other components of the Exon junction complex","volume":"23","author":"Mao","year":"2017","journal-title":"RNA"},{"key":"B176","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1016\/j.cell.2010.07.022","article-title":"The pioneer round of translation: features and functions","volume":"142","author":"Maquat","year":"2010","journal-title":"Cell"},{"key":"B177","doi-asserted-by":"publisher","first-page":"lqae163","DOI":"10.1093\/nargab\/lqae163","article-title":"Human introns contain conserved tissue-specific cryptic poison exons","volume":"6","author":"Margasyuk","year":"2024","journal-title":"NAR Genomics Bioinforma."},{"key":"B178","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1186\/s11689-025-09643-3","article-title":"The neurodevelopmental spectrum of CASK-related disorder","volume":"17","author":"Martin","year":"2025","journal-title":"J. Neurodev. Disord."},{"key":"B179","doi-asserted-by":"publisher","first-page":"e182100","DOI":"10.1172\/JCI182100","article-title":"PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia","volume":"135","author":"Masson","year":"2025","journal-title":"J. Clin. Invest."},{"key":"B203","doi-asserted-by":"publisher","first-page":"684","DOI":"10.1016\/j.tig.2025.11.003","article-title":"Beyond the gene: decoding alternative isoforms","volume":"42","author":"Mattioli","year":"2026","journal-title":"Trends Genet."},{"key":"B180","doi-asserted-by":"publisher","first-page":"100900","DOI":"10.1016\/j.gim.2023.100900","article-title":"Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder","volume":"25","author":"Mattioli","year":"2023","journal-title":"Genet. Med."},{"key":"B181","doi-asserted-by":"publisher","first-page":"1912","DOI":"10.1038\/s41436-021-01222-w","article-title":"Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders","volume":"23","author":"May","year":"2021","journal-title":"Genet. Med."},{"key":"B182","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1261\/rna.080334.124","article-title":"Exploring the therapeutic potential of modulating nonsense-mediated mRNA decay","volume":"31","author":"McMahon","year":"2025","journal-title":"RNA"},{"key":"B183","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1038\/s41398-020-01065-0","article-title":"Full function of exon junction complex factor, Rbm8a, is critical for interneuron development","volume":"10","author":"McSweeney","year":"2020","journal-title":"Transl. Psychiatry"},{"key":"B184","doi-asserted-by":"publisher","first-page":"1685","DOI":"10.1056\/NEJMoa0805384","article-title":"Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes","volume":"359","author":"Mefford","year":"2008","journal-title":"N. Engl. J. Med."},{"key":"B185","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1038\/s41583-020-00418-4","article-title":"Sodium channelopathies in neurodevelopmental disorders","volume":"22","author":"Meisler","year":"2021","journal-title":"Nat. Rev. Neurosci."},{"key":"B186","doi-asserted-by":"publisher","first-page":"3941","DOI":"10.3390\/ijms21113941","article-title":"Alternative splicing by NOVA factors: from gene expression to cell physiology and pathology","volume":"21","author":"Meldolesi","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"B187","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1038\/ng1429","article-title":"Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise","volume":"36","author":"Mendell","year":"2004","journal-title":"Nat. Genet."},{"key":"B188","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1186\/s13052-025-01887-y","article-title":"A novel KDM5C mutation associated with intellectual disability: molecular mechanisms and clinical implications","volume":"51","author":"Meng","year":"2025","journal-title":"Italian J. Pediatr."},{"key":"B189","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1128\/MCB.01040-14","article-title":"A posttranscriptional mechanism that controls Ptbp1 abundance in the Xenopus epidermis","volume":"35","author":"M\u00e9reau","year":"2015","journal-title":"Mol. Cell. Biol."},{"key":"B190","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1016\/j.mrrev.2014.05.001","article-title":"Nonsense-Mediated decay in genetic disease: friend or foe?","volume":"762","author":"Miller","year":"2014","journal-title":"Mutat. Research\/Reviews Mutat. Res."},{"key":"B191","doi-asserted-by":"publisher","first-page":"2177","DOI":"10.1093\/hmg\/ddx078","article-title":"EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome","volume":"26","author":"Miller","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"B192","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1159\/000541070","article-title":"Clinical variability of shashi-pena syndrome: a novel ASXL2 variant associated with overgrowth and minor neurodevelopmental features","volume":"16","author":"Minotti","year":"2024","journal-title":"Mol. Syndromol."},{"key":"B193","doi-asserted-by":"publisher","first-page":"3055","DOI":"10.1093\/nar\/gkad161","article-title":"Tissue-specific regulation of gene expression via unproductive splicing","volume":"51","author":"Mironov","year":"2023","journal-title":"Nucleic Acids Res."},{"key":"B194","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1038\/s41380-021-01060-x","article-title":"Neurobiology of ARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders","volume":"27","author":"Moffat","year":"2022","journal-title":"Mol. Psychiatry"},{"key":"B195","doi-asserted-by":"publisher","first-page":"102394","DOI":"10.1016\/j.gde.2025.102394","article-title":"Genetic disruption of nonsense-mediated mRNA decay in neurodevelopmental disorders","volume":"94","author":"Montazaribarforoushi","year":"2025","journal-title":"Curr. Opin. Genet. Dev."