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Mutations in DNMT1 have been associated with autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN). We used fibroblasts, induced pluripotent stem cells (iPSCs) and induced neurons (iNs) generated from patients with ADCA-DN and controls, to explore the epigenomic and transcriptomic effects of mutations in DNMT1. We show cell type\u2013specific changes in gene expression and DNA methylation patterns. DNA methylation and gene expression changes were negatively correlated in iPSCs and iNs. In addition, we identified a group of genes associated with clinical phenotypes of ADCA-DN, including PDGFB and PRDM8 for cerebellar ataxia, psychosis and dementia and NR2F1 for deafness and optic atrophy. Furthermore, ZFP57, which is required to maintain gene imprinting through DNA methylation during early development, was hypomethylated in promoters and exhibited upregulated expression in patients with ADCA-DN in both iPSC and iNs. Our results provide insight into the functions of DNMT1 and the molecular changes associated with ADCA-DN, with potential implications for genes associated with related phenotypes.<\/jats:p>","DOI":"10.1093\/hmg\/ddad123","type":"journal-article","created":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T08:53:11Z","timestamp":1692175991000},"page":"3105-3120","source":"Crossref","is-referenced-by-count":8,"title":["Mutations in human DNA methyltransferase\n                    <i>DNMT1<\/i>\n                    induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment"],"prefix":"10.1093","volume":"32","author":[{"given":"Kasey N","family":"Davis","sequence":"first","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine , Palo Alto, CA 94304 , USA"},{"name":"Department of Genetics, Stanford University School of Medicine , Palo Alto CA 94304 , 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Neural Sciences, , Modena 41125 , Italy"},{"name":"University of Modena and Reggio Emilia , Metabolic and Neural Sciences, , Modena 41125 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Pizza","sequence":"additional","affiliation":[{"name":"IRCCS\u2014Istituto delle Scienze Neurologiche di Bologna , Bologna 40139 , Italy"},{"name":"Department of Biomedical and Neuromotor Sciences, University of Bologna , Bologna 40126 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"O\u2019Hara","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine , Palo Alto, CA 94304 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wing Hung","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Statistics, Stanford University , Stanford, CA 94305 , USA"},{"name":"Department of Biomedical Data Science, Stanford University School of Medicine , Palo Alto, CA 94304 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"Hallmayer","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine , Palo Alto, CA 94304 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Mignot","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine , Palo Alto, CA 94304 , USA"},{"name":"Center for Narcolepsy, Stanford University School of Medicine , Palo Alto, CA 94304 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0977-5673","authenticated-orcid":false,"given":"Xianglong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine , Palo Alto, CA 94304 , USA"},{"name":"Department of Genetics, Stanford University School of Medicine , Palo Alto CA 94304 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander E","family":"Urban","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine , Palo Alto, CA 94304 , USA"},{"name":"Department of Genetics, Stanford University School of Medicine , Palo Alto CA 94304 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,8,16]]},"reference":[{"key":"2023101912580103500_ref1","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/S0074-7742(09)89004-1","article-title":"The role of DNA methylation in the central nervous system and neuropsychiatric disorders","volume":"89","author":"Feng","year":"2009","journal-title":"Int. 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Biol."