{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T16:28:24Z","timestamp":1754152104975,"version":"3.41.2"},"reference-count":60,"publisher":"Oxford University Press (OUP)","issue":"15","license":[{"start":{"date-parts":[[2025,5,22]],"date-time":"2025-05-22T00:00:00Z","timestamp":1747872000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005416","name":"Research Council of Norway","doi-asserted-by":"publisher","award":["#187615","#96782"],"award-info":[{"award-number":["#187615","#96782"]}],"id":[{"id":"10.13039\/501100005416","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010135","name":"Finska L\u00e4kares\u00e4llskapet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010135","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,7,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Malformations of cortical development (MCDs) encompass a diverse group of genetic and clinical disorders. Here, we aimed to determine a genetic etiology for two siblings manifesting MCD, microcephaly, epilepsy, intellectual disability, and susceptibility to infections. A missense variant (NM_018084:c.929A\u2009&amp;gt;\u2009C, p.Asp310Ala) and an intragenic deletion (exons 14\u201316) in CCDC88A were identified as compound heterozygous in patients by genome sequencing. Truncating homozygous CCDC88A variants are known to cause an ultra-rare syndrome manifesting with MCD, microcephaly, seizures, and severe neurological impairment. CCDC88A encodes girdin, which is essential for various cell functions, such as actin remodeling and cell proliferation. Western blot analysis showed that the missense variant allele was expressed in fibroblasts at a level compatible with a heterozygous allele, whereas a truncated protein from the deletion allele was barely detectable. Proliferation and wound-healing assays revealed that girdin-deficient fibroblasts proliferated faster and migrated slower than controls. High-content imaging highlighted girdin-deficient fibroblasts as smaller and their actin remodeling disrupted, leading to perinuclear accumulation of endolysosomal organelles. To confirm these cellular phenotypes resulted from girdin loss, CRISPR-Cas9 edited knockout models of healthy fibroblasts were created, replicating the observations in patient cells. Additionally, the siblings exhibited reduced monocytoid and plasmacytoid dendritic cells, suggesting compromised immunity due to girdin deficiency. In summary, the study describes the first case of a CCDC88A missense variant and intragenic deletion associated with MCD. It demonstrates altered immunity and girdin-related cellular changes, such as cell morphology and proliferation-migration dichotomy, in patient and knockout fibroblasts, reinforcing the pathogenic relevance of these variants.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf081","type":"journal-article","created":{"date-parts":[[2025,5,22]],"date-time":"2025-05-22T05:16:49Z","timestamp":1747891009000},"page":"1294-1312","source":"Crossref","is-referenced-by-count":0,"title":["Genome sequencing reveals <i>CCDC88A<\/i> variants in malformations of cortical development and immune dysfunction"],"prefix":"10.1093","volume":"34","author":[{"given":"Johanna","family":"Lehtonen","sequence":"first","affiliation":[{"name":"Centre for Molecular Medicine Norway (NCMM), University of Oslo , Oslo Science Park, Gaustadall\u00e9en 2, Oslo 0349,","place":["Norway"]},{"name":"Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki , Biomedicum 2, Tukholmankatu 8, Helsinki 00290,","place":["Finland"]},{"name":"Folkh\u00e4lsan Research Center , Biomedicum 1, Haartmaninkatu 8, Helsinki 00290,","place":["Finland"]},{"name":"Department of Medical Genetics, Oslo University Hospital , Building 25, Kirkeveien 166 (Ullev\u00e5l), Oslo 0450,","place":["Norway"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna H","family":"Hakonen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki , Topeliuksenkatu 32, Helsinki 00290,","place":["Finland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antti","family":"Hassinen","sequence":"additional","affiliation":[{"name":"Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki , Biomedicum 2, Tukholmankatu 8, Helsinki 00290,","place":["Finland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanne Iversen","family":"Lur\u00e5s","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine Norway (NCMM), University of Oslo , Oslo Science