{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T10:52:33Z","timestamp":1785408753266,"version":"3.56.0"},"reference-count":279,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T00:00:00Z","timestamp":1776211200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["AU96\/21-1"],"award-info":[{"award-number":["AU96\/21-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SFB1039"],"award-info":[{"award-number":["SFB1039"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"award":["AU96\/21-1"],"award-info":[{"award-number":["AU96\/21-1"]}],"id":[{"id":"https:\/\/ror.org\/018mejw64","id-type":"ROR","asserted-by":"publisher"}]},{"award":["SFB1039"],"award-info":[{"award-number":["SFB1039"]}],"id":[{"id":"https:\/\/ror.org\/018mejw64","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Spinocerebellar Ataxia type 2 (SCA2) and Amyotrophic Lateral Sclerosis type 13 (ALS13) are triggered by polyglutamine expansion in Ataxin-2 (ATXN2). To understand these neurodegenerative disorders at the molecular level, the brains of 10-month-old Atxn2-CAG100-knockin mice were analyzed as microglial, astroglial and neuronal fractions via global RNA sequencing. Data were validated by comparison with the spinal cord oligonucleotide microarray profile or filtered by RNA-seq consistency. Here, we show that the mutation causes a massive inflammatory response in microglia and a reciprocal loss of neuronal transcripts in glial fractions, suggesting severe synapse loss. Beyond these general neurodegenerative signs, we identify pathognomonic changes in the machinery for protein translation and RNA splicing. Glial fractions showed upregulation of Gpnmb (to 2082%), Cst7, Clec7a, Axl, Csf1, Lgals3, Lgals3bp, Slc11a1, and Usp18 as an unspecific neuroinflammatory signature, versus downregulation of axonal Nefh (to &lt;19%), and synaptic Scn4b, Camk2b, Rab15, and Grin1 mRNAs correlating with circuit disconnection. In all fractions, reductions in Kif5a, Rph3a, and Cplx1 were noted versus disease-specific inductions of ribosomal subunits, presumably mirroring the partial loss-of-function of ATXN2 as RNA translation modulator. Selective accumulations of embryonic factors Rnu1b2 and Eef1a1 versus downregulation of adult Eef1a2 specify the mutation impact on splicing and translation elongation. As a potential underpinning of toxic gain-of-function, the proteostasis transcript Rnf213 appeared increased in astroglial and microglial fractions. These transcriptome data suggest altered ribosomal and spliceosome machinery, with massive microgliosis versus mild astrogliosis, at the core of SCA2 and ALS13.<\/jats:p>","DOI":"10.3390\/cells15080699","type":"journal-article","created":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T15:56:56Z","timestamp":1776268616000},"page":"699","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Astro-Versus Microglia-Enriched Transcriptomes from Aged Atxn2-CAG100-Knockin Mice Suggest Underlying Pathology of RNA Processing at Ribosomes, and Possibly at U-Bodies"],"prefix":"10.3390","volume":"15","author":[{"given":"Georg","family":"Auburger","sequence":"first","affiliation":[{"name":"Experimental Neurology, Clinic of Neurology, University Hospital, Goethe University Frankfurt, Heinrich-Hoffmann-Str. 7, 60528 Frankfurt am Main, Germany"},{"name":"Institute for Clinical Neuroanatomy, Dr. Senckenberg Anatomy, Fachbereich Medizin, Goethe University Frankfurt, 60528 Frankfurt am Main, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4020-1769","authenticated-orcid":false,"given":"Arvind Reddy","family":"Kandi","sequence":"additional","affiliation":[{"name":"Experimental Neurology, Clinic of Neurology, University Hospital, Goethe University Frankfurt, Heinrich-Hoffmann-Str. 7, 60528 Frankfurt am Main, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7890-9471","authenticated-orcid":false,"given":"Rajkumar","family":"Vutukuri","sequence":"additional","affiliation":[{"name":"Institute of General Pharmacology and Toxicology, University Hospital, Goethe University Frankfurt, 60528 Frankfurt am Main, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0887-2359","authenticated-orcid":false,"given":"Luis-Enrique","family":"Almaguer-Mederos","sequence":"additional","affiliation":[{"name":"Experimental Neurology, Clinic of Neurology, University Hospital, Goethe University Frankfurt, Heinrich-Hoffmann-Str. 7, 60528 Frankfurt am Main, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzana","family":"Gispert","sequence":"additional","affiliation":[{"name":"Experimental Neurology, Clinic of Neurology, University Hospital, Goethe University Frankfurt, Heinrich-Hoffmann-Str. 7, 60528 Frankfurt am Main, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nesli-Ece","family":"Sen","sequence":"additional","affiliation":[{"name":"Experimental Neurology, Clinic of Neurology, University Hospital, Goethe University Frankfurt, Heinrich-Hoffmann-Str. 7, 60528 Frankfurt am Main, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Key","sequence":"additional","affiliation":[{"name":"Experimental Neurology, Clinic of Neurology, University Hospital, Goethe University Frankfurt, Heinrich-Hoffmann-Str. 7, 60528 Frankfurt am Main, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/0888-7543(95)80043-L","article-title":"Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1","volume":"25","author":"Hernandez","year":"1995","journal-title":"Genomics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1212\/WNL.44.8.1423","article-title":"Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus","volume":"44","author":"Belal","year":"1994","journal-title":"Neurology"},{"key":"ref_3","first-page":"1163","article-title":"Autosomal dominant ataxia: Genetic evidence for locus heterogeneity from a Cuban founder-effect population","volume":"46","author":"Auburger","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1038\/ng0793-295","article-title":"Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1","volume":"4","author":"Gispert","year":"1993","journal-title":"Nat. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1093\/brain\/94.2.359","article-title":"A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families)","volume":"94","author":"Wadia","year":"1971","journal-title":"Brain"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1212\/WNL.40.9.1369","article-title":"Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba","volume":"40","author":"Auburger","year":"1990","journal-title":"Neurology"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1007\/s004010050989","article-title":"Spinocerebellar ataxia 2 (SCA2): Morphometric analyses in 11 autopsies","volume":"97","author":"Estrada","year":"1999","journal-title":"Acta Neuropathol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1002\/ana.20220","article-title":"Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2","volume":"56","author":"Seifried","year":"2004","journal-title":"Ann. Neurol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/j.1399-0004.2009.01358.x","article-title":"Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis","volume":"78","author":"Falcon","year":"2010","journal-title":"Clin. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1111\/j.1399-0004.2012.01902.x","article-title":"Estimation of survival in spinocerebellar ataxia type 2 Cuban patients","volume":"83","author":"Auburger","year":"2013","journal-title":"Clin. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1007\/s12311-016-0827-4","article-title":"Corticomuscular Coherence: A Novel Tool to Assess the Pyramidal Tract Dysfunction in Spinocerebellar Ataxia Type 2","volume":"16","author":"Tunnerhoff","year":"2017","journal-title":"Cerebellum"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.sleep.2019.04.005","article-title":"Sleep spindles and K-complex activities are decreased in spinocerebellar ataxia type 2: Relationship to memory and motor performances","volume":"60","author":"Voss","year":"2019","journal-title":"Sleep. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2493","DOI":"10.1016\/j.clinph.2017.10.009","article-title":"Early corticospinal tract damage in prodromal SCA2 revealed by EEG-EMG and EMG-EMG coherence","volume":"128","author":"Tunnerhoff","year":"2017","journal-title":"Clin. Neurophysiol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1002\/acn3.504","article-title":"Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2","volume":"5","author":"Reetz","year":"2018","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1747","DOI":"10.1080\/1028415X.2021.1895479","article-title":"Weight loss is correlated with disease severity in Spinocerebellar ataxia type 2: A cross-sectional cohort study","volume":"25","year":"2022","journal-title":"Nutr. Neurosci."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1372","DOI":"10.1002\/mds.28498","article-title":"Body Mass Index Is Significantly Associated With Disease Severity in Spinocerebellar Ataxia Type 2 Patients","volume":"36","author":"Auburger","year":"2021","journal-title":"Mov. Disord."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/mds.28343","article-title":"Prodromal Spinocerebellar Ataxia Type 2 Subjects Have Quantifiable Gait and Postural Sway Deficits","volume":"36","author":"Auburger","year":"2021","journal-title":"Mov. Disord."},{"key":"ref_18","first-page":"1101","article-title":"COVID-19 Impacts the Mental Health and Speech Function in Spinocerebellar Ataxia Type 2: Evidences from a Follow-Up Study","volume":"23","year":"2024","journal-title":"Cerebellum"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1002\/mds.29359","article-title":"Peripheral Inflammation Links with the Severity of Clinical Phenotype in Spinocerebellar Ataxia 2","volume":"38","author":"Ziemann","year":"2023","journal-title":"Mov. Disord."