},{"key":"2023101912580103500_ref24","doi-asserted-by":"crossref","first-page":"813","DOI":"10.2217\/epi.15.21","article-title":"Base resolution methylome profiling: considerations in platform selection, data preprocessing and analysis","volume":"7","author":"Sun","year":"2015","journal-title":"Epigenomics"},{"key":"2023101912580103500_ref25","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.2217\/epi.15.64","article-title":"DNA methylation profiling: comparison of genome-wide sequencing methods and the Infinium human methylation 450 bead Chip","volume":"7","author":"Walker","year":"2015","journal-title":"Epigenomics"},{"key":"2023101912580103500_ref26","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1093\/bioinformatics\/btr167","article-title":"Bismark: a flexible aligner and methylation caller for Bisulfite-Seq applications","volume":"27","author":"Krueger","year":"2011","journal-title":"Bioinformatics"},{"key":"2023101912580103500_ref27","doi-asserted-by":"crossref","first-page":"2678","DOI":"10.1093\/bioinformatics\/bts503","article-title":"Qualimap: evaluating next-generation sequencing alignment data","volume":"28","author":"Garc\u00eda-Alcalde","year":"2012","journal-title":"Bioinformatics"},{"key":"2023101912580103500_ref28","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1101\/gr.196394.115","article-title":"Metilene: fast and sensitive calling of differentially methylated regions from bisulfite sequencing data","volume":"26","author":"J\u00fchling","year":"2016","journal-title":"Genome Res."},{"key":"2023101912580103500_ref29","doi-asserted-by":"crossref","first-page":"48350","DOI":"10.1074\/jbc.M403427200","article-title":"The Dnmt1 DNA-(cytosine-C5)-methyltransferase methylates DNA processively with high preference for hemimethylated target sites","volume":"279","author":"Hermann","year":"2004","journal-title":"J. Biol. Chem."},{"key":"2023101912580103500_ref30","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1158\/0008-5472.CAN-06-3123","article-title":"Endogenous cytosine damage products alter the site selectivity of human DNA maintenance methyltransferase DNMT1","volume":"67","author":"Valinluck","year":"2007","journal-title":"Cancer Res."},{"key":"2023101912580103500_ref31","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/nrm2640","article-title":"Epigenetic inheritance during the cell cycle","volume":"10","author":"Probst","year":"2009","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"2023101912580103500_ref32","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/nmeth.1923","article-title":"Fast gapped-read alignment with bowtie 2","volume":"9","author":"Langmead","year":"2012","journal-title":"Nat. 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Mol. Biol."},{"key":"2023101912580103500_ref42","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1093\/brain\/awx081","article-title":"A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies","volume":"140","author":"Coutelier","year":"2017","journal-title":"Brain"},{"key":"2023101912580103500_ref43","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1001\/archneur.58.10.1649","article-title":"Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia","volume":"58","author":"Figueroa","year":"2001","journal-title":"Arch. Neurol."},{"key":"2023101912580103500_ref44","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.jns.2007.09.004","article-title":"The CNTN4 c.4256C&gt;T mutation is rare in Japanese with inherited spinocerebellar ataxia","volume":"266","author":"Tanaka","year":"2008","journal-title":"J. Neurol. Sci."},{"key":"2023101912580103500_ref45","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1007\/s00436-017-5373-6","article-title":"Morphological characterization and HSP70-, IGS-based phylogenetic analysis of two microsporidian parasites isolated from Antheraea pernyi","volume":"116","author":"Wang","year":"2017","journal-title":"Parasitol. Res."},{"key":"2023101912580103500_ref46","doi-asserted-by":"crossref","first-page":"e46132","DOI":"10.1371\/journal.pone.0046132","article-title":"Mechanisms of hearing loss in neurofibromatosis type 2","volume":"7","author":"Asthagiri","year":"2012","journal-title":"PLoS One"},{"key":"2023101912580103500_ref47","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1038\/leu.2013.105","article-title":"Highly variable clinical manifestations in a large family with a novel GATA2 mutation","volume":"27","author":"Mutsaers","year":"2013","journal-title":"Leukemia"},{"key":"2023101912580103500_ref48","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1111\/j.1399-0004.2008.01004.x","article-title":"Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia","volume":"73","author":"Tekin","year":"2008","journal-title":"Clin. Genet."},{"issue":"524\u2013535","key":"2023101912580103500_ref49","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1038\/sj.mp.4001358","article-title":"Novel truncated isoform of SK3 potassium channel is a potent dominant-negative regulator of SK currents: implications in schizophrenia","volume":"8","author":"Tomita","year":"2003","journal-title":"Mol. Psychiatry"},{"key":"2023101912580103500_ref50","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/j.schres.2004.06.001","article-title":"Case-control association study of the close homologue of L1 (CHL1) gene and schizophrenia in the Chinese population","volume":"73","author":"Chen","year":"2005","journal-title":"Schizophr. Res."