},{"key":"B196","doi-asserted-by":"publisher","first-page":"1656","DOI":"10.3390\/genes14081656","article-title":"Diverse clinical phenotypes of CASK-related disorders and multiple functional domains of CASK protein","volume":"14","author":"Mori","year":"2023","journal-title":"Genes"},{"key":"B197","doi-asserted-by":"publisher","first-page":"1037","DOI":"10.1002\/humu.20763","article-title":"A meta-analysis of nonsense mutations causing human genetic disease","volume":"29","author":"Mort","year":"2008","journal-title":"Hum. Mutat."},{"key":"B198","doi-asserted-by":"publisher","first-page":"e92342","DOI":"10.7554\/eLife.92342.3","article-title":"Assembly of neuron- and radial glial-cell-derived extracellular matrix molecules promotes radial migration of developing cortical neurons","volume":"12","author":"Mubuchi","year":"2024","journal-title":"eLife"},{"key":"B199","doi-asserted-by":"publisher","first-page":"e1813","DOI":"10.1002\/wrna.1813","article-title":"To RNA \u2010binding and beyond: emerging facets of the role of rbfox proteins in development and disease","volume":"15","author":"Mukherjee","year":"2024","journal-title":"WIREs RNA"},{"key":"B200","doi-asserted-by":"publisher","first-page":"1121","DOI":"10.1042\/BST20221131","article-title":"The long and short of EJC-independent nonsense-mediated RNA decay","volume":"51","author":"Mu\u00f1oz","year":"2023","journal-title":"Biochem. Soc. Trans."},{"key":"B201","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1016\/S0968-0004(98)01208-0","article-title":"A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance","volume":"23","author":"Nagy","year":"1998","journal-title":"Trends Biochem. Sci."},{"key":"B202","doi-asserted-by":"publisher","first-page":"154","DOI":"10.3390\/genes13010154","article-title":"Genotype-phenotype comparison in POGZ-related neurodevelopmental disorders by using clinical scoring","volume":"13","author":"Nagy","year":"2022","journal-title":"Genes"},{"key":"B204","doi-asserted-by":"publisher","first-page":"S0168952526000387","DOI":"10.1016\/j.tig.2026.02.003","article-title":"When loss is gain: truncating mutations in additional sex combs (ASXL) gene family in cancer and neurodevelopment","volume":"42","author":"Nakamura","year":"2026","journal-title":"Trends Genet."},{"key":"B205","doi-asserted-by":"publisher","first-page":"104983","DOI":"10.1016\/j.ejmg.2024.104983","article-title":"De novo variants in UPF1 associated with intellectual disabilities: human genetic and functional evidences using drosophila model","volume":"72","author":"Nakato","year":"2024","journal-title":"Eur. J. Med. Genet."},{"key":"B206","doi-asserted-by":"publisher","first-page":"1365","DOI":"10.1083\/jcb.134.6.1365","article-title":"The hnRNP C proteins contain a nuclear retention sequence that can override nuclear export signals","volume":"134","author":"Nakielny","year":"1996","journal-title":"J. Cell Biol."},{"key":"B207","doi-asserted-by":"publisher","first-page":"1483901","DOI":"10.3389\/fnmol.2024.1483901","article-title":"Post-transcriptional regulation of the transcriptional apparatus in neuronal development","volume":"17","author":"Nazim","year":"2024","journal-title":"Front. Mol. Neurosci."},{"key":"B208","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1016\/j.tips.2025.01.002","article-title":"Poison exons: tuning RNA splicing for targeted gene regulation","volume":"46","author":"Neil","year":"2025","journal-title":"Trends Pharmacol. Sci."},{"key":"B209","doi-asserted-by":"publisher","first-page":"1103","DOI":"10.1038\/mp.2011.163","article-title":"Transcriptome profiling of UPF3B\/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability","volume":"17","author":"Nguyen","year":"2012","journal-title":"Mol. Psychiatry"},{"key":"B210","doi-asserted-by":"publisher","first-page":"e303","DOI":"10.1371\/journal.pone.0000303","article-title":"MLN51 stimulates the RNA-helicase activity of eIF4AIII","volume":"2","author":"Noble","year":"2007","journal-title":"PLoS ONE"},{"key":"B211","doi-asserted-by":"publisher","first-page":"100877","DOI":"10.1016\/j.xgen.2025.100877","article-title":"ESC models of autism with copy-number variations reveal cell-type-specific translational vulnerability","volume":"5","author":"Nomura","year":"2025","journal-title":"Cell Genomics"},{"key":"B213","doi-asserted-by":"publisher","first-page":"3360","DOI":"10.1038\/s41380-019-0547-5","article-title":"UPF2 leads to degradation of dendritically targeted mRNAs to regulate synaptic plasticity and cognitive function","volume":"25","author":"Notaras","year":"2020","journal-title":"Mol. Psychiatry"},{"key":"B214","doi-asserted-by":"publisher","first-page":"2054","DOI":"10.1126\/science.1114066","article-title":"Structure of PTB bound to RNA: specific binding and implications for splicing regulation","volume":"309","author":"Oberstrass","year":"2005","journal-title":"Science"},{"key":"B215","doi-asserted-by":"publisher","first-page":"825","DOI":"10.1007\/s10495-013-0824-8","article-title":"hnRNP A1 contacts exon 5 to promote exon 6 inclusion of apoptotic fas gene","volume":"18","author":"Oh","year":"2013","journal-title":"Apoptosis"},{"key":"B216","doi-asserted-by":"publisher","first-page":"1251","DOI":"10.1093\/nar\/gkr791","article-title":"N- and