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1007\/s12311-025-01933-9","article-title":"Progression of Gait Ataxia in Spinocerebellar Ataxia Type 2: Clinical Utility of Digitally Measured Gait Metrics","volume":"24","author":"Ziemann","year":"2025","journal-title":"Cerebellum"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1007\/s12311-024-01674-1","article-title":"Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype","volume":"23","author":"Romanzetti","year":"2024","journal-title":"Cerebellum"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1001\/archneur.1997.00550210011007","article-title":"Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds","volume":"54","author":"Schols","year":"1997","journal-title":"Arch. Neurol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s12311-008-0019-y","article-title":"Spinocerebellar ataxia 2 (SCA2)","volume":"7","author":"Rub","year":"2008","journal-title":"Cerebellum"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1002\/mds.21338","article-title":"Subthalamic-thalamic DBS in a case with spinocerebellar ataxia type 2 and severe tremor-A unusual clinical benefit","volume":"22","author":"Freund","year":"2007","journal-title":"Mov. Disord."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1966","DOI":"10.1212\/01.wnl.0000247054.90322.14","article-title":"Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2)","volume":"67","author":"Tuin","year":"2006","journal-title":"Neurology"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/B978-0-444-51892-7.00026-7","article-title":"Spinocerebellar ataxia type 2","volume":"103","author":"Auburger","year":"2012","journal-title":"Handb. Clin. Neurol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/s12311-010-0239-9","article-title":"Spinocerebellar ataxia type 2 (SCA2): Identification of early brain degeneration in one monozygous twin in the initial disease stage","volume":"10","author":"Hoche","year":"2011","journal-title":"Cerebellum"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.pneurobio.2013.01.001","article-title":"Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7","volume":"104","author":"Rub","year":"2013","journal-title":"Prog. Neurobiol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1440-1827.1997.tb04429.x","article-title":"Clinicopathology of spinocerebellar degeneration: Its correlation to the unstable CAG repeat of the affected gene","volume":"47","author":"Yagishita","year":"1997","journal-title":"Pathol. Int."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/S0022-510X(98)00040-9","article-title":"Analysis of spinocerebellar ataxia type 2 in Gunma Prefecture in Japan: CAG trinucleotide expansion and clinical characteristics","volume":"156","author":"Mizushima","year":"1998","journal-title":"J. Neurol. Sci."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1136\/jnnp.65.4.530","article-title":"Electrophysiological features of central motor conduction in spinocerebellar atrophy type 1, type 2, and Machado-Joseph disease","volume":"65","author":"Yokota","year":"1998","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_32","first-page":"12","article-title":"Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: Spinocerebellar ataxia type 2)","volume":"3","author":"Durr","year":"1995","journal-title":"Clin. Neurosci."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1002\/ana.410430306","article-title":"Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I","volume":"43","author":"Durr","year":"1998","journal-title":"Ann. Neurol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1093\/hmg\/6.5.709","article-title":"Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families","volume":"6","author":"Cancel","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1093\/brain\/118.6.1573","article-title":"Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families","volume":"118","author":"Durr","year":"1995","journal-title":"Brain"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1093\/brain\/121.3.459","article-title":"The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates","volume":"121","author":"Giunti","year":"1998","journal-title":"Brain"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"2341","DOI":"10.1093\/brain\/121.12.2341","article-title":"A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis","volume":"121","author":"Wadia","year":"1998","journal-title":"Brain"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1038\/sj.ejhg.5200372","article-title":"A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin","volume":"7","author":"Pang","year":"1999","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1212\/WNL.51.2.595","article-title":"Spinocerebellar ataxia type 2 in China: Molecular analysis and genotype-phenotype correlation in nine families","volume":"51","author":"Zhou","year":"1998","journal-title":"Neurology"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1001\/archneur.55.10.1353","article-title":"Oculomotor phenotypes in autosomal dominant ataxias","volume":"55","author":"Buttner","year":"1998","journal-title":"Arch. Neurol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1002\/(SICI)1096-8628(19981012)79:5<383::AID-AJMG10>3.0.CO;2-N","article-title":"Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion","volume":"79","author":"Snow","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1097\/00005072-199806000-00001","article-title":"The hereditary ataxias","volume":"57","author":"Koeppen","year":"1998","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1212\/WNL.49.4.1163","article-title":"Clinical and molecular analysis of a pedigree of southern Italian ancestry with spinocerebellar ataxia type 2","volume":"49","author":"Adams","year":"1997","journal-title":"Neurology"},{"key":"ref_44","first-page":"842","article-title":"The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia","volume":"60","author":"Geschwind","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1146\/annurev.ne.19.030196.000455","article-title":"Trinucleotide repeats in neurogenetic disorders","volume":"19","author":"Paulson","year":"1996","journal-title":"Annu. Rev. Neurosci."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1177\/088307389501000503","article-title":"Clinical aspects of hereditary ataxias","volume":"10","author":"Subramony","year":"1995","journal-title":"J. Child Neurol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/ng1196-277","article-title":"Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT","volume":"14","author":"Sanpei","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/ng1196-285","article-title":"Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG\/glutamine repeats","volume":"14","author":"Imbert","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1038\/ng1196-269","article-title":"Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2","volume":"14","author":"Pulst","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1038\/nature09320","article-title":"Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS","volume":"466","author":"Elden","year":"2010","journal-title":"Nature"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1697","DOI":"10.1093\/hmg\/ddr045","article-title":"Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients","volume":"20","author":"Lee","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1016\/j.nbd.2011.08.021","article-title":"The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect","volume":"45","author":"Gispert","year":"2012","journal-title":"Neurobiol. Dis."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1001\/jamaneurol.2014.2082","article-title":"Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: A meta-analysis","volume":"71","author":"Neuenschwander","year":"2014","journal-title":"JAMA Neurol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"7484","DOI":"10.1038\/s41467-024-51676-0","article-title":"ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes","volume":"15","author":"Harschnitz","year":"2024","journal-title":"Nat. Commun."},{"key":"ref_55","doi-asserted-by":"crossref","unstructured":"Auburger, G.W.J., Key, J., Gispert, S., Lastres-Becker, I., Almaguer-Mederos, L.E., Bassa, C., Auburger, A., Auburger, G., Arsovic, A., and Deller, T. (2026). Bioinformatic Analyses of the Ataxin-2 Family Since Algae Emphasize Its Small Isoforms, Large Chimerisms, and the Importance of Human Exon 1B as Target of Therapies to Prevent Neurodegeneration. Int. J. Mol. Sci., 27.","DOI":"10.20944\/preprints202601.0750.v1"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1093\/genetics\/162.4.1687","article-title":"A Drosophila homolog of the polyglutamine disease gene SCA2 is a dosage-sensitive regulator of actin filament formation","volume":"162","author":"Satterfield","year":"2002","journal-title":"Genetics"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"3155","DOI":"10.1111\/j.1432-1033.2004.04245.x","article-title":"Structural and functional analysis of ataxin-2 and ataxin-3","volume":"271","author":"Albrecht","year":"2004","journal-title":"Eur. J. Biochem."},{"key":"ref_58","doi-asserted-by":"crossref","unstructured":"Jimenez-Lopez, D., and Guzman, P. (2014). Insights into the evolution and domain structure of Ataxin-2 proteins across eukaryotes. BMC Res. Notes, 7.","DOI":"10.1186\/1756-0500-7-453"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/j.tins.2017.06.004","article-title":"Efficient Prevention of Neurodegenerative Diseases by Depletion of Starvation Response Factor Ataxin-2","volume":"40","author":"Auburger","year":"2017","journal-title":"Trends Neurosci."