},{"key":"2023101912580103500_ref51","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.psychres.2007.12.002","article-title":"Association study of polymorphisms in the group III metabotropic glutamate receptor genes, GRM4 and GRM7, with schizophrenia","volume":"167","author":"Shibata","year":"2009","journal-title":"Psychiatry Res."},{"key":"2023101912580103500_ref52","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1007\/s00439-010-0862-z","article-title":"An approach based on a genome-wide association study reveals candidate loci for narcolepsy","volume":"128","author":"Shimada","year":"2010","journal-title":"Hum. Genet."},{"key":"2023101912580103500_ref53","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1172\/JCI41366","article-title":"Elevated Tribbles homolog 2-specific antibody levels in narcolepsy patients","volume":"120","author":"Cvetkovic-Lopes","year":"2010","journal-title":"J. Clin. Invest."},{"key":"2023101912580103500_ref54","doi-asserted-by":"crossref","first-page":"1751","DOI":"10.1212\/WNL.0000000000001524","article-title":"GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia","volume":"84","author":"Coutelier","year":"2015","journal-title":"Neurology"},{"key":"2023101912580103500_ref55","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1038\/ng2063","article-title":"Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-barrow and facio-oculo-acoustico-renal syndromes","volume":"39","author":"Kantarci","year":"2007","journal-title":"Nat. Genet."},{"key":"2023101912580103500_ref56","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1038\/ng.2765","article-title":"Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development","volume":"45","author":"Cappello","year":"2013","journal-title":"Nat. Genet."},{"key":"2023101912580103500_ref57","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1038\/ejhg.2012.57","article-title":"Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance","volume":"20","author":"Mansour","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"2023101912580103500_ref58","doi-asserted-by":"crossref","first-page":"2067","DOI":"10.2147\/NDT.S165445","article-title":"Characterization of mutations in","volume":"14","author":"Bagyinszky","year":"2018","journal-title":"Neuropsychiatr. Dis. Treat."},{"key":"2023101912580103500_ref59","doi-asserted-by":"crossref","first-page":"2684","DOI":"10.1093\/brain\/aws205","article-title":"Early-onset Lafora body disease","volume":"135","author":"Turnbull","year":"2012","journal-title":"Brain"},{"key":"2023101912580103500_ref60","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1038\/3059","article-title":"Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice","volume":"20","author":"Pennacchio","year":"1998","journal-title":"Nat. Genet."},{"key":"2023101912580103500_ref61","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1038\/ng.2723","article-title":"Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice","volume":"45","author":"Keller","year":"2013","journal-title":"Nat. Genet."},{"key":"2023101912580103500_ref62","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1136\/jmg.2004.018523","article-title":"Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction","volume":"41","author":"Naz","year":"2004","journal-title":"J. Med. Genet."},{"key":"2023101912580103500_ref63","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.ijporl.2017.10.042","article-title":"A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members","volume":"104","author":"Cesca","year":"2018","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"2023101912580103500_ref64","first-page":"1","article-title":"Identification of binding partners of deafness-related protein PDZD7","volume":"2018","author":"Du","year":"2018","journal-title":"Neural Plast"},{"key":"2023101912580103500_ref65","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1186\/1750-1172-9-55","article-title":"EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness","volume":"9","author":"Behlouli","year":"2014","journal-title":"Orphanet. J. Rare Dis."