Park, Gaustadall\u00e9en 2, Oslo 0349,","place":["Norway"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meri","family":"Kaustio","sequence":"additional","affiliation":[{"name":"Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki , Biomedicum 2, Tukholmankatu 8, Helsinki 00290,","place":["Finland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virpi","family":"Glumoff","sequence":"additional","affiliation":[{"name":"Medical Research Laboratory Unit, Faculty of Medicine, University of Oulu , Pentti Kaiteran katu 1, Oulu 90570,","place":["Finland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisca","family":"Hinrichsen","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine Norway (NCMM), University of Oslo , Oslo Science Park, Gaustadall\u00e9en 2, Oslo 0349,","place":["Norway"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiwei","family":"Li","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine Norway (NCMM), University of Oslo , Oslo Science Park, Gaustadall\u00e9en 2, Oslo 0349,","place":["Norway"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna-Maija","family":"Sulonen","sequence":"additional","affiliation":[{"name":"Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki , Biomedicum 2, Tukholmankatu 8, Helsinki 00290,","place":["Finland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanna","family":"Wickman","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Hyvink\u00e4\u00e4 Hospital , Helsinki and Uusimaa Hospital District, Sairaalankatu 1, Hyvink\u00e4\u00e4 05850,","place":["Finland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henrikki","family":"Almusa","sequence":"additional","affiliation":[{"name":"Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki , Biomedicum 2, Tukholmankatu 8, Helsinki 00290,","place":["Finland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minttu","family":"Polso","sequence":"additional","affiliation":[{"name":"Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki , Biomedicum 2, Tukholmankatu 8, Helsinki 00290,","place":["Finland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maarit","family":"Palom\u00e4ki","sequence":"additional","affiliation":[{"name":"Department of Radiology, Helsinki University Hospital , Stenb\u00e4ckinkatu 9, Helsinki 00290,","place":["Finland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sirpa","family":"Kivirikko","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki , Topeliuksenkatu 32, Helsinki 00290,","place":["Finland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristiina","family":"Avela","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki , Topeliuksenkatu 32, Helsinki 00290,","place":["Finland"]},{"name":"Turku University Hospital, University of Turku , Kiinamyllynkatu 4-8, Turku 20520,","place":["Finland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaarina","family":"Heiskanen","sequence":"additional","affiliation":[{"name":"New Children\u2019s Hospital, HUS, Helsinki University Hospital and University of Helsinki , Stenb\u00e4ckinkatu 9, Helsinki 00290,","place":["Finland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vilja","family":"Pieti\u00e4inen","sequence":"additional","affiliation":[{"name":"Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki , Biomedicum 2, Tukholmankatu 8, Helsinki 00290,","place":["Finland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristiina","family":"Aittom\u00e4ki","sequence":"additional","affiliation":[{"name":"Department of Medical and Clinical Genetics, University of Helsinki , Fabianinkatu 33, Helsinki 00100,","place":["Finland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janna","family":"Saarela","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine Norway (NCMM), University of Oslo , Oslo Science Park, Gaustadall\u00e9en 2, Oslo 0349,","place":["Norway"]},{"name":"Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki , Biomedicum 2, Tukholmankatu 8, Helsinki 00290,","place":["Finland"]},{"name":"Department of Medical Genetics, Oslo University Hospital , Building 25, Kirkeveien 166 (Ullev\u00e5l), Oslo 0450,","place":["Norway"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,5,22]]},"reference":[{"key":"2025072110122636000_ref1","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/j.devcel.2005.08.001","article-title":"Akt\/PKB regulates actin organization and cell motility via girdin\/APE","volume":"9","author":"Enomoto","year":"2005","journal-title":"Dev