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"2020","DOI":"10.1016\/j.molcel.2023.05.025","article-title":"Poly(A)-binding protein is an ataxin-2 chaperone that regulates biomolecular condensates","volume":"83","author":"Boeynaems","year":"2023","journal-title":"Mol. Cell"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1016\/j.neuron.2018.04.032","article-title":"RNP-Granule Assembly via Ataxin-2 Disordered Domains Is Required for Long-Term Memory and Neurodegeneration","volume":"98","author":"Bakthavachalu","year":"2018","journal-title":"Neuron"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.molcel.2014.05.022","article-title":"Direct binding of Ataxin-2 to distinct elements in 3\u2032 UTRs promotes mRNA stability and protein expression","volume":"55","author":"Yokoshi","year":"2014","journal-title":"Mol. Cell"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1091\/mbc.e06-12-1120","article-title":"Ataxin-2 interacts with the DEAD\/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules","volume":"18","author":"Nonhoff","year":"2007","journal-title":"Mol. Biol. Cell"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"107413","DOI":"10.1016\/j.jbc.2024.107413","article-title":"PolyQ-expanded ataxin-2 aggregation impairs cellular processing-body homeostasis via sequestering the RNA helicase DDX6","volume":"300","author":"Wang","year":"2024","journal-title":"J. Biol. Chem."},{"key":"ref_65","doi-asserted-by":"crossref","unstructured":"Damrath, E., Heck, M.V., Gispert, S., Azizov, M., Nowock, J., Seifried, C., Rub, U., Walter, M., and Auburger, G. (2012). ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice. PLoS Genet., 8.","DOI":"10.1371\/journal.pgen.1002920"},{"key":"ref_66","doi-asserted-by":"crossref","unstructured":"Key, J., Harter, P.N., Sen, N.E., Gradhand, E., Auburger, G., and Gispert, S. (2020). Mid-Gestation lethality of Atxn2l-Ablated Mice. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21145124"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"106903","DOI":"10.1016\/j.nbd.2025.106903","article-title":"ATXN2L primarily interacts with NUFIP2, the absence of ATXN2L results in NUFIP2 depletion, and the ATXN2-polyQ expansion triggers NUFIP2 accumulation","volume":"209","author":"Key","year":"2025","journal-title":"Neurobiol. Dis."},{"key":"ref_68","doi-asserted-by":"crossref","unstructured":"Key, J., Almaguer-Mederos, L.E., Kandi, A.R., Fellenz, M., Gispert, S., Kopf, G., Meierhofer, D., Deller, T., and Auburger, G. (2025). Conditional ATXN2L-Null in Adult Frontal Cortex CamK2a+ Neurons Does Not Cause Cell Death but Restricts Spontaneous Mobility and Affects the Alternative Splicing Pathway. Cells, 14.","DOI":"10.20944\/preprints202509.0886.v1"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1093\/hmg\/ddn035","article-title":"Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice","volume":"17","author":"Brodesser","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"1558","DOI":"10.1016\/j.bbadis.2016.05.017","article-title":"Mammalian ataxin-2 modulates translation control at the pre-initiation complex via PI3K\/mTOR and is induced by starvation","volume":"1862","author":"Nonis","year":"2016","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.bbrc.2005.10.186","article-title":"Generation and characterization of Sca2 (ataxin-2) knockout mice","volume":"339","author":"Kiehl","year":"2006","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1007\/s10048-015-0441-5","article-title":"Genetic ablation of ataxin-2 increases several global translation factors in their transcript abundance but decreases translation rate","volume":"16","author":"Fittschen","year":"2015","journal-title":"Neurogenetics"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"4831","DOI":"10.1242\/dev.01352","article-title":"ATX-2, the C. elegans ortholog of ataxin 2, functions in translational regulation in the germline","volume":"131","author":"Ciosk","year":"2004","journal-title":"Development"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1385\/JMN:15:3:231","article-title":"The ortholog of human ataxin-2 is essential for early embryonic patterning in C. elegans","volume":"15","author":"Kiehl","year":"2000","journal-title":"J. Mol. Neurosci."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"E4620","DOI":"10.1073\/pnas.1512156113","article-title":"Cell size and fat content of dietary-restricted Caenorhabditis elegans are regulated by ATX-2, an mTOR repressor","volume":"113","author":"Bar","year":"2016","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1126\/science.1234785","article-title":"ATAXIN-2 activates PERIOD translation to sustain circadian rhythms in Drosophila","volume":"340","author":"Lim","year":"2013","journal-title":"Science"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"E655","DOI":"10.1073\/pnas.1107198108","article-title":"The Ataxin-2 protein is required for microRNA function and synapse-specific long-term olfactory habituation","volume":"108","author":"McCann","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.molcel.2017.03.004","article-title":"LSM12 and ME31B\/DDX6 Define Distinct Modes of Posttranscriptional Regulation by ATAXIN-2 Protein Complex in Drosophila Circadian Pacemaker Neurons","volume":"66","author":"Lee","year":"2017","journal-title":"Mol. Cell"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1126\/science.1234746","article-title":"A role for Drosophila ATX2 in activation of PER translation and circadian behavior","volume":"340","author":"Zhang","year":"2013","journal-title":"Science"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1128\/EC.00370-12","article-title":"Pbp1 is involved in Ccr4- and Khd1-mediated regulation of cell growth through association with ribosomal proteins Rpl12a and Rpl12b","volume":"12","author":"Kimura","year":"2013","journal-title":"Eukaryot. Cell"},{"key":"ref_81","doi-asserted-by":"crossref","unstructured":"Swisher, K.D., and Parker, R. (2010). Localization to, and effects of Pbp1, Pbp4, Lsm12, Dhh1, and Pab1 on stress granules in Saccharomyces cerevisiae. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0010006"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"1728","DOI":"10.1074\/mcp.M115.056770","article-title":"Ataxin-2 (Atxn2)-Knock-Out Mice Show Branched Chain Amino Acids and Fatty Acids Pathway Alterations","volume":"15","author":"Meierhofer","year":"2016","journal-title":"Mol. Cell. Proteom."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1021\/acs.jproteome.6b00647","article-title":"Quantitative Global Proteomics of Yeast PBP1 Deletion Mutants and Their Stress Responses Identifies Glucose Metabolism, Mitochondrial, and Stress Granule Changes","volume":"16","author":"Seidel","year":"2017","journal-title":"J. Proteome Res."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.expneurol.2008.09.020","article-title":"Ataxin-2 associates with rough endoplasmic reticulum","volume":"215","author":"Eich","year":"2009","journal-title":"Exp. Neurol."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"2523","DOI":"10.1093\/hmg\/ddl173","article-title":"Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes","volume":"15","author":"Satterfield","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"ref_86","doi-asserted-by":"crossref","unstructured":"Dansithong, W., Paul, S., Figueroa, K.P., Rinehart, M.D., Wiest, S., Pflieger, L.T., Scoles, D.R., and Pulst, S.M. (2015). Ataxin-2 regulates RGS8 translation in a new BAC-SCA2 transgenic mouse model. PLoS Genet., 11.","DOI":"10.1371\/journal.pgen.1005182"},{"key":"ref_87","doi-asserted-by":"crossref","unstructured":"van de Poll, F., Sutter, B.M., Acoba, M.G., Caballero, D., Jahangiri, S., Yang, Y.S., Lee, C.D., and Tu, B.P. (2023). Pbp1 associates with Puf3 and promotes translation of its target mRNAs involved in mitochondrial biogenesis. PLoS Genet., 19.","DOI":"10.1371\/journal.pgen.1010774"},{"key":"ref_88","doi-asserted-by":"crossref","unstructured":"Lopez-Juarez, Z.M., Aguilar-Henonin, L., and Guzman, P. (2021). The ATXN2 Orthologs CID3 and CID4, Act Redundantly to In-Fluence Developmental Pathways throughout the Life Cycle of Arabidopsis thaliana. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22063068"},{"key":"ref_89","doi-asserted-by":"crossref","unstructured":"Kaehler, C., Isensee, J., Nonhoff, U., Terrey, M., Hucho, T., Lehrach, H., and Krobitsch, S. (2012). Ataxin-2-like is a regulator of stress granules and processing bodies. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0050134"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.nbd.2016.09.002","article-title":"Search for SCA2 blood RNA biomarkers highlights Ataxin-2 as strong modifier of the mitochondrial factor PINK1 levels","volume":"96","author":"Sen","year":"2016","journal-title":"Neurobiol. Dis."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1016\/j.cell.2018.03.025","article-title":"Stress Granule Assembly Disrupts Nucleocytoplasmic Transport","volume":"173","author":"Zhang","year":"2018","journal-title":"Cell"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"9193","DOI":"10.1093\/nar\/gkae497","article-title":"Concerted action of ataxin-2 and PABPC1-bound mRNA poly(A) tail in the formation of stress granules","volume":"52","author":"Yamagishi","year":"2024","journal-title":"Nucleic Acids Res."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"2346","DOI":"10.1093\/brain\/awac473","article-title":"The stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated deficits","volume":"146","author":"Koppenol","year":"2023","journal-title":"Brain"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"7523","DOI":"10.1038\/s41467-025-62417-2","article-title":"Fbxo42 promotes the degradation of Ataxin-2 granules to trigger terminal Xbp1 signaling","volume":"16","author":"Santos","year":"2025","journal-title":"Nat. Commun."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"103536","DOI":"10.1016\/j.isci.2021.103536","article-title":"Ataxin-2 is essential for cytoskeletal dynamics and neurodevelopment in Drosophila","volume":"25","author":"Norkett","year":"2022","journal-title":"iScience"},{"key":"ref_96","doi-asserted-by":"crossref","unstructured":"Petrauskas, A., Fortunati, D.L., Kandi, A.R., Pothapragada, S.S., Agrawal, K., Singh, A., Huelsmeier, J., Hillebrand, J., Brown, G., and Chaturvedi, D. (2024). Structured and disordered regions of Ataxin-2 contribute differently to the specificity and efficiency of mRNP granule formation. PLoS Genet., 20.","DOI":"10.1371\/journal.pgen.1011251"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"e60326","DOI":"10.7554\/eLife.60326","article-title":"Antagonistic roles for Ataxin-2 structured and disordered domains in RNP condensation","volume":"10","author":"Singh","year":"2021","journal-title":"elife"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"E99","DOI":"10.1073\/pnas.1309543111","article-title":"FMRP and Ataxin-2 function together in long-term olfactory habituation and neuronal translational control","volume":"111","author":"Sudhakaran","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"e200144","DOI":"10.1212\/NXG.0000000000200144","article-title":"Cerebellar Micro-RNA Profile in a Mouse Model of Spinocerebellar Ataxia Type 2","volume":"10","author":"Paul","year":"2024","journal-title":"Neurol. Genet."