},{"key":"2023101912580103500_ref66","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/j.ajhg.2015.12.004","article-title":"Autosomal-recessive hearing impairment due to rare missense variants within S1PR2","volume":"98","author":"Santos-Cortez","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"2023101912580103500_ref67","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.ajhg.2010.12.011","article-title":"Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42","volume":"88","author":"Borck","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"2023101912580103500_ref68","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1016\/j.ajhg.2018.08.006","article-title":"Genomic landscape and mutational signatures of deafness-associated genes","volume":"103","author":"Azaiez","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"2023101912580103500_ref69","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1002\/ajmg.a.32764","article-title":"NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness","volume":"149A","author":"Brown","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"2023101912580103500_ref70","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1002\/jcp.20950","article-title":"Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis","volume":"211","author":"Olichon","year":"2007","journal-title":"J. Cell. Physiol."},{"key":"2023101912580103500_ref71","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/ajmg.a.35650","article-title":"NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay","volume":"161A","author":"Al-Kateb","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"2023101912580103500_ref72","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.neulet.2015.05.018","article-title":"Association between NR4A2 genetic variation and schizophrenia: A comprehensive systematic review and meta-analysis","volume":"598","author":"Liu","year":"2015","journal-title":"Neurosci. Lett."},{"key":"2023101912580103500_ref73","doi-asserted-by":"crossref","first-page":"10697","DOI":"10.1007\/s11033-012-1960-x","article-title":"Genetic variants of GRIA1 are associated with susceptibility to schizophrenia in Korean population","volume":"39","author":"Kang","year":"2012","journal-title":"Mol. Biol. Rep."},{"key":"2023101912580103500_ref74","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1007\/s00406-013-0464-6","article-title":"Association of variants in DRD2 and GRM3 with motor and cognitive function in first-episode psychosis","volume":"264","author":"Lencer","year":"2014","journal-title":"Eur. Arch. Psychiatry Clin. Neurosci."},{"key":"2023101912580103500_ref75","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1002\/ajmg.b.30674","article-title":"Study on GRIA2, GRIA3 and GRIA4 genes highlights a positive association between schizophrenia and GRIA3 in female patients","volume":"147B","author":"Magri","year":"2008","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"2023101912580103500_ref76","first-page":"2473","article-title":"A novel relationship for schizophrenia, bipolar and major depressive disorder part 5: a hint from chromosome 5 high density association screen","volume":"9","author":"Chen","year":"2017","journal-title":"Am. J. Transl. Res."},{"key":"2023101912580103500_ref77","doi-asserted-by":"crossref","first-page":"821827","DOI":"10.1155\/2015\/821827","article-title":"Association between ANKK1 (rs1800497) and LTA (rs909253) genetic variants and risk of schizophrenia","volume":"2015","author":"Arab","year":"2015","journal-title":"Biomed. Res. Int."},{"key":"2023101912580103500_ref78","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1186\/s13039-015-0144-5","article-title":"Assessment of copy number variations in the brain genome of schizophrenia patients","volume":"8","author":"Sakai","year":"2015","journal-title":"Mol. Cytogenet."},{"key":"2023101912580103500_ref79","doi-asserted-by":"crossref","first-page":"3717","DOI":"10.1073\/pnas.042700699","article-title":"Genetic variation at the 22q11 PRODH2\/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia","volume":"99","author":"Liu","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2023101912580103500_ref80","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1136\/jmg.2008.061804","article-title":"Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease","volume":"45","author":"Beck","year":"2008","journal-title":"J. Med. Genet."},{"key":"2023101912580103500_ref81","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.nbd.2007.07.001","article-title":"Reduced CXCL12\/CXCR4 results in impaired learning and is downregulated in a mouse model of Alzheimer disease","volume":"28","author":"Parachikova","year":"2007","journal-title":"Neurobiol. Dis."},{"key":"2023101912580103500_ref82","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1038\/ng.1077","article-title":"Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis","volume":"44","author":"Wang","year":"2012","journal-title":"Nat. Genet."