C-terminal Upf1 phosphorylations create binding platforms for SMG-6 and SMG-5:SMG-7 during NMD","volume":"40","author":"Okada-Katsuhata","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"B217","doi-asserted-by":"publisher","first-page":"111001","DOI":"10.1016\/j.ygeno.2025.111001","article-title":"WDR26 depletion alters chromatin accessibility and gene expression profiles in mammalian cells","volume":"117","author":"Onea","year":"2025","journal-title":"Genomics"},{"key":"B218","doi-asserted-by":"publisher","first-page":"1957","DOI":"10.1261\/rna.035311.112","article-title":"Biological role of the two overlapping Poly(A)-Binding protein interacting motifs 2 (PAM2) of eukaryotic releasing factor eRF3 in mRNA decay","volume":"18","author":"Osawa","year":"2012","journal-title":"RNA"},{"key":"B219","doi-asserted-by":"publisher","first-page":"1056","DOI":"10.1016\/j.tcb.2023.11.003","article-title":"Cutting through the stress: RNA decay pathways at the endoplasmic reticulum","volume":"34","author":"Ottens","year":"2024","journal-title":"Trends Cell Biol."},{"key":"B220","doi-asserted-by":"publisher","first-page":"4464","DOI":"10.1038\/s41380-022-01722-4","article-title":"Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traits","volume":"27","author":"O\u2019Leary","year":"2022","journal-title":"Mol. Psychiatry"},{"key":"B221","doi-asserted-by":"publisher","first-page":"6469","DOI":"10.1038\/s41467-021-26810-x","article-title":"Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders","volume":"12","author":"Pagliaroli","year":"2021","journal-title":"Nat. Commun."},{"key":"B222","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1186\/s12964-025-02503-6","article-title":"Nonsense-mediated mRNA decay: a key regulatory system engaged in cancer","volume":"23","author":"Pan","year":"2025","journal-title":"Cell Commun. Signal."},{"key":"B223","doi-asserted-by":"publisher","first-page":"1929","DOI":"10.4103\/1673-5374.390976","article-title":"Post-transcriptional mechanisms controlling neurogenesis and direct neuronal reprogramming","volume":"19","author":"Papadimitriou","year":"2024","journal-title":"Neural Regen. Res."},{"key":"B224","doi-asserted-by":"publisher","first-page":"2672","DOI":"10.1016\/j.celrep.2019.10.110","article-title":"Differential functions of splicing factors in mammary transformation and breast cancer metastasis","volume":"29","author":"Park","year":"2019","journal-title":"Cell Rep."},{"key":"B225","doi-asserted-by":"publisher","first-page":"113319","DOI":"10.1016\/j.expneurol.2020.113319","article-title":"Haploinsufficiency of X-Linked intellectual disability gene CASK induces post-transcriptional changes in synaptic and cellular metabolic pathways","volume":"329","author":"Patel","year":"2020","journal-title":"Exp. Neurol."},{"key":"B226","doi-asserted-by":"publisher","first-page":"101339","DOI":"10.1016\/j.neurad.2025.101339","article-title":"Neuroanatomical features of NAA10 and NAA15-Related neurodevelopmental syndromes","volume":"52","author":"Patel","year":"2025","journal-title":"J. Neuroradiol."},{"key":"B227","doi-asserted-by":"publisher","first-page":"155677","DOI":"10.1016\/j.prp.2024.155677","article-title":"Nonsense-mediated mRNA decay: physiological significance, mechanistic insights and future implications","volume":"264","author":"Patro","year":"2024","journal-title":"Pathology - Res. Pract."},{"key":"B228","doi-asserted-by":"publisher","first-page":"3077","DOI":"10.1007\/s12033-023-00927-4","article-title":"Nonsense-mediated mRNA decay: mechanistic insights and physiological significance","volume":"66","author":"Patro","year":"2024","journal-title":"Mol. Biotechnol."},{"key":"B229","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1016\/j.ajhg.2022.11.011","article-title":"Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy","volume":"110","author":"Paul","year":"2023","journal-title":"Am. J. Hum. Genet."},{"key":"B230","doi-asserted-by":"publisher","first-page":"102051","DOI":"10.1016\/j.pneurobio.2021.102051","article-title":"Presynaptic protein synthesis and brain plasticity: from physiology to neuropathology","volume":"202","author":"Perrone-Capano","year":"2021","journal-title":"Prog. Neurobiol."},{"key":"B231","doi-asserted-by":"publisher","first-page":"5293","DOI":"10.1093\/nar\/gkz193","article-title":"Integrative transcriptomic analysis suggests new autoregulatory splicing events coupled with nonsense-mediated mRNA decay","volume":"47","author":"Pervouchine","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"B232","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1101\/gad.352105.124","article-title":"The Rbfox1\/LASR complex controls alternative Pre-mRNA splicing by recognition of multipart RNA regulatory modules","volume":"39","author":"Peyda","year":"2025","journal-title":"Genes Dev."},{"key":"B233","doi-asserted-by":"publisher","first-page":"e0263287","DOI":"10.1371\/journal.pone.0263287","article-title":"Polypyrimidine tract binding proteins PTBP1 and PTBP2 interact with distinct proteins under splicing conditions","volume":"17","author":"Pina","year":"2022","journal-title":"PLOS ONE"},{"key":"B234","doi-asserted-by":"publisher","first-page":"4467","DOI":"10.3390\/ijerph17124467","article-title":"Mutation in ROBO3 gene in patients with horizontal gaze palsy with progressive scoliosis syndrome: a systematic review","volume":"17","author":"Pinero-Pinto","year":"2020","journal-title":"Int. J. Environ. Res. Public Health"},{"key":"B235","doi-asserted-by":"publisher","first-page":"3473","DOI":"10.1093\/nar\/gkw1140","article-title":"An ultraconserved element (UCE) controls homeostatic splicing of ARGLU1 mRNA","volume":"45","author":"Pirnie","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"B236","doi-asserted-by":"publisher","first-page":"102373","DOI":"10.1016\/j.gde.2025.102373","article-title":"NOVA1\/2 genes and alternative splicing in neurodevelopment","volume":"93","author":"Piton","year":"2025","journal-title":"Curr. Opin. Genet. Dev."