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"104559","DOI":"10.1016\/j.nbd.2019.104559","article-title":"Generation of an Atxn2-CAG100 knock-in mouse reveals N-acetylaspartate production deficit due to early Nat8l dysregulation","volume":"132","author":"Sen","year":"2019","journal-title":"Neurobiol. Dis."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"105289","DOI":"10.1016\/j.nbd.2021.105289","article-title":"Atxn2-CAG100-KnockIn mouse spinal cord shows progressive TDP43 pathology associated with cholesterol biosynthesis suppression","volume":"152","author":"Sen","year":"2021","journal-title":"Neurobiol. Dis."},{"key":"ref_102","doi-asserted-by":"crossref","unstructured":"Buenaventura, R.G., Harvey, A.C., Burns, M.P., and Main, B.S. (2022). Sequential Isolation of Microglia and Astrocytes from Young and Aged Adult Mouse Brains for Downstream Transcriptomic Analysis. Methods Protoc., 5.","DOI":"10.3390\/mps5050077"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"100255","DOI":"10.1016\/j.crmeth.2022.100255","article-title":"Methods for culturing adult CNS neurons reveal a CNS conditioning effect","volume":"2","author":"Kawaguchi","year":"2022","journal-title":"Cell Rep. Methods"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1038\/s41374-020-0446-z","article-title":"3\u2032 MACE RNA-sequencing allows for transcriptome profiling in human tissue samples after long-term storage","volume":"100","author":"Boneva","year":"2020","journal-title":"Lab. Investig."},{"key":"ref_105","doi-asserted-by":"crossref","unstructured":"Asmann, Y.W., Klee, E.W., Thompson, E.A., Perez, E.A., Middha, S., Oberg, A.L., Therneau, T.M., Smith, D.I., Poland, G.A., and Wieben, E.D. (2009). 3\u2032 tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer. BMC Genomics, 10.","DOI":"10.1186\/1471-2164-10-531"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1111\/j.1365-294X.2012.05756.x","article-title":"Exploring local immunological adaptation of two stickleback ecotypes by experimental infection and transcriptome-wide digital gene expression analysis","volume":"22","author":"Lenz","year":"2013","journal-title":"Mol. Ecol."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"161","DOI":"10.4161\/epi.26931","article-title":"Massive analysis of cDNA Ends (MACE) and miRNA expression profiling identifies proatherogenic pathways in chronic kidney disease","volume":"9","author":"Zawada","year":"2014","journal-title":"Epigenetics"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/j.neuron.2018.03.030","article-title":"Alternative 3\u2032 UTRs Modify the Localization, Regulatory Potential, Stability, and Plasticity of mRNAs in Neuronal Compartments","volume":"98","author":"Tushev","year":"2018","journal-title":"Neuron"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1126\/science.aar4237","article-title":"Evolution of pallium, hippocampus, and cortical cell types revealed by single-cell transcriptomics in reptiles","volume":"360","author":"Tosches","year":"2018","journal-title":"Science"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"102869","DOI":"10.1016\/j.xpro.2024.102869","article-title":"Protocol for the isolation and culture of microglia, astrocytes, and neurons from the same mouse brain","volume":"5","author":"Leites","year":"2024","journal-title":"STAR Protoc."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.tins.2025.11.002","article-title":"Evolving insights into the identity and function of dark microglia","volume":"49","author":"Flury","year":"2026","journal-title":"Trends Neurosci."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1016\/j.tins.2025.06.006","article-title":"Life without microglia","volume":"48","author":"Hume","year":"2025","journal-title":"Trends Neurosci."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/s41593-024-01818-w","article-title":"Microglia as hunters or gatherers of brain synapses","volume":"28","author":"Melero","year":"2025","journal-title":"Nat. Neurosci."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/S1474-4422(18)30490-3","article-title":"The role of astroglia in Alzheimer\u2019s disease: Pathophysiology and clinical implications","volume":"18","author":"Arranz","year":"2019","journal-title":"Lancet Neurol."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1126\/science.aat0473","article-title":"Glia as architects of central nervous system formation and function","volume":"362","author":"Allen","year":"2018","journal-title":"Science"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.jphysparis.2005.12.082","article-title":"Synaptic plasticity, astrocytes and morphological homeostasis","volume":"99","author":"Slezak","year":"2006","journal-title":"J. Physiol. Paris"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"104139","DOI":"10.1016\/j.xpro.2025.104139","article-title":"Protocol to sequentially isolate mouse oligodendrocytes, microglia, endothelial cells, astrocytes, and neurons via magnetic cell sorting","volume":"6","author":"Houmam","year":"2025","journal-title":"STAR Protoc."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"E1896","DOI":"10.1073\/pnas.1800165115","article-title":"Normal aging induces A1-like astrocyte reactivity","volume":"115","author":"Clarke","year":"2018","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_120","doi-asserted-by":"crossref","unstructured":"Frederick, M.J., Perez-Bello, D., Yadollahi, P., Castro, P., Frederick, A., Frederick, A., Osman, R.A., Essien, F., Yebra, I., and Hamlin, A. (2025). Reliable RNA-seq analysis from FFPE specimens as a means to accelerate cancer-related health disparities research. PLoS ONE, 20.","DOI":"10.1371\/journal.pone.0321631"},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1007\/164_2017_48","article-title":"Voltage-Gated Sodium Channel beta Subunits and Their Related Diseases","volume":"246","author":"Bouza","year":"2018","journal-title":"Handb. Exp. Pharmacol."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.brainresbull.2020.05.005","article-title":"Regulation of SPARC family proteins in disorders of the central nervous system","volume":"163","author":"Chen","year":"2020","journal-title":"Brain Res. Bull."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"7970","DOI":"10.1074\/jbc.RA120.012658","article-title":"The F-box protein FBXL16 up-regulates the stability of C-MYC oncoprotein by antagonizing the activity of the F-box protein FBW7","volume":"295","author":"Morel","year":"2020","journal-title":"J. Biol. Chem."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1007\/s10048-019-00587-0","article-title":"Nervous NDRGs: The N-myc downstream-regulated gene family in the central and peripheral nervous system","volume":"20","author":"Schonkeren","year":"2019","journal-title":"Neurogenetics"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1007\/s13760-023-02388-7","article-title":"LncRNA MEG8 ameliorates Parkinson\u2019s disease neuro-inflammation through miR-485-3p\/FBXO45 axis","volume":"124","author":"Lin","year":"2024","journal-title":"Acta Neurol. Belg."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1016\/j.cell.2015.07.003","article-title":"Identification of Genetic Factors that Modify Clinical Onset of Huntington\u2019s Disease","volume":"162","year":"2015","journal-title":"Cell"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"3044","DOI":"10.1093\/hmg\/ddaa196","article-title":"Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington\u2019s disease knock-in mice is blocked by Mlh1 knock-out","volume":"29","author":"Loupe","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1038\/s41593-022-01033-5","article-title":"Exome sequencing of individuals with Huntington\u2019s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset","volume":"25","author":"McAllister","year":"2022","journal-title":"Nat. Neurosci."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1016\/j.molcel.2012.12.009","article-title":"Structural basis of assembly chaperone- mediated snRNP formation","volume":"49","author":"Grimm","year":"2013","journal-title":"Mol. Cell"},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"105028","DOI":"10.1016\/j.nbd.2020.105028","article-title":"Microglia and astrocyte dysfunction in parkinson\u2019s disease","volume":"144","author":"Kam","year":"2020","journal-title":"Neurobiol. Dis."},{"key":"ref_131","first-page":"1736","article-title":"Proteomic analysis of the effect of the polyphenol pentagalloyl glucose on proteins involved in neurodegenerative diseases in activated BV-2 microglial cells","volume":"20","author":"Mendonca","year":"2019","journal-title":"Mol. Med. Rep."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1038\/s41419-023-05737-9","article-title":"Astrocytes express aberrant immunoglobulins as putative gatekeeper of astrocytes to neuronal progenitor conversion","volume":"14","author":"Capuz","year":"2023","journal-title":"Cell Death Dis."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"42559","DOI":"10.1038\/s41598-025-29070-7","article-title":"Multiomics approach identifies SERPINB1 as candidate biomarker for spinocerebellar ataxia type 2","volume":"15","author":"Key","year":"2025","journal-title":"Sci. Rep."