Cell"},{"key":"2025072110122636000_ref2","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1111\/j.1600-0854.2005.00289.x","article-title":"A novel hook-related protein family and the characterization of hook-related protein 1","volume":"6","author":"Simpson","year":"2005","journal-title":"Traffic"},{"key":"2025072110122636000_ref3","doi-asserted-by":"crossref","first-page":"22012","DOI":"10.1074\/jbc.M501833200","article-title":"Identification and characterization of GIV, a novel G\u03b1i\/s- interacting protein found on COPI, endoplasmic reticulum-Golgi transport vesicles","volume":"280","author":"Le-Niculescu","year":"2005","journal-title":"J Biol Chem"},{"key":"2025072110122636000_ref4","doi-asserted-by":"crossref","first-page":"18525","DOI":"10.1074\/jbc.M500586200","article-title":"A novel protein kinase B (PKB)\/AKT-binding protein enhances PKB kinase activity and regulates DNA synthesis","volume":"280","author":"Anai","year":"2005","journal-title":"J Biol Chem"},{"key":"2025072110122636000_ref5","doi-asserted-by":"crossref","first-page":"237","DOI":"10.4161\/cam.5.3.15909","article-title":"GIV\/girdin is a rheostat that fine-tunes growth factor signals during tumor progression","volume":"5","author":"Ghosh","year":"2011","journal-title":"Cell Adhes Migr"},{"key":"2025072110122636000_ref6","doi-asserted-by":"crossref","first-page":"100493","DOI":"10.1016\/j.jbc.2021.100493","article-title":"A long isoform of GIV\/Girdin contains a PDZ-binding module that regulates localization and G-protein binding","volume":"296","author":"Ear","year":"2021","journal-title":"J Biol Chem"},{"key":"2025072110122636000_ref7","doi-asserted-by":"crossref","first-page":"2098","DOI":"10.15252\/embj.201488289","article-title":"Regulation of cargo-selective endocytosis by dynamin 2 GTP ase-activating protein girdin","volume":"33","author":"Weng","year":"2014","journal-title":"EMBO J"},{"key":"2025072110122636000_ref8","doi-asserted-by":"crossref","first-page":"101246","DOI":"10.1016\/j.isci.2020.101246","article-title":"GIV\/Girdin and Exo70 collaboratively regulate the mammalian polarized Exocytic machinery","volume":"23","author":"Rohena","year":"2020","journal-title":"iScience"},{"key":"2025072110122636000_ref9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pone.0036681","article-title":"Involvement of Girdin in the determination of cell polarity during cell migration","volume":"7","author":"Ohara","year":"2012","journal-title":"PLoS One"},{"key":"2025072110122636000_ref10","doi-asserted-by":"crossref","first-page":"3654","DOI":"10.1091\/mbc.e14-05-0978","article-title":"Structural basis for activation of trimeric Gi proteins by multiple growth factor receptors via GIV\/Girdin","volume":"25","author":"Lin","year":"2014","journal-title":"Mol Biol Cell"},{"key":"2025072110122636000_ref11","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1016\/j.neuron.2009.08.015","article-title":"Roles of disrupted-In-schizophrenia 1-interacting protein Girdin in postnatal development of the dentate gyrus","volume":"63","author":"Enomoto","year":"2009","journal-title":"Neuron"},{"key":"2025072110122636000_ref12","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1016\/j.neuron.2009.08.008","article-title":"DISC1 regulates new neuron development in the adult brain via modulation of AKT-mTOR Signaling through KIAA1212","volume":"63","author":"Kim","year":"2009","journal-title":"Neuron"},{"key":"2025072110122636000_ref13","doi-asserted-by":"crossref","first-page":"3370","DOI":"10.1016\/j.yexcr.2009.06.019","article-title":"A novel drosophila Girdin-like protein is involved in Akt pathway control of cell size","volume":"315","author":"Puseenam","year":"2009","journal-title":"Exp Cell Res"},{"key":"2025072110122636000_ref14","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1158\/0008-5472.CAN-07-5111","article-title":"An actin-binding protein girdin regulates the motility of breast cancer cells","volume":"68","author":"Jiang","year":"2008","journal-title":"Cancer Res"},{"key":"2025072110122636000_ref15","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1111\/cpr.12285","article-title":"F-actin rearrangement is regulated by mTORC2\/Akt\/Girdin in mouse fertilized eggs","volume":"49","author":"Wu","year":"2016","journal-title":"Cell Prolif"},{"key":"2025072110122636000_ref16","doi-asserted-by":"crossref","first-page":"1780","DOI":"10.1111\/j.1349-7006.2012.02378.x","article-title":"Girdin