},{"key":"B237","doi-asserted-by":"publisher","first-page":"24008","DOI":"10.1074\/jbc.272.38.24008","article-title":"Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells","volume":"272","author":"Plummer","year":"1997","journal-title":"J. Biol. Chem."},{"key":"B238","doi-asserted-by":"publisher","first-page":"2645735","DOI":"10.1080\/07853890.2026.2645735","article-title":"Alternative splicing in voltage-gated sodium channels: mechanisms, regulatory networks and therapeutic implications","volume":"58","author":"Qiu","year":"2026","journal-title":"Ann. Med."},{"key":"B239","doi-asserted-by":"publisher","first-page":"746","DOI":"10.1101\/gad.256115.114","article-title":"Essential roles for the splicing regulator nSR100\/SRRM4 during nervous system development","volume":"29","author":"Quesnel-Valli\u00e8res","year":"2015","journal-title":"Genes Dev."},{"key":"B240","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1038\/s41431-022-01046-5","article-title":"A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development","volume":"30","author":"Rahikkala","year":"2022","journal-title":"Eur. J. Hum. Genet."},{"key":"B241","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.neuron.2015.05.004","article-title":"Alternative splicing in the mammalian nervous system: recent insights into mechanisms and functional roles","volume":"87","author":"Raj","year":"2015","journal-title":"Neuron"},{"key":"B242","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1038\/s10038-023-01150-4","article-title":"A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2","volume":"68","author":"Rodr\u00edguez-Garc\u00eda","year":"2023","journal-title":"J. Hum. Genet."},{"key":"B243","doi-asserted-by":"publisher","first-page":"1442","DOI":"10.1128\/MCB.01689-08","article-title":"Auto- and cross-regulation of the hnRNP L proteins by alternative splicing","volume":"29","author":"Rossbach","year":"2009","journal-title":"Mol. Cell. Biol."},{"key":"B244","doi-asserted-by":"publisher","first-page":"169751","DOI":"10.1016\/j.jmb.2026.169751","article-title":"Biochemical insights into the conserved interactions of NMD factors from budding yeast to humans","author":"Ruiz-Gutierrez","year":"2026","journal-title":"J. Mol. Biol."},{"key":"B245","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1016\/j.neuron.2018.12.019","article-title":"Differential NOVA2-mediated splicing in excitatory and inhibitory neurons regulates cortical development and cerebellar function","volume":"101","author":"Saito","year":"2019","journal-title":"Neuron"},{"key":"B246","doi-asserted-by":"publisher","first-page":"4320","DOI":"10.1128\/MCB.00361-08","article-title":"Regulation of multiple core spliceosomal proteins by alternative splicing-coupled nonsense-mediated mRNA decay","volume":"28","author":"Saltzman","year":"2008","journal-title":"Mol. Cell. Biol."},{"key":"B247","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1016\/j.neulet.2011.04.065","article-title":"A novel nonsense mutation in KDM5C\/JARID1C gene causing intellectual disability, short stature and speech delay","volume":"498","author":"Santos-Rebou\u00e7as","year":"2011","journal-title":"Neurosci. Lett."},{"key":"B248","doi-asserted-by":"publisher","first-page":"2300039","DOI":"10.1002\/bies.202300039","article-title":"HNRNPU\u2019s multi\u2010tasking is essential for proper cortical development","volume":"45","author":"Sapir","year":"2023","journal-title":"BioEssays"},{"key":"B249","doi-asserted-by":"publisher","first-page":"7203","DOI":"10.1038\/s41467-021-27423-0","article-title":"Cellular variability of nonsense-mediated mRNA decay","volume":"12","author":"Sato","year":"2021","journal-title":"Nat. Commun."},{"key":"B250","doi-asserted-by":"publisher","first-page":"1309","DOI":"10.1152\/physrev.00047.2019","article-title":"RNA-binding proteins balance brain function in health and disease","volume":"101","author":"Schieweck","year":"2021","journal-title":"Physiol. Rev."},{"key":"B251","doi-asserted-by":"publisher","first-page":"11618","DOI":"10.3390\/ijms222111618","article-title":"miRNA-Based regulation of alternative RNA splicing in metazoans","volume":"22","author":"Schorr","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"B252","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1016\/j.ajhg.2016.02.010","article-title":"Mutations in SMG9, encoding an essential component of nonsense-mediated decay machinery, cause a multiple congenital anomaly syndrome in humans and mice","volume":"98","author":"Shaheen","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"B253","doi-asserted-by":"publisher","first-page":"991","DOI":"10.1016\/j.ajhg.2016.08.017","article-title":"De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype","volume":"99","author":"Shashi","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"B254","doi-asserted-by":"publisher","first-page":"e1788","DOI":"10.1002\/ctm2.1788","article-title":"RNA splicing factor RBFOX2 is a key factor in the progression of cancer and cardiomyopathy","volume":"14","author":"Shen","year":"2024","journal-title":"Clin. Transl. Med."