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"1658","DOI":"10.1093\/hmg\/ddaa072","article-title":"ALS-associated genes in SCA2 mouse spinal cord transcriptomes","volume":"29","author":"Scoles","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"ref_135","doi-asserted-by":"crossref","unstructured":"Sen, N.E., Arsovic, A., Meierhofer, D., Brodesser, S., Oberschmidt, C., Canet-Pons, J., Kaya, Z.E., Halbach, M.V., Gispert, S., and Sandhoff, K. (2019). In Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism. Int. J. Mol. Sci., 20.","DOI":"10.20944\/preprints201911.0042.v1"},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"3069","DOI":"10.1093\/hmg\/ddx191","article-title":"Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2","volume":"26","author":"Pflieger","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s12311-016-0762-4","article-title":"Atxn2 Knockout and CAG42-Knock-in Cerebellum Shows Similarly Dysregulated Expression in Calcium Homeostasis Pathway","volume":"16","author":"Halbach","year":"2017","journal-title":"Cerebellum"},{"key":"ref_138","doi-asserted-by":"crossref","unstructured":"Halbach, M.V., Stehning, T., Damrath, E., Jendrach, M., Sen, N.E., Basak, A.N., and Auburger, G. (2015). Both ubiquitin ligases FBXW8 and PARK2 are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 expression is dysregulated. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0121089"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"101072","DOI":"10.1016\/j.mcpro.2025.101072","article-title":"Spinal Cord Phosphoproteome of SCA2 Mouse Model Reveals Alteration of ATXN2-N-Term PRM-SH3-Actin Interactome and of Autophagy","volume":"24","author":"Kandi","year":"2025","journal-title":"Mol. Cell. Proteom."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"eabk0637","DOI":"10.1126\/science.abk0637","article-title":"GPNMB confers risk for Parkinson\u2019s disease through interaction with alpha-synuclein","volume":"377","author":"Seo","year":"2022","journal-title":"Science"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1186\/s40478-018-0612-3","article-title":"Glycoprotein NMB: A novel Alzheimer\u2019s disease associated marker expressed in a subset of activated microglia","volume":"6","author":"Huttenrauch","year":"2018","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"9636897241233040","DOI":"10.1177\/09636897241233040","article-title":"GPNMB Modulates Autophagy to Enhance Functional Recovery After Spinal Cord Injury in Rats","volume":"33","author":"Li","year":"2024","journal-title":"Cell Transplant."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"3089","DOI":"10.1038\/s41467-025-58254-y","article-title":"Repair-associated macrophages increase after early-phase microglia attenuation to promote ischemic stroke recovery","volume":"16","author":"Zhang","year":"2025","journal-title":"Nat. Commun."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"2070","DOI":"10.1111\/jnc.15190","article-title":"Exploring the factors underlying remyelination arrest by studying the post-transcriptional regulatory mechanisms of cystatin F gene","volume":"157","author":"Li","year":"2021","journal-title":"J. Neurochem."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"e13018","DOI":"10.1111\/bpa.13018","article-title":"An early proinflammatory transcriptional response to tau pathology is age-specific and foreshadows reduced tau burden","volume":"32","author":"Rasmussen","year":"2022","journal-title":"Brain Pathol."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"2105","DOI":"10.2147\/JIR.S497418","article-title":"Integrating Bulk and Single-Cell Transcriptomic Data to Identify Ferroptosis-Associated Inflammatory Gene in Alzheimer\u2019s Disease","volume":"18","author":"Zhou","year":"2025","journal-title":"J. Inflamm. Res."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1038\/s41590-023-01627-6","article-title":"APOE4 impairs the microglial response in Alzheimer\u2019s disease by inducing TGFbeta-mediated checkpoints","volume":"24","author":"Yin","year":"2023","journal-title":"Nat. Immunol."},{"key":"ref_148","doi-asserted-by":"crossref","unstructured":"Arutyunov, A., Duran-Laforet, V., Ai, S., Ferrari, L., Murphy, R., Schafer, D.P., and Klein, R.S. (2024). West Nile Virus-Induced Expression of Senescent Gene Lgals3bp Regulates Microglial Phenotype within Cerebral Cortex. Biomolecules, 14.","DOI":"10.20944\/preprints202405.2136.v1"},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1126\/science.abf6805","article-title":"A spinal microglia population involved in remitting and relapsing neuropathic pain","volume":"376","author":"Kohno","year":"2022","journal-title":"Science"},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/s41593-023-01257-z","article-title":"Perivascular cells induce microglial phagocytic states and synaptic engulfment via SPP1 in mouse models of Alzheimer\u2019s disease","volume":"26","author":"Ge","year":"2023","journal-title":"Nat. Neurosci."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/s00401-020-02200-3","article-title":"APOE and TREM2 regulate amyloid-responsive microglia in Alzheimer\u2019s disease","volume":"140","author":"Nguyen","year":"2020","journal-title":"Acta Neuropathol."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1038\/s41590-021-00913-5","article-title":"Microglia use TAM receptors to detect and engulf amyloid beta plaques","volume":"22","author":"Huang","year":"2021","journal-title":"Nat. Immunol."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1186\/s40478-019-0757-8","article-title":"Loss of USP18 in microglia induces white matter pathology","volume":"7","author":"Schwabenland","year":"2019","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"2881","DOI":"10.1007\/s11064-023-03945-5","article-title":"Abeta Induces Neuroinflammation and Microglial M1 Polarization via cGAS-STING-IFITM3 Signaling Pathway in BV-2 Cells","volume":"48","author":"Wu","year":"2023","journal-title":"Neurochem. Res."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"6188","DOI":"10.1007\/s12035-023-03480-y","article-title":"Rnf-213 Knockout Induces Pericyte Reduction and Blood-Brain Barrier Impairment in Mouse","volume":"60","author":"Li","year":"2023","journal-title":"Mol. Neurobiol."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"100067","DOI":"10.1016\/j.bbadva.2022.100067","article-title":"The eEF1 family of mammalian translation elongation factors","volume":"3","author":"Negrutskii","year":"2023","journal-title":"BBA Adv."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"6131","DOI":"10.1007\/s11033-021-06585-6","article-title":"Cytoplasmic FMR1 interacting protein (CYFIP) family members and their function in neural development and disorders","volume":"48","author":"Biembengut","year":"2021","journal-title":"Mol. Biol. Rep."},{"key":"ref_158","doi-asserted-by":"crossref","unstructured":"Zhang, S., Zhang, Y., Chen, T., Hu, H.Y., and Lu, C. (2025). The LSmAD Domain of Ataxin-2 Modulates the Structure and RNA Binding of Its Preceding LSm Domain. Cells, 14.","DOI":"10.3390\/cells14050383"},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"3685","DOI":"10.1073\/pnas.071033998","article-title":"The Sm domain is an ancient RNA-binding motif with oligo(U) specificity","volume":"98","author":"Achsel","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"537","DOI":"10.4161\/rna.29144","article-title":"RNA binding by Hfq and ring-forming (L)Sm proteins: A trade-off between optimal sequence readout and RNA backbone conformation","volume":"11","author":"Weichenrieder","year":"2014","journal-title":"RNA Biol."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"gkaf451","DOI":"10.1093\/nar\/gkaf451","article-title":"Interconversion and mechanisms between Lsm-type and Sm-type heteroheptameric rings: Implications for spliceosome evolution and RNA metabolism","volume":"53","author":"Mu","year":"2025","journal-title":"Nucleic Acids Res."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1038\/nature09479","article-title":"U1 snRNP protects pre-mRNAs from premature cleavage and polyadenylation","volume":"468","author":"Kaida","year":"2010","journal-title":"Nature"},{"key":"ref_163","first-page":"2666","article-title":"U1 small nuclear RNAs with altered specificity can be stably expressed in mammalian cells and promote permanent changes in pre-mRNA splicing","volume":"13","author":"Cohen","year":"1993","journal-title":"Mol. Cell. Biol."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"11868","DOI":"10.1038\/s41598-021-91453-3","article-title":"ALS-linked FUS mutants affect the localization of U7 snRNP and replication-dependent histone gene expression in human cells","volume":"11","author":"Gadgil","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"2270","DOI":"10.1111\/cas.70110","article-title":"Diversity of U1 Small Nuclear RNAs and Diagnostic Methods for Their Mutations","volume":"116","author":"Nakashima","year":"2025","journal-title":"Cancer Sci."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1038\/s41586-019-1650-0","article-title":"Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma","volume":"574","author":"Suzuki","year":"2019","journal-title":"Nature"},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"8151","DOI":"10.1016\/S0021-9258(20)82041-9","article-title":"Genes and pseudogenes for mouse U1 and U2 small nuclear RNAs","volume":"258","author":"Nojima","year":"1983","journal-title":"J. Biol. Chem."},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"7775","DOI":"10.1016\/S0021-9258(17)39674-6","article-title":"New U1 RNA species found in Friend SFFV (spleen focus forming virus)-transformed mouse cells","volume":"260","author":"Kato","year":"1985","journal-title":"J. Biol. Chem."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"9811","DOI":"10.1093\/nar\/14.24.9811","article-title":"Functional, developmentally expressed genes for mouse U1a and U1b snRNAs contain both conserved and non-conserved transcription signals","volume":"14","author":"Howard","year":"1986","journal-title":"Nucleic Acids Res."},{"key":"ref_170","first-page":"2580","article-title":"The two embryonic U1 small nuclear RNAs of Xenopus laevis are encoded by a major family of tandemly repeated genes","volume":"4","author":"Lund","year":"1984","journal-title":"Mol. Cell. Biol."