locates in centrosome and midbody and plays an important role in cell division","volume":"103","author":"Mao","year":"2012","journal-title":"Cancer Sci"},{"key":"2025072110122636000_ref17","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1083\/jcb.200712066","article-title":"Activation of G\u03b1i3 triggers cell migration via regulation of GIV","volume":"182","author":"Ghosh","year":"2008","journal-title":"J Cell Biol"},{"key":"2025072110122636000_ref18","doi-asserted-by":"crossref","first-page":"26895","DOI":"10.1073\/pnas.2011667117","article-title":"TLR4 signaling and macrophage inflammatory responses are dampened by GIV\/Girdin","volume":"117","author":"Swanson","year":"2020","journal-title":"Proc Natl Acad Sci USA"},{"key":"2025072110122636000_ref19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1242\/jcs.242875","article-title":"The DISC1\u2013Girdin complex \u2013 a missing link in signaling to the T cell cytoskeleton","volume":"133","author":"Maskalenko","year":"2020","journal-title":"J Cell Sci"},{"key":"2025072110122636000_ref20","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1091\/mbc.e10-08-0738","article-title":"A GDI (AGS3) and a GEF (GIV) regulate autophagy by balancing G protein activity and growth factor signals","volume":"22","author":"Garcia-Marcos","year":"2011","journal-title":"Mol Biol Cell"},{"key":"2025072110122636000_ref21","doi-asserted-by":"crossref","first-page":"E5721","DOI":"10.1073\/pnas.1609502113","article-title":"GIV\/Girdin activates G\u03b1i and inhibits g\u03b1s via the same motif","volume":"113","author":"Gupta","year":"2016","journal-title":"Proc Natl Acad Sci USA"},{"key":"2025072110122636000_ref22","doi-asserted-by":"crossref","first-page":"3178","DOI":"10.1073\/pnas.0900294106","article-title":"GIV is a nonreceptor GEF for G\u03b1i with a unique motif that regulates Akt signaling","volume":"106","author":"Garcia-Marcos","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"2025072110122636000_ref23","doi-asserted-by":"crossref","first-page":"8109","DOI":"10.1523\/JNEUROSCI.1130-11.2011","article-title":"Girdin is an intrinsic regulator of neuroblast chain migration in the rostral migratory stream of the postnatal brain","volume":"31","author":"Kaneko","year":"2011","journal-title":"J Neurosci"},{"key":"2025072110122636000_ref24","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1038\/ncb1695","article-title":"Regulation of VEGF-mediated angiogenesis by the Akt\/PKB substrate Girdin","volume":"10","author":"Kitamura","year":"2008","journal-title":"Nat Cell Biol"},{"key":"2025072110122636000_ref25","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.bbrc.2012.08.122","article-title":"Similar phenotypes of Girdin germ-line and conditional knockout mice indicate a crucial role for Girdin in the nestin lineage","volume":"426","author":"Asai","year":"2012","journal-title":"Biochem Biophys Res Commun"},{"key":"2025072110122636000_ref26","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1093\/brain\/aww014","article-title":"CCDC88A mutations cause PEHO-like syndrome in humans and mouse","volume":"139","author":"Nahorski","year":"2016","journal-title":"Brain"},{"key":"2025072110122636000_ref27","first-page":"1","article-title":"Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome","volume":"194","author":"Issa","year":"2023","journal-title":"Am J Med Genet A"},{"key":"2025072110122636000_ref28","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1007\/s10072-018-3626-5","article-title":"A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family","volume":"40","author":"Abdulkareem","year":"2019","journal-title":"Neurol Sci"},{"key":"2025072110122636000_ref29","doi-asserted-by":"crossref","first-page":"1","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":"2025072110122636000_ref30","doi-asserted-by":"crossref","first-page":"4623","DOI":"10.1091\/mbc.e12-02-0133","article-title":"G\u03b1s promotes EEA1 endosome maturation and shuts down proliferative signaling through interaction with GIV (Girdin)","volume":"23","author":"Beas","year":"2012","journal-title":"Mol Biol Cell"},{"key":"2025072110122636000_ref31","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.yjmcc.2015.09.012","article-title":"Akt-dependent Girdin phosphorylation regulates repair processes after acute myocardial infarction","volume":"88","author":"Hayano","year":"2015","journal-title":"J Mol Cell