},{"key":"B255","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1007\/s00431-025-06123-7","article-title":"Prediction of moderate to severe bleeding risk in pediatric immune thrombocytopenia using machine learning","volume":"184","author":"Shen","year":"2025","journal-title":"Eur. J. Pediatr."},{"key":"B256","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1016\/j.neuron.2015.12.008","article-title":"The cellular and molecular landscapes of the developing human central nervous system","volume":"89","author":"Silbereis","year":"2016","journal-title":"Neuron"},{"key":"B257","doi-asserted-by":"publisher","first-page":"eadd7046","DOI":"10.1126\/science.add7046","article-title":"Transcriptomic diversity of cell types across the adult human brain","volume":"382","author":"Siletti","year":"2023","journal-title":"Science"},{"key":"B258","doi-asserted-by":"publisher","first-page":"764","DOI":"10.1111\/cge.14610","article-title":"Dissecting CASKs sovel vplice aite variant associated with pale MICPCH Phenotype","volume":"106","author":"Silveira","year":"2024","journal-title":"Clin. Genet."},{"key":"B259","doi-asserted-by":"publisher","first-page":"17","DOI":"10.5582\/irdr.2014.01021","article-title":"ARID1B-Mediated disorders: mutations and possible mechanisms","volume":"4","author":"Sim","year":"2015","journal-title":"Intractable Rare Dis. Res."},{"key":"B260","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1016\/j.ajhg.2017.06.002","article-title":"WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features","volume":"101","author":"Skraban","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"B261","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1042\/BST20210325","article-title":"Exploring the multifunctionality of SR proteins","volume":"50","author":"Sli\u0161kovi\u0107","year":"2022","journal-title":"Biochem. Soc. Trans."},{"key":"B262","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1038\/s41439-022-00203-y","article-title":"A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with coffin-siris syndrome","volume":"9","author":"Sofronova","year":"2022","journal-title":"Hum. Genome Var."},{"key":"B263","doi-asserted-by":"publisher","first-page":"419","DOI":"10.3390\/cells12030419","article-title":"UPF1\u2014from mRNA degradation to human disorders","volume":"12","author":"Staszewski","year":"2023","journal-title":"Cells"},{"key":"B264","doi-asserted-by":"publisher","first-page":"12","DOI":"10.3389\/fmolb.2018.00012","article-title":"Alternative splicing in neurogenesis and brain development","volume":"5","author":"Su","year":"2018","journal-title":"Front. Mol. Biosci."},{"key":"B265","doi-asserted-by":"publisher","first-page":"e16992","DOI":"10.1371\/journal.pone.0016992","article-title":"PTBP1 is required for embryonic development before gastrulation","volume":"6","author":"Suckale","year":"2011","journal-title":"PLoS ONE"},{"key":"B266","doi-asserted-by":"publisher","first-page":"722","DOI":"10.3390\/biomedicines11030722","article-title":"Nonsense-mediated mRNA decay factor functions in human health and disease","volume":"11","author":"Sun","year":"2023","journal-title":"Biomedicines"},{"key":"B267","doi-asserted-by":"publisher","first-page":"933","DOI":"10.1261\/rna.080300.124","article-title":"Dynamic RNA binding and unfolding by nonsense-mediated mRNA decay factor UPF2","volume":"31","author":"Szeto","year":"2025","journal-title":"RNA"},{"key":"B268","doi-asserted-by":"publisher","first-page":"100347","DOI":"10.1016\/j.mocell.2026.100347","article-title":"Cerebellar hypoplasia caused by calcium\/calmodulin-dependent serine protein kinase deficiency","volume":"49","author":"Tabuchi","year":"2026","journal-title":"Mol. Cells"},{"key":"B269","doi-asserted-by":"publisher","first-page":"112050","DOI":"10.1016\/j.celrep.2023.112050","article-title":"NOVA1 acts on impact to regulate hypothalamic function and translation in inhibitory neurons","volume":"42","author":"Tajima","year":"2023","journal-title":"Cell Rep."},{"key":"B270","doi-asserted-by":"publisher","first-page":"1542","DOI":"10.1038\/s41467-025-56579-2","article-title":"A humanized NOVA1 splicing factor alters mouse vocal communications","volume":"16","author":"Tajima","year":"2025","journal-title":"Nat. Commun."},{"key":"B271","doi-asserted-by":"publisher","first-page":"1705","DOI":"10.1158\/1535-7163.MCT-14-0142","article-title":"Significance of polypyrimidine tract\u2013binding protein 1 expression in colorectal cancer","volume":"14","author":"Takahashi","year":"2015","journal-title":"Mol. Cancer Ther."},{"key":"B272","doi-asserted-by":"publisher","first-page":"e27869","DOI":"10.1371\/journal.pone.0027869","article-title":"hnRNP A1 and hnRNP F modulate the alternative splicing of Exon 11 of the insulin receptor gene","volume":"6","author":"Talukdar","year":"2011","journal-title":"PLoS ONE"},{"key":"B273","doi-asserted-by":"publisher","first-page":"102356","DOI":"10.1016\/j.gde.2025.102356","article-title":"Biological roles of nonsense-mediated RNA decay: insights from the nervous System","volume":"93","author":"Tan","year":"2025","journal-title":"Curr. Opin. Genet. Dev."