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"6255","DOI":"10.1093\/nar\/11.18.6255","article-title":"Isolation and characterization of two linked mouse U1b small nuclear RNA genes","volume":"11","author":"Marzluff","year":"1983","journal-title":"Nucleic Acids Res."},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1126\/science.2412294","article-title":"Differential control of U1 small nuclear RNA expression during mouse development","volume":"229","author":"Lund","year":"1985","journal-title":"Science"},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1016\/0092-8674(84)90263-0","article-title":"Differential expression of multiple U1 small nuclear RNAs in oocytes and embryos of Xenopus laevis","volume":"38","author":"Forbes","year":"1984","journal-title":"Cell"},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1101\/gad.1.1.39","article-title":"Differential accumulation of U1 and U4 small nuclear RNAs during Xenopus development","volume":"1","author":"Lund","year":"1987","journal-title":"Genes Dev."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"11655","DOI":"10.1073\/pnas.0704977104","article-title":"U bodies are cytoplasmic structures that contain uridine-rich small nuclear ribonucleoproteins and associate with P bodies","volume":"104","author":"Liu","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"2835","DOI":"10.1016\/j.yexcr.2011.09.001","article-title":"U bodies respond to nutrient stress in Drosophila","volume":"317","author":"Buckingham","year":"2011","journal-title":"Exp. Cell Res."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"20904","DOI":"10.1074\/jbc.M115.659466","article-title":"Intracellular Bacterial Pathogens Trigger the Formation of U Small Nuclear RNA Bodies (U Bodies) through Metabolic Stress Induction","volume":"290","author":"Tsalikis","year":"2015","journal-title":"J. Biol. Chem."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.ydbio.2009.05.553","article-title":"The spinal muscular atrophy protein SMN affects Drosophila germline nuclear organization through the U body-P body pathway","volume":"332","author":"Lee","year":"2009","journal-title":"Dev. Biol."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"6482","DOI":"10.1093\/nar\/gkn658","article-title":"The assembly of a spliceosomal small nuclear ribonucleoprotein particle","volume":"36","author":"Patel","year":"2008","journal-title":"Nucleic Acids Res."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/0092-8674(90)90021-6","article-title":"The trimethylguanosine cap structure of U1 snRNA is a component of a bipartite nuclear targeting signal","volume":"62","author":"Hamm","year":"1990","journal-title":"Cell"},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"7019","DOI":"10.1093\/jxb\/erv399","article-title":"Spatial regulation of cytoplasmic snRNP assembly at the cellular level","volume":"66","author":"Hyjek","year":"2015","journal-title":"J. Exp. Bot."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1083\/jcb.200304128","article-title":"Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons","volume":"163","author":"Rossoll","year":"2003","journal-title":"J. Cell Biol."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.molmed.2006.01.005","article-title":"Spinal muscular atrophy: The RNP connection","volume":"12","author":"Eggert","year":"2006","journal-title":"Trends Mol. Med."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"5598","DOI":"10.1074\/jbc.M707304200","article-title":"In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein","volume":"283","author":"Piazzon","year":"2008","journal-title":"J. Biol. Chem."},{"key":"ref_185","doi-asserted-by":"crossref","unstructured":"Baumer, D., Lee, S., Nicholson, G., Davies, J.L., Parkinson, N.J., Murray, L.M., Gillingwater, T.H., Ansorge, O., Davies, K.E., and Talbot, K. (2009). Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet., 5.","DOI":"10.1371\/journal.pgen.1000773"},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.nbd.2017.08.004","article-title":"Cellular bases of the RNA metabolism dysfunction in motor neurons of a murine model of spinal muscular atrophy: Role of Cajal bodies and the nucleolus","volume":"108","author":"Tapia","year":"2017","journal-title":"Neurobiol. Dis."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.brainres.2018.02.022","article-title":"Spinal muscular atrophy: Selective motor neuron loss and global defect in the assembly of ribonucleoproteins","volume":"1693","author":"Beattie","year":"2018","journal-title":"Brain Res."},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1093\/jnen\/nlac032","article-title":"Parallel Appearance of Polyglutamine and Transactivation-Responsive DNA-Binding Protein 43 and Their Complementary Subcellular Localization in Brains of Patients With Spinocerebellar Ataxia Type 2","volume":"81","author":"Koyano","year":"2022","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1001\/archneur.61.2.257","article-title":"Peripheral nerve involvement in spinocerebellar ataxias","volume":"61","author":"Notermans","year":"2004","journal-title":"Arch. Neurol."},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"2141","DOI":"10.1093\/brain\/120.12.2141","article-title":"Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3","volume":"120","author":"Abele","year":"1997","journal-title":"Brain"},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"4769","DOI":"10.4049\/jimmunol.1103355","article-title":"U1-small nuclear ribonucleoprotein activates the NLRP3 inflammasome in human monocytes","volume":"188","author":"Shin","year":"2012","journal-title":"J. Immunol."},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1177\/0961203310387180","article-title":"Epitope mapping of the U1 small nuclear ribonucleoprotein particle in patients with systemic lupus erythematosus and mixed connective tissue disease","volume":"20","author":"Somarelli","year":"2011","journal-title":"Lupus"},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"3730","DOI":"10.1002\/art.27700","article-title":"Anti-U1 RNP antibodies in cerebrospinal fluid are associated with central neuropsychiatric manifestations in systemic lupus erythematosus and mixed connective tissue disease","volume":"62","author":"Sato","year":"2010","journal-title":"Arthritis Rheum."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1038\/s41375-025-02667-7","article-title":"Disease-specific U1 spliceosomal RNA mutations in mature B-cell neoplasms","volume":"39","author":"Nadeu","year":"2025","journal-title":"Leukemia"},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1080\/01677063.2017.1395425","article-title":"Overexpression of U1 snRNA induces decrease of U1 spliceosome function associated with Alzheimer\u2019s disease","volume":"31","author":"Cheng","year":"2017","journal-title":"J. Neurogenet."},{"key":"ref_196","doi-asserted-by":"crossref","unstructured":"Dong, X., Ding, S., Yu, M., Niu, L., Xue, L., Zhao, Y., Xie, L., Song, X., and Song, X. (2020). Small Nuclear RNAs (U1, U2, U5) in Tumor-Educated Platelets Are Downregulated and Act as Promising Biomarkers in Lung Cancer. Front. Oncol., 10.","DOI":"10.3389\/fonc.2020.01627"},{"key":"ref_197","doi-asserted-by":"crossref","unstructured":"Pigini, P., Giorgi, F.M., and Wee, K.B. (2025). Utargetome: A targetome prediction tool for modified U1-snRNAs to identify distal-target positions with improved selectivity. PLoS Comput. Biol., 21.","DOI":"10.1371\/journal.pcbi.1013534"},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1186\/s10020-025-01176-8","article-title":"Rescue of a panel of Hemophilia A-causing 5\u2032ss splicing mutations by unique Exon-specific U1snRNA variants","volume":"31","author":"Peretto","year":"2025","journal-title":"Mol. Med."},{"key":"ref_199","doi-asserted-by":"crossref","unstructured":"Goncalves, M., Santos, J.I., Coutinho, M.F., Matos, L., and Alves, S. (2023). Development of Engineered-U1 snRNA Therapies: Current Status. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms241914617"},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"1534","DOI":"10.1016\/j.ajhg.2022.07.004","article-title":"Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA","volume":"109","author":"Romano","year":"2022","journal-title":"Am. J. Hum. Genet."},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.ymeth.2022.06.008","article-title":"Engineered U1 snRNAs to modulate alternatively spliced exons","volume":"205","author":"Hatch","year":"2022","journal-title":"Methods"},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"2143","DOI":"10.1002\/humu.24116","article-title":"Rescue of common exon-skipping mutations in cystic fibrosis with modified U1 snRNAs","volume":"41","author":"Donega","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.omtn.2019.08.014","article-title":"Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation","volume":"18","author":"Breuel","year":"2019","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"11168","DOI":"10.1038\/ncomms11168","article-title":"Therapeutic activity of modified U1 core spliceosomal particles","volume":"7","author":"Rogalska","year":"2016","journal-title":"Nat. Commun."},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"1418","DOI":"10.1261\/rna.55406","article-title":"The network of protein-protein interactions within the human U4\/U6.U5 tri-snRNP","volume":"12","author":"Liu","year":"2006","journal-title":"RNA"},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1016\/j.cell.2017.04.033","article-title":"An Atomic Structure of the Human Spliceosome","volume":"169","author":"Zhang","year":"2017","journal-title":"Cell"},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/cr.2018.14","article-title":"Structure of the human activated spliceosome in three conformational states","volume":"28","author":"Zhang","year":"2018","journal-title":"Cell Res."