Cardiol"},{"key":"2025072110122636000_ref32","doi-asserted-by":"crossref","first-page":"2338","DOI":"10.1091\/mbc.e10-01-0028","article-title":"A G\u03b1i-GIV molecular complex binds epidermal growth factor receptor and determines whether cells migrate or proliferate","volume":"21","author":"Ghosh","year":"2010","journal-title":"Mol Biol Cell"},{"key":"2025072110122636000_ref33","doi-asserted-by":"crossref","DOI":"10.3390\/cells13080659","article-title":"Cell senescence-independent changes of human skin fibroblasts with age","volume":"13","author":"Fullard","year":"2024","journal-title":"Cells"},{"key":"2025072110122636000_ref34","doi-asserted-by":"crossref","first-page":"4313","DOI":"10.1091\/mbc.E15-07-0496","article-title":"Focal adhesions are foci for tyrosine-based signal transduction via GIV\/Girdin and G proteins","volume":"26","author":"Lopez-Sanchez","year":"2015","journal-title":"Mol Biol Cell"},{"key":"2025072110122636000_ref35","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1080\/19336918.2015.1066958","article-title":"Physical view on migration modes","volume":"9","author":"Mierke","year":"2015","journal-title":"Cell Adhes Migr"},{"key":"2025072110122636000_ref36","doi-asserted-by":"crossref","first-page":"4421","DOI":"10.1242\/jcs.113.24.4421","article-title":"Association of cortactin with dynamic actin in lamellipodia and on endosomal vesicles","volume":"113","author":"Kaksonen","year":"2000","journal-title":"J Cell Sci"},{"key":"2025072110122636000_ref37","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ncb3333","article-title":"FAK, Talin and PIPKI 3 regulate endocytosed integrin activation to polarize focal adhesion assembly","volume":"18","author":"Nader","year":"2016","journal-title":"Nat Cell Biol"},{"key":"2025072110122636000_ref38","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a018267","article-title":"The actin cytoskeleton and actin-based motility","volume":"10","author":"Svitkina","year":"2018","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"2025072110122636000_ref39","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fimmu.2021.750537","article-title":"Molecular tuning of actin dynamics in leukocyte migration as revealed by immune-related Actinopathies","volume":"12","author":"Kamnev","year":"2021","journal-title":"Front Immunol"},{"key":"2025072110122636000_ref40","doi-asserted-by":"crossref","DOI":"10.1056\/NEJMsr1406261","volume-title":"ClinGen-the clinical genome resource","author":"Rehm","year":"2015"},{"key":"2025072110122636000_ref41","doi-asserted-by":"crossref","first-page":"2874","DOI":"10.1093\/brain\/awaa174","article-title":"Definitions and classification of malformations of cortical development: practical guidelines","volume":"143","author":"Severino","year":"2020","journal-title":"Brain"},{"key":"2025072110122636000_ref42","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1093\/brain\/awu082","article-title":"The wide spectrum of tubulinopathies: what are the key features for the diagnosis?","volume":"137","author":"Bahi-Buisson","year":"2014","journal-title":"Brain"},{"key":"2025072110122636000_ref43","doi-asserted-by":"crossref","first-page":"2775","DOI":"10.1093\/brain\/awz221","article-title":"Patterns of retrograde axonal degeneration in the visual system","volume":"142","author":"Vries-Knoppert","year":"2019","journal-title":"Brain"},{"key":"2025072110122636000_ref44","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1093\/brain\/awx040","article-title":"ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss","volume":"140","author":"Anttonen","year":"2017","journal-title":"Brain"},{"key":"2025072110122636000_ref45","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1136\/jmg.30.11.932","article-title":"Diagnostic criteria and genetics of the PEHO syndrome","volume":"30","author":"Somer","year":"1993","journal-title":"J Med Genet"},{"key":"2025072110122636000_ref46","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.1016\/j.ajhg.2022.05.008","article-title":"A spectrum of recessiveness among Mendelian disease variants in UK biobank","volume":"109","author":"Barton","year":"2022","journal-title":"Am J Hum Genet"},{"key":"2025072110122636000_ref47","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1161\/CIRCRESAHA.110.236174","article-title":"The actin-binding protein girdin and its akt-mediated phosphorylation regulate neointima formation after vascular