},{"key":"B274","doi-asserted-by":"publisher","first-page":"e188014","DOI":"10.1172\/jci.insight.188014","article-title":"Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome","volume":"10","author":"Tang","year":"2025","journal-title":"JCI Insight"},{"key":"B275","doi-asserted-by":"publisher","first-page":"1127","DOI":"10.1038\/ng2100","article-title":"Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation","volume":"39","author":"Tarpey","year":"2007","journal-title":"Nat. Genet."},{"key":"B276","doi-asserted-by":"publisher","first-page":"169765","DOI":"10.1016\/j.jmb.2026.169765","article-title":"Molecular determinants and therapeutic targeting of stop codon readthrough in eukaryotic translation","author":"Teodorowicz","year":"2026","journal-title":"J. Mol. Biol."},{"key":"B277","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1038\/s41588-019-0555-z","article-title":"RNA isoform screens uncover the essentiality and tumor-suppressor activity of ultraconserved poison exons","volume":"52","author":"Thomas","year":"2020","journal-title":"Nat. Genet."},{"key":"B278","doi-asserted-by":"publisher","first-page":"536","DOI":"10.3390\/genes13030536","article-title":"Possible Catch-Up developmental trajectories for children with mild developmental delay caused by NAA15 pathogenic variants","volume":"13","author":"Tian","year":"2022","journal-title":"Genes"},{"key":"B279","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1007\/s00439-025-02813-2","article-title":"A homozygous synonymous variant in SMG5, encoding a nonsense-mediated mRNA decay factor, causes developmental delay with growth retardation and relative macrocephaly","volume":"145","author":"Tibbe","year":"2026","journal-title":"Hum. Genet."},{"key":"B280","doi-asserted-by":"publisher","first-page":"1411639","DOI":"10.3389\/fnmol.2024.1411639","article-title":"hnRNPs: roles in neurodevelopment and implication for brain disorders","volume":"17","author":"Tilliole","year":"2024","journal-title":"Front. Mol. Neurosci."},{"key":"B281","doi-asserted-by":"publisher","first-page":"775395","DOI":"10.3389\/fgene.2021.775395","article-title":"Exploring the diverse functional and regulatory consequences of alternative splicing in development and disease","volume":"12","author":"Titus","year":"2021","journal-title":"Front. Genet."},{"key":"B282","doi-asserted-by":"publisher","first-page":"e1011855","DOI":"10.1371\/journal.pgen.1011855","article-title":"Clusters of deep intronic RbFox motifs embedded in large assembly of splicing regulators sequences regulate alternative splicing","volume":"21","author":"Tomassoni-Ardori","year":"2025","journal-title":"PLOS Genet."},{"key":"B283","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1016\/j.ajhg.2023.11.007","article-title":"Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases","volume":"111","author":"Torene","year":"2024","journal-title":"Am. J. Hum. Genet."},{"key":"B284","doi-asserted-by":"publisher","first-page":"3278","DOI":"10.3390\/ijms27073278","article-title":"Unraveling the genetic and molecular architecture of autism spectrum disorder: implications for clinical genetics and genomic diagnostics","volume":"27","author":"Treccarichi","year":"2026","journal-title":"Int. J. Mol. Sci."},{"key":"B285","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1111\/cge.14735","article-title":"A novel UPF1 variant associated with a rare UPF1 \u2010related neurodevelopmental disorder","volume":"108","author":"T\u00fcmer","year":"2025","journal-title":"Clin. Genet."},{"key":"B286","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1038\/nature05304","article-title":"An RNA map predicting Nova-dependent splicing regulation","volume":"444","author":"Ule","year":"2006","journal-title":"Nature"},{"key":"B287","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1016\/j.biopsych.2018.02.1173","article-title":"Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP","volume":"85","author":"Van Dijck","year":"2019","journal-title":"Biol. Psychiatry"},{"key":"B288","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1186\/s13059-023-03088-4","article-title":"CHESS 3: an improved, comprehensive catalog of human genes and transcripts based on large-scale expression data, phylogenetic analysis, and protein structure","volume":"24","author":"Varabyou","year":"2023","journal-title":"Genome Biol."},{"key":"B289","doi-asserted-by":"publisher","first-page":"e70031","DOI":"10.1002\/iub.70031","article-title":"Nonsense mutations in rare and ultra\u2010rare human disorders: an overview","volume":"77","author":"Vitale","year":"2025","journal-title":"IUBMB Life"},{"key":"B290","doi-asserted-by":"publisher","first-page":"23","DOI":"10.32607\/actanaturae.26826","article-title":"Cooperation and competition of RNA secondary structure and RNA\u2013protein interactions in the regulation of alternative splicing","volume":"15","author":"Vorobeva","year":"2024","journal-title":"Acta Naturae"},{"key":"B291","doi-asserted-by":"publisher","first-page":"e1009195","DOI":"10.1371\/journal.pgen.1009195","article-title":"Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy","volume":"17","author":"Voskobiynyk","year":"2021","journal-title":"PLOS Genet."},{"key":"B292","doi-asserted-by":"publisher","first-page":"2766","DOI":"10.1016\/j.celrep.2016.11.034","article-title":"PTBP1 and PTBP2 serve both specific and redundant functions in neuronal Pre-mRNA splicing","volume":"17","author":"Vuong","year":"2016","journal-title":"Cell Rep."