},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"3452","DOI":"10.1016\/j.neuron.2024.07.020","article-title":"Spliceosomal GTPase Eftud2 deficiency-triggered ferroptosis leads to Purkinje cell degeneration","volume":"112","author":"Yang","year":"2024","journal-title":"Neuron"},{"key":"ref_209","doi-asserted-by":"crossref","unstructured":"Park, B.Y., Tachi-Duprat, M., Ihewulezi, C., Devotta, A., and Saint-Jeannet, J.P. (2022). The Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development. J. Dev. Biol., 10.","DOI":"10.3390\/jdb10030029"},{"key":"ref_210","doi-asserted-by":"crossref","unstructured":"Boudreault, S., Lemay, G., and Bisaillon, M. (2022). U5 snRNP Core Proteins Are Key Components of the Defense Response against Viral Infection through Their Roles in Programmed Cell Death and Interferon Induction. Viruses, 14.","DOI":"10.3390\/v14122710"},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1534\/genetics.113.160499","article-title":"Comparative genomics RNAi screen identifies Eftud2 as a novel regulator of innate immunity","volume":"197","author":"Laws","year":"2014","journal-title":"Genetics"},{"key":"ref_212","doi-asserted-by":"crossref","first-page":"3493","DOI":"10.1007\/s00018-012-1034-1","article-title":"Nesprin interchain associations control nuclear size","volume":"69","author":"Lu","year":"2012","journal-title":"Cell. Mol. Life Sci."},{"key":"ref_213","doi-asserted-by":"crossref","first-page":"4068","DOI":"10.1038\/s41467-025-59371-4","article-title":"O-GlcNAcylation reduces proteome solubility and regulates the formation of biomolecular condensates in human cells","volume":"16","author":"Xu","year":"2025","journal-title":"Nat. Commun."},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1242\/dev.02783","article-title":"Syne-1 and Syne-2 play crucial roles in myonuclear anchorage and motor neuron innervation","volume":"134","author":"Zhang","year":"2007","journal-title":"Development"},{"key":"ref_215","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1093\/hmg\/ddq549","article-title":"KASH protein Syne-2\/Nesprin-2 and SUN proteins SUN1\/2 mediate nuclear migration during mammalian retinal development","volume":"20","author":"Yu","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_216","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.1242\/jcs.019075","article-title":"Nesprin-2 Giant (NUANCE) maintains nuclear envelope architecture and composition in skin","volume":"121","author":"Luke","year":"2008","journal-title":"J. Cell Sci."},{"key":"ref_217","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1242\/jcs.01642","article-title":"Nesprin-2 is a multi-isomeric protein that binds lamin and emerin at the nuclear envelope and forms a subcellular network in skeletal muscle","volume":"118","author":"Zhang","year":"2005","journal-title":"J. Cell Sci."},{"key":"ref_218","doi-asserted-by":"crossref","first-page":"2716","DOI":"10.1242\/jcs.043794","article-title":"Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton","volume":"122","author":"Dawe","year":"2009","journal-title":"J. Cell Sci."},{"key":"ref_219","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.neuron.2009.08.018","article-title":"SUN1\/2 and Syne\/Nesprin-1\/2 complexes connect centrosome to the nucleus during neurogenesis and neuronal migration in mice","volume":"64","author":"Zhang","year":"2009","journal-title":"Neuron"},{"key":"ref_220","doi-asserted-by":"crossref","first-page":"1378","DOI":"10.1093\/brain\/aww079","article-title":"SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: A large multi-centre study","volume":"139","author":"Synofzik","year":"2016","journal-title":"Brain"},{"key":"ref_221","doi-asserted-by":"crossref","first-page":"e200306","DOI":"10.1212\/NXG.0000000000200306","article-title":"SYNE1 Deficiency Manifesting Primarily With Motor Neuron Disease","volume":"11","author":"Senghor","year":"2025","journal-title":"Neurol. Genet."},{"key":"ref_222","doi-asserted-by":"crossref","first-page":"1618","DOI":"10.1523\/JNEUROSCI.0852-21.2021","article-title":"FMRP Sustains Presynaptic Function via Control of Activity-Dependent Bulk Endocytosis","volume":"42","author":"Bonnycastle","year":"2022","journal-title":"J. Neurosci."},{"key":"ref_223","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1006\/bbrc.2000.4035","article-title":"Identification of mouse YB1\/p50 as a component of the FMRP-associated mRNP particle","volume":"279","author":"Ceman","year":"2000","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_224","doi-asserted-by":"crossref","first-page":"eadv3140","DOI":"10.1126\/sciadv.adv3140","article-title":"Neuronal potassium channel activity triggers initiation of mRNA translation through binding of translation regulators","volume":"11","author":"Malone","year":"2025","journal-title":"Sci. Adv."},{"key":"ref_225","doi-asserted-by":"crossref","first-page":"304","DOI":"10.5483\/BMBRep.2019.52.5.097","article-title":"Neuronal function and dysfunction of CYFIP2: From actin dynamics to early infantile epileptic encephalopathy","volume":"52","author":"Zhang","year":"2019","journal-title":"BMB Rep."},{"key":"ref_226","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1016\/j.neuron.2018.01.027","article-title":"Axon-Axon Interactions Regulate Topographic Optic Tract Sorting via CYFIP2-Dependent WAVE Complex Function","volume":"97","author":"Cioni","year":"2018","journal-title":"Neuron"},{"key":"ref_227","doi-asserted-by":"crossref","first-page":"eaan0665","DOI":"10.1126\/scisignal.aan0665","article-title":"Reducing eIF4E-eIF4G interactions restores the balance between protein synthesis and actin dynamics in fragile X syndrome model mice","volume":"10","author":"Santini","year":"2017","journal-title":"Sci. Signal."},{"key":"ref_228","doi-asserted-by":"crossref","first-page":"2557","DOI":"10.1093\/hmg\/8.13.2557","article-title":"A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein","volume":"8","author":"Bardoni","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"ref_229","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/S0014-4827(03)00222-2","article-title":"NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes","volume":"289","author":"Bardoni","year":"2003","journal-title":"Exp. Cell Res."},{"key":"ref_230","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1111\/febs.15443","article-title":"Novel FMRP interaction networks linked to cellular stress","volume":"288","author":"Taha","year":"2021","journal-title":"FEBS J."},{"key":"ref_231","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1080\/15548627.2022.2148900","article-title":"Membrane Atg8ylation, stress granule formation, and MTOR regulation during lysosomal damage","volume":"19","author":"Jia","year":"2023","journal-title":"Autophagy"},{"key":"ref_232","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.str.2005.09.018","article-title":"The structure of the N-terminal domain of the fragile X mental retardation protein: A platform for protein-protein interaction","volume":"14","author":"Ramos","year":"2006","journal-title":"Structure"},{"key":"ref_233","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.1093\/hmg\/ddg181","article-title":"82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization","volume":"12","author":"Bardoni","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_234","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.ydbio.2015.12.008","article-title":"Zfrp8 forms a complex with fragile-X mental retardation protein and regulates its localization and function","volume":"410","author":"Tan","year":"2016","journal-title":"Dev. Biol."},{"key":"ref_235","doi-asserted-by":"crossref","first-page":"8844","DOI":"10.1073\/pnas.151231598","article-title":"A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P","volume":"98","author":"Schenck","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_236","first-page":"463","article-title":"New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes","volume":"10","author":"Abekhoukh","year":"2017","journal-title":"Dis. Model. Mech."},{"key":"ref_237","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/s41583-021-00432-0","article-title":"The molecular biology of FMRP: New insights into fragile X syndrome","volume":"22","author":"Richter","year":"2021","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_238","doi-asserted-by":"crossref","first-page":"106084","DOI":"10.1016\/j.neuint.2025.106084","article-title":"Functional impact of CYFIP2 RNA editing on actin regulation, axon growth, and spinogenesis","volume":"191","author":"Ndoj","year":"2025","journal-title":"Neurochem. Int."},{"key":"ref_239","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1016\/j.biopsych.2021.04.023","article-title":"CYFIP1 Dosages Exhibit Divergent Behavioral Impact via Diametric Regulation of NMDA Receptor Complex Translation in Mouse Models of Psychiatric Disorders","volume":"92","author":"Kim","year":"2022","journal-title":"Biol. Psychiatry"},{"key":"ref_240","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1007\/s00401-016-1603-8","article-title":"Co-regulation of mRNA translation by TDP-43 and Fragile X Syndrome protein FMRP","volume":"132","author":"Majumder","year":"2016","journal-title":"Acta Neuropathol."},{"key":"ref_241","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1002\/pro.2708","article-title":"A unique binding mode of the eukaryotic translation initiation factor 4E for guiding the design of novel peptide inhibitors","volume":"24","author":"Tancredi","year":"2015","journal-title":"Protein Sci."},{"key":"ref_242","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1523\/JNEUROSCI.2641-14.2015","article-title":"BDNF stimulation of protein synthesis in cortical neurons requires the MAP kinase-interacting kinase MNK1","volume":"35","author":"Genheden","year":"2015","journal-title":"J. Neurosci."},{"key":"ref_243","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1038\/mp.2014.124","article-title":"Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR","volume":"20","author":"Rosensweig","year":"2015","journal-title":"Mol. Psychiatry"},{"key":"ref_244","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1016\/j.neuron.2013.06.039","article-title":"CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation","volume":"79","author":"Pasciuto","year":"2013","journal-title":"Neuron"},{"key":"ref_245","doi-asserted-by":"crossref","unstructured":"Bozdagi, O., Sakurai, T., Dorr, N., Pilorge, M., Takahashi, N., and Buxbaum, J.D. (2012). Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0042422"},{"key":"ref_246","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1016\/j.cell.2008.07.031","article-title":"The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP","volume":"134","author":"Napoli","year":"2008","journal-title":"Cell"},{"key":"ref_247","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1016\/S0896-6273(03)00354-4","article-title":"CYFIP\/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein","volume":"38","author":"Schenck","year":"2003","journal-title":"Neuron"},{"key":"ref_248","doi-asserted-by":"crossref","unstructured":"Stubenvoll, M.D., Medley, J.C., Irwin, M., and Song, M.H. (2016). ATX-2, the C. elegans Ortholog of Human Ataxin-2, Regulates Centrosome Size and Microtubule Dynamics. PLoS Genet., 12.","DOI":"10.1371\/journal.pgen.1006519"},{"key":"ref_249","first-page":"870","article-title":"Ataxin-2 Dysregulation Triggers a Compensatory Fragile X Mental Retardation Protein Decrease in Drosophila C4da Neurons","volume":"43","author":"Cha","year":"2020","journal-title":"Mol. Cells"},{"key":"ref_250","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1038\/ng1728","article-title":"Spectrin mutations cause spinocerebellar ataxia type 5","volume":"38","author":"Ikeda","year":"2006","journal-title":"Nat. Genet."},{"key":"ref_251","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/B978-0-444-51892-7.00028-0","article-title":"Spinocerebellar ataxia type 5","volume":"103","author":"Dick","year":"2012","journal-title":"Handb. Clin. Neurol."},{"key":"ref_252","doi-asserted-by":"crossref","first-page":"2494","DOI":"10.1002\/ajmg.a.38332","article-title":"Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain","volume":"173","author":"Afzal","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_253","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/cge.13562","article-title":"Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia","volume":"96","author":"Nicita","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_254","first-page":"4448","article-title":"Posterior cerebellar Purkinje cells in an SCA5\/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of beta-III spectrin and GLAST","volume":"25","author":"Perkins","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_255","doi-asserted-by":"crossref","first-page":"9891","DOI":"10.1523\/JNEUROSCI.0876-14.2014","article-title":"Mutant beta-III spectrin causes mGluR1alpha mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5","volume":"34","author":"Armbrust","year":"2014","journal-title":"J. Neurosci."},{"key":"ref_256","doi-asserted-by":"crossref","first-page":"37136","DOI":"10.1038\/srep37136","article-title":"Periodic F-actin structures shape the neck of dendritic spines","volume":"6","author":"Bar","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_257","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1083\/jcb.200607036","article-title":"A postsynaptic spectrin scaffold defines active zone size, spacing, and efficacy at the Drosophila neuromuscular junction","volume":"175","author":"Pielage","year":"2006","journal-title":"J. Cell Biol."},{"key":"ref_258","doi-asserted-by":"crossref","first-page":"110350","DOI":"10.1016\/j.jbc.2025.110350","article-title":"Molecular consequences of SCA5 mutations in the spectrin-repeat domains of beta-III-spectrin","volume":"301","author":"Denha","year":"2025","journal-title":"J. Biol. Chem."},{"key":"ref_259","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.1074\/jbc.M112.406462","article-title":"betaIII spectrin regulates the structural integrity and the secretory protein transport of the Golgi complex","volume":"288","author":"Granell","year":"2013","journal-title":"J. Biol. Chem."},{"key":"ref_260","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1083\/jcb.200905158","article-title":"Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila","volume":"189","author":"Lorenzo","year":"2010","journal-title":"J. Cell Biol."},{"key":"ref_261","doi-asserted-by":"crossref","first-page":"4661","DOI":"10.1113\/JP271195","article-title":"Cerebellar ataxias: Beta-III spectrin\u2019s interactions suggest common pathogenic pathways","volume":"594","author":"Perkins","year":"2016","journal-title":"J. Physiol."},{"key":"ref_262","doi-asserted-by":"crossref","first-page":"16581","DOI":"10.1523\/JNEUROSCI.3332-11.2011","article-title":"beta-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis","volume":"31","author":"Gao","year":"2011","journal-title":"J. Neurosci."},{"key":"ref_263","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1016\/j.bbamem.2013.05.002","article-title":"Spectrins: A structural platform for stabilization and activation of membrane channels, receptors and transporters","volume":"1838","author":"Machnicka","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_264","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1242\/dev.02758","article-title":"Distinct functions of alpha-Spectrin and beta-Spectrin during axonal pathfinding","volume":"134","author":"Hulsmeier","year":"2007","journal-title":"Development"},{"key":"ref_265","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1093\/biolre\/ioaf057","article-title":"Diverse roles of stress-responsive RNP granules in oogenesis and infertility","volume":"112","author":"Glineburg","year":"2025","journal-title":"Biol. Reprod."},{"key":"ref_266","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1111\/tra.12669","article-title":"Cellular stress leads to the formation of membraneless stress assemblies in eukaryotic cells","volume":"20","author":"Rabouille","year":"2019","journal-title":"Traffic"},{"key":"ref_267","doi-asserted-by":"crossref","first-page":"4737","DOI":"10.1016\/j.cell.2023.09.006","article-title":"Formation, function, and pathology of RNP granules","volume":"186","author":"Ripin","year":"2023","journal-title":"Cell"},{"key":"ref_268","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1046\/j.1365-2990.2003.00504.x","article-title":"Anatomically based guidelines for systematic investigation of the central somatosensory system and their application to a spinocerebellar ataxia type 2 (SCA2) patient","volume":"29","author":"Rub","year":"2003","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"ref_269","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1016\/S1388-2457(99)00305-3","article-title":"Central motor conduction to lower limb after transcranial magnetic stimulation in spinocerebellar ataxia type 2 (SCA2)","volume":"111","author":"Restivo","year":"2000","journal-title":"Clin. Neurophysiol."},{"key":"ref_270","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1111\/ane.13359","article-title":"In vivo microstructural white matter changes in early spinocerebellar ataxia 2","volume":"143","author":"Stezin","year":"2021","journal-title":"Acta Neurol. Scand."},{"key":"ref_271","doi-asserted-by":"crossref","first-page":"2713","DOI":"10.1016\/j.clinph.2016.05.003","article-title":"Abnormal corticospinal tract function and motor cortex excitability in non-ataxic SCA2 mutation carriers: A TMS study","volume":"127","author":"Auburger","year":"2016","journal-title":"Clin. Neurophysiol."},{"key":"ref_272","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/j.clinph.2018.01.066","article-title":"Progression of corticospinal tract dysfunction in pre-ataxic spinocerebellar ataxia type 2: A two-years follow-up TMS study","volume":"129","author":"Auburger","year":"2018","journal-title":"Clin. Neurophysiol."},{"key":"ref_273","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1212\/WNL.0b013e31822e5627","article-title":"Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms","volume":"77","author":"Paciorkowski","year":"2011","journal-title":"Neurology"},{"key":"ref_274","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1042\/BCJ20230096","article-title":"Pseudouridylation-mediated gene expression modulation","volume":"481","author":"Chen","year":"2024","journal-title":"Biochem. J."},{"key":"ref_275","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1146\/annurev-genet-112618-043830","article-title":"Regulation and Function of RNA Pseudouridylation in Human Cells","volume":"54","author":"Borchardt","year":"2020","journal-title":"Annu. Rev. Genet."},{"key":"ref_276","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1038\/s41580-025-00852-1","article-title":"Functions and therapeutic applications of pseudouridylation","volume":"26","author":"Luo","year":"2025","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_277","doi-asserted-by":"crossref","first-page":"1416","DOI":"10.1038\/mt.2015.138","article-title":"mRNA: Fulfilling the Promise of Gene Therapy","volume":"23","author":"Weissman","year":"2015","journal-title":"Mol. Ther."},{"key":"ref_278","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/978-1-62703-260-5_3","article-title":"HPLC purification of in vitro transcribed long RNA","volume":"969","author":"Weissman","year":"2013","journal-title":"Methods Mol. Biol."},{"key":"ref_279","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/nature22038","article-title":"Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice","volume":"544","author":"Becker","year":"2017","journal-title":"Nature"}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/15\/8\/699\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:52:50Z","timestamp":1777459970000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/15\/8\/699"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,15]]},"references-count":279,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2026,4]]}},"alternative-id":["cells15080699"],"URL":"https:\/\/doi.org\/10.3390\/cells15080699","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,15]]}}}