},{"key":"2023101912580103500_ref83","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1038\/ng.187","article-title":"Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57","volume":"40","author":"Mackay","year":"2008","journal-title":"Nat. Genet."},{"key":"2023101912580103500_ref84","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/j.molcel.2011.08.032","article-title":"In embryonic stem cells, ZFP57\/KAP1 recognize a methylated hexanucleotide to affect chromatin and DNA methylation of imprinting control regions","volume":"44","author":"Quenneville","year":"2011","journal-title":"Mol. Cell"},{"key":"2023101912580103500_ref85","doi-asserted-by":"crossref","first-page":"8165","DOI":"10.1093\/nar\/gkw505","article-title":"ZFP57 maintains the parent-of-origin-specific expression of the imprinted genes and differentially affects non-imprinted targets in mouse embryonic stem cells","volume":"44","author":"Riso","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"2023101912580103500_ref86","doi-asserted-by":"crossref","first-page":"e1001048","DOI":"10.1371\/journal.pbio.1001048","article-title":"Eps8 regulates hair bundle length and functional maturation of mammalian auditory hair cells","volume":"9","author":"Zampini","year":"2011","journal-title":"PLoS Biol."},{"key":"2023101912580103500_ref87","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.heares.2006.06.016","article-title":"The S1P2 sphingosine 1-phosphate receptor is essential for auditory and vestibular function","volume":"220","author":"MacLennan","year":"2006","journal-title":"Hear. Res."},{"key":"2023101912580103500_ref88","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.parkreldis.2004.12.001","article-title":"What is and what is not 'Fahr's disease'","volume":"11","author":"Manyam","year":"2005","journal-title":"Parkinsonism Relat. Disord."},{"key":"2023101912580103500_ref89","doi-asserted-by":"crossref","first-page":"D896","DOI":"10.1093\/nar\/gkw1133","article-title":"The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)","volume":"45","author":"MacArthur","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"2023101912580103500_ref90","doi-asserted-by":"crossref","DOI":"10.7717\/peerj.66","article-title":"Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia","volume":"1","author":"Khor","year":"2013","journal-title":"PeerJ."},{"key":"2023101912580103500_ref91","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1097\/MCP.0000000000000426","article-title":"Autoimmunity in narcolepsy","volume":"23","author":"Bonvalet","year":"2017","journal-title":"Curr. Opin. Pulm. Med."},{"key":"2023101912580103500_ref92","doi-asserted-by":"crossref","first-page":"1864","DOI":"10.1093\/hmg\/ddaa014","article-title":"DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism","volume":"29","author":"Maresca","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"2023101912580103500_ref93","doi-asserted-by":"crossref","first-page":"2118","DOI":"10.1016\/j.stemcr.2021.07.006","article-title":"NGN2 induces diverse neuron types from human pluripotency","volume":"16","author":"Lin","year":"2021","journal-title":"Stem Cell Reports"},{"key":"2023101912580103500_ref94","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1016\/j.cell.2011.06.019","article-title":"Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations","volume":"146","author":"Soldner","year":"2011","journal-title":"Cell"},{"key":"2023101912580103500_ref95","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1111\/bpa.12526","article-title":"Modeling Parkinson's disease with induced pluripotent stem cells harboring \u03b1-synuclein mutations","volume":"27","author":"Singh Dolt","year":"2017","journal-title":"Brain Pathol."},{"key":"2023101912580103500_ref96","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1126\/science.aay3983","article-title":"Allele-specific open chromatin in human iPSC neurons elucidates functional disease variants","volume":"369","author":"Zhang","year":"2020","journal-title":"Science"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddad123\/51234621\/ddad123.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/32\/21\/3105\/52187552\/ddad123.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/32\/21\/3105\/52187552\/ddad123.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T12:55:17Z","timestamp":1697720117000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/32\/21\/3105\/7243045"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,16]]},"references-count":96,"journal-issue":{"issue":"21","published-online":{"date-parts":[[2023,8,16]]},"published-print":{"date-parts":[[2023,10,17]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddad123","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,11,1]]},"published":{"date-parts":[[2023,8,16]]}}}