},{"key":"B293","doi-asserted-by":"publisher","first-page":"2000242","DOI":"10.1002\/bies.202000242","article-title":"Noncanonical functions of the serine\u2010arginine\u2010rich splicing factor (SR) family of proteins in development and disease","volume":"43","author":"Wagner","year":"2021","journal-title":"BioEssays"},{"key":"B294","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1016\/j.bbagrm.2013.01.003","article-title":"RNA decay machines: deadenylation by the Ccr4\u2013Not and Pan2\u2013Pan3 complexes","volume":"1829","author":"Wahle","year":"2013","journal-title":"Biochimica Biophysica Acta (BBA) - Gene Regul. Mech."},{"key":"B295","doi-asserted-by":"publisher","first-page":"EMBJ2021109191","DOI":"10.15252\/embj.2021109191","article-title":"Human UPF3A and UPF3B enable fault\u2010tolerant activation of nonsense\u2010mediated mRNA decay","volume":"41","author":"Wallmeroth","year":"2022","journal-title":"EMBO J."},{"key":"B296","doi-asserted-by":"publisher","first-page":"846","DOI":"10.1016\/j.neuron.2018.09.026","article-title":"Rbfox1 mediates cell-type-specific splicing in cortical interneurons","volume":"100","author":"Wamsley","year":"2018","journal-title":"Neuron"},{"key":"B297","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1016\/j.tins.2010.01.005","article-title":"Spatially restricting gene expression by local translation at synapses","volume":"33","author":"Wang","year":"2010","journal-title":"Trends Neurosci."},{"key":"B298","doi-asserted-by":"publisher","first-page":"17383","DOI":"10.1038\/srep17383","article-title":"RBFOX3\/NeuN is required for hippocampal circuit balance and function","volume":"5","author":"Wang","year":"2015","journal-title":"Sci. Rep."},{"key":"B299","doi-asserted-by":"publisher","first-page":"4646","DOI":"10.3390\/ijms24054646","article-title":"Transcytosable peptide-paclitaxel prodrug nanoparticle for targeted treatment of triple-negative breast cancer","volume":"24","author":"Wang","year":"2023","journal-title":"Int. J. Mol. Sci."},{"key":"B300","doi-asserted-by":"publisher","first-page":"1156","DOI":"10.1161\/CIRCRESAHA.120.316966","article-title":"Mechanisms of congenital heart disease caused by NAA15 haploinsufficiency","volume":"128","author":"Ward","year":"2021","journal-title":"Circulation Res."},{"key":"B301","doi-asserted-by":"publisher","first-page":"10218","DOI":"10.1093\/nar\/gkad703","article-title":"Srsf1 and Elavl1 act antagonistically on neuronal fate choice in the developing neocortex by controlling TrkC receptor isoform expression","volume":"51","author":"Weber","year":"2023","journal-title":"Nucleic Acids Res."},{"key":"B302","doi-asserted-by":"publisher","first-page":"7702","DOI":"10.1038\/s41467-025-62793-9","article-title":"Charting the spatial transcriptome of the human cerebral cortex at single-cell resolution","volume":"16","author":"Wei","year":"2025","journal-title":"Nat. Commun."},{"key":"B304","doi-asserted-by":"publisher","first-page":"852","DOI":"10.1016\/j.neuron.2017.07.016","article-title":"RNA docking and local translation regulate site-specific axon remodeling in vivo","volume":"95","author":"Wong","year":"2017","journal-title":"Neuron"},{"key":"B305","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1155\/2019\/9612425","article-title":"Inclusion of hnRNP L alternative exon 7 is associated with good prognosis and inhibited by oncogene SRSF3 in head and neck squamous cell carcinoma","volume":"2019","author":"Xu","year":"2019","journal-title":"BioMed Res. Int."},{"key":"B306","doi-asserted-by":"publisher","first-page":"1054","DOI":"10.1038\/nsmb1016","article-title":"Concerted action of Poly(A) nucleases and decapping enzyme in mammalian mRNA turnover","volume":"12","author":"Yamashita","year":"2005","journal-title":"Nat. Struct. Mol. Biol."},{"key":"B307","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1186\/s12920-022-01217-9","article-title":"Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing","volume":"15","author":"Yang","year":"2022","journal-title":"BMC Med. Genomics"},{"key":"B308","doi-asserted-by":"publisher","first-page":"1637","DOI":"10.1016\/j.neuron.2023.02.021","article-title":"Upregulation of SYNGAP1 expression in mice and human neurons by redirecting alternative splicing","volume":"111","author":"Yang","year":"2023","journal-title":"Neuron"},{"key":"B309","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1186\/s13059-023-03128-z","article-title":"Phase separation as a possible mechanism for dosage sensitivity","volume":"25","author":"Yang","year":"2024","journal-title":"Genome Biol."},{"key":"B310","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1038\/s41419-023-06071-w","article-title":"Deletion of ARGLU1 causes global defects in alternative splicing in vivo and mouse cortical malformations primarily via apoptosis","volume":"14","author":"Yao","year":"2023","journal-title":"Cell Death Dis."},{"key":"B311","doi-asserted-by":"publisher","first-page":"1209","DOI":"10.1101\/gad.188037.112","article-title":"Coordinated regulation of neuronal mRNA steady-state levels through developmentally controlled intron retention","volume":"26","author":"Yap","year":"2012","journal-title":"Genes Dev."