injury","volume":"108","author":"Miyake","year":"2011","journal-title":"Circ Res"},{"key":"2025072110122636000_ref48","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fncel.2020.00039","article-title":"Emerging role of the autophagy\/lysosomal degradative pathway in neurodevelopmental disorders with epilepsy","volume":"14","author":"Fassio","year":"2020","journal-title":"Front Cell Neurosci"},{"key":"2025072110122636000_ref49","doi-asserted-by":"crossref","first-page":"2075","DOI":"10.1007\/s00018-011-0913-1","article-title":"Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments","volume":"69","author":"Uusi-Rauva","year":"2012","journal-title":"Cell Mol Life Sci"},{"key":"2025072110122636000_ref50","first-page":"1","article-title":"Transferrin receptor controls AMPA receptor trafficking efficiency and synaptic plasticity","volume":"6","author":"Li","year":"2016","journal-title":"Sci Rep"},{"key":"2025072110122636000_ref51","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.imlet.2011.06.010","article-title":"The effects of cyclosporine a and azathioprine on human T cells activated by different costimulatory signals","volume":"140","author":"Leitner","year":"2011","journal-title":"Immunol Lett"},{"key":"2025072110122636000_ref52","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/j.jaci.2020.12.656","article-title":"Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction","volume":"148","author":"Kaustio","year":"2021","journal-title":"J Allergy Clin Immunol"},{"key":"2025072110122636000_ref53","doi-asserted-by":"crossref","first-page":"R94","DOI":"10.1186\/gb-2011-12-9-r94","article-title":"Comparison of solution-based exome capture methods for next generation sequencing","volume":"12","author":"Sulonen","year":"2011","journal-title":"Genome Biol"},{"key":"2025072110122636000_ref54","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.semcdb.2017.09.031","article-title":"Genetics and mechanisms leading to human cortical malformations","volume":"76","author":"Romero","year":"2018","journal-title":"Semin Cell Dev Biol"},{"volume-title":"Polymicrogyria Overview","year":"2018","author":"Stutterd","key":"2025072110122636000_ref55"},{"key":"2025072110122636000_ref56","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1038\/nmeth.1226","article-title":"Mapping and quantifying mammalian transcriptomes by RNA-Seq","volume":"5","author":"Mortazavi","year":"2008","journal-title":"Nat Methods"},{"key":"2025072110122636000_ref57","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1093\/biostatistics\/kxh008","article-title":"Circular binary segmentation for the analysis of array-based DNA copy number data","volume":"5","author":"Olshen","year":"2004","journal-title":"Biostatistics"},{"key":"2025072110122636000_ref58","doi-asserted-by":"crossref","first-page":"W171","DOI":"10.1093\/nar\/gkz365","article-title":"CHOPCHOP v3: expanding the CRISPR web toolbox beyond genome editing","volume":"47","author":"Labun","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"2025072110122636000_ref59","doi-asserted-by":"crossref","DOI":"10.3389\/fncel.2021.580717","article-title":"Herpes simplex virus type 1 neuronal infection triggers the disassembly of key structural components of dendritic spines","volume":"15","author":"Acu\u00f1a-Hinrichsen","year":"2021","journal-title":"Front Cell Neurosci"},{"key":"2025072110122636000_ref60","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fgene.2021.774846","article-title":"Use ggbreak to effectively utilize plotting space to deal with large datasets and outliers","volume":"12","author":"Xu","year":"2021","journal-title":"Front Genet"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/34\/15\/1294\/63280224\/ddaf081.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/34\/15\/1294\/63280224\/ddaf081.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T14:12:44Z","timestamp":1753107164000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/34\/15\/1294\/8140462"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,22]]},"references-count":60,"journal-issue":{"issue":"15","published-online":{"date-parts":[[2025,5,22]]},"published-print":{"date-parts":[[2025,7,20]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddaf081","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"type":"print","value":"0964-6906"},{"type":"electronic","value":"1460-2083"}],"subject":[],"published-other":{"date-parts":[[2025,8,1]]},"published":{"date-parts":[[2025,5,22]]}}}