},{"key":"B312","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1016\/j.cell.2017.06.022","article-title":"Splicing activation by rbfox requires self-aggregation through its tyrosine-rich domain","volume":"170","author":"Ying","year":"2017","journal-title":"Cell"},{"key":"B313","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1016\/j.devcel.2022.01.011","article-title":"SRSF1 governs progenitor-specific alternative splicing to maintain adult epithelial tissue homeostasis and renewal","volume":"57","author":"Yu","year":"2022","journal-title":"Dev. Cell"},{"key":"B314","doi-asserted-by":"publisher","first-page":"86","DOI":"10.21037\/tp-22-220","article-title":"A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review","volume":"12","author":"Yuan","year":"2023","journal-title":"Transl. Pediatr."},{"key":"B315","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1186\/s12864-017-3671-0","article-title":"Comprehensive whole genome sequence analyses yields novel genetic and structural insights for intellectual disability","volume":"18","author":"Zahir","year":"2017","journal-title":"BMC Genomics"},{"key":"B316","doi-asserted-by":"publisher","first-page":"2495","DOI":"10.1038\/s41418-019-0411-9","article-title":"Translating neural stem cells to neurons in the mammalian brain","volume":"26","author":"Zahr","year":"2019","journal-title":"Cell Death Differ."},{"key":"B317","doi-asserted-by":"publisher","first-page":"75","DOI":"10.32607\/actanaturae.27572","article-title":"Classification and quantification of unproductive splicing events","volume":"17","author":"Zavileysky","year":"2025","journal-title":"Acta Naturae"},{"key":"B318","doi-asserted-by":"publisher","first-page":"17746","DOI":"10.1074\/jbc.M110.206029","article-title":"Arginine and glutamate-rich 1 (ARGLU1) interacts with mediator subunit 1 (MED1) and is required for estrogen receptor-mediated gene transcription and breast cancer cell growth","volume":"286","author":"Zhang","year":"2011","journal-title":"J. Biol. Chem."},{"key":"B319","doi-asserted-by":"publisher","first-page":"1147","DOI":"10.1016\/j.cell.2016.07.025","article-title":"Cell-type-specific alternative splicing governs cell fate in the developing cerebral cortex","volume":"166","author":"Zhang","year":"2016","journal-title":"Cell"},{"key":"B320","doi-asserted-by":"publisher","first-page":"113827","DOI":"10.1016\/j.celrep.2024.113827","article-title":"SRRM2 phase separation drives assembly of nuclear speckle subcompartments","volume":"43","author":"Zhang","year":"2024","journal-title":"Cell Rep."},{"key":"B321","doi-asserted-by":"publisher","first-page":"5033","DOI":"10.1111\/epi.18621","article-title":"Haploinsufficiency of brain\u2010specific kinase BRSK1 causes epilepsy and neurodevelopmental disorders","volume":"66","author":"Zhang","year":"2025","journal-title":"Epilepsia"},{"key":"B322","doi-asserted-by":"publisher","first-page":"1773363","DOI":"10.3389\/fneur.2026.1773363","article-title":"Research progress in SYNGAP1-related neurodevelopmental disorders: from pathogenesis to therapeutic strategies","volume":"17","author":"Zhang","year":"2026","journal-title":"Front. Neurology"},{"key":"B323","doi-asserted-by":"publisher","first-page":"e200356","DOI":"10.1212\/NXG.0000000000200356","article-title":"Characterization of a splice variant in FLNA associated with periventricular nodular heterotopia","volume":"12","author":"Zhang","year":"2026","journal-title":"Neurol. Genet."},{"key":"B324","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1186\/1755-8166-6-26","article-title":"Intragenic deletion of RBFOX1 associated with neurodevelopmental\/neuropsychiatric disorders and possibly other clinical presentations","volume":"6","author":"Zhao","year":"2013","journal-title":"Mol. Cytogenet."},{"key":"B325","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1002\/jdn.10100","article-title":"Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: two novel mutations in the CASK gene were discovered in Chinese females","volume":"81","author":"Zhao","year":"2021","journal-title":"Int. J. Dev. Neurosci."},{"key":"B326","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1038\/nn.3026","article-title":"PSD-95 is post-transcriptionally repressed during early neural development by PTBP1 and PTBP2","volume":"15","author":"Zheng","year":"2012","journal-title":"Nat. Neurosci."},{"key":"B327","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1631\/jzus.B1900422","article-title":"Roles of PTBP1 in alternative splicing, glycolysis, and oncogensis","volume":"21","author":"Zhu","year":"2020","journal-title":"J. Zhejiang University-SCIENCE B"},{"key":"B328","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1186\/s13059-024-03305-8","article-title":"Alternative splicing coupled to nonsense-mediated decay coordinates downregulation of non-neuronal genes in developing mouse neurons","volume":"25","author":"Zhuravskaya","year":"2024","journal-title":"Genome Biol."},{"key":"B329","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1186\/s13064-015-0045-7","article-title":"A critical role of RBM8a in proliferation and differentiation of embryonic neural progenitors","volume":"10","author":"Zou","year":"2015","journal-title":"Neural Dev."}],"container-title":["Frontiers in Molecular Biosciences"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmolb.2026.1914793\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T08:07:31Z","timestamp":1787299651000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmolb.2026.1914793\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,21]]},"references-count":326,"alternative-id":["10.3389\/fmolb.2026.1914793"],"URL":"https:\/\/doi.org\/10.3389\/fmolb.2026.1914793","relation":{},"ISSN":["2296-889X"],"issn-type":[{"value":"2296-889X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,21]]},"article-number":"1914793"}}