{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T07:42:23Z","timestamp":1782978143869,"version":"3.54.5"},"reference-count":76,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T00:00:00Z","timestamp":1693785600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000900","name":"California Institute for Regenerative Medicine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000900","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Dominant optic atrophy (DOA) is an inherited disease that leads to the loss of retinal ganglion cells (RGCs), the projection neurons that relay visual information from the retina to the brain through the optic nerve. The majority of DOA cases can be attributed to mutations in <jats:italic>optic atrophy 1<\/jats:italic> (<jats:italic>OPA1<\/jats:italic>), a nuclear gene encoding a mitochondrial-targeted protein that plays important roles in maintaining mitochondrial structure, dynamics, and bioenergetics. Although <jats:italic>OPA1<\/jats:italic> is ubiquitously expressed in all human tissues, RGCs appear to be the primary cell type affected by <jats:italic>OPA1<\/jats:italic> mutations. DOA has not been extensively studied in human RGCs due to the general unavailability of retinal tissues. However, recent advances in stem cell biology have made it possible to produce human RGCs from pluripotent stem cells (PSCs). To aid in establishing DOA disease models based on human PSC-derived RGCs, we have generated iPSC lines from two DOA patients who carry distinct <jats:italic>OPA1<\/jats:italic> mutations and present very different disease symptoms. Studies using these <jats:italic>OPA1<\/jats:italic> mutant RGCs can be correlated with clinical features in the patients to provide insights into DOA disease mechanisms.<\/jats:p>","DOI":"10.3389\/fgene.2023.1251216","type":"journal-article","created":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T07:29:55Z","timestamp":1693812595000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Establishing induced pluripotent stem cell lines from two dominant optic atrophy patients with distinct OPA1 mutations and clinical pathologies"],"prefix":"10.3389","volume":"14","author":[{"given":"Katherine A.","family":"Pohl","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangmei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anh H.","family":"Pham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane W.","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo A.","family":"Sadun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xian-Jie","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,9,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1570","DOI":"10.1016\/j.bbadis.2012.07.002","article-title":"Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations","volume":"1822","author":"Agier","year":"2012","journal-title":"Biochim. Biophys. Acta"},{"key":"B2","doi-asserted-by":"publisher","first-page":"1029","DOI":"10.1093\/brain\/awm005","article-title":"A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy","volume":"130","author":"Alavi","year":"2007","journal-title":"Brain"},{"key":"B3","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1016\/j.expneurol.2009.09.026","article-title":"Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy","volume":"220","author":"Alavi","year":"2009","journal-title":"Exp. Neurol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1038\/79944","article-title":"OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28","volume":"26","author":"Alexander","year":"2000","journal-title":"Nat. Genet."},{"key":"B5","doi-asserted-by":"publisher","first-page":"1855","DOI":"10.1016\/j.biocel.2009.04.012","article-title":"OPA1-associated disorders: phenotypes and pathophysiology","volume":"41","author":"Amati-Bonneau","year":"2009","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1093\/brain\/awm298","article-title":"OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes","volume":"131","author":"Amati-Bonneau","year":"2008","journal-title":"Brain"},{"key":"B7","doi-asserted-by":"publisher","first-page":"919","DOI":"10.1083\/jcb.201308006","article-title":"The i-AAA protease YME1L and OMA1 cleave OPA1 to balance mitochondrial fusion and fission","volume":"204","author":"Anand","year":"2014","journal-title":"J. Cell Biol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1547","DOI":"10.1016\/j.ophtha.2009.12.042","article-title":"OPA1 mutations associated with dominant optic atrophy influence optic nerve head size","volume":"117","author":"Barboni","year":"2010","journal-title":"Ophthalmology"},{"key":"B9","doi-asserted-by":"publisher","first-page":"2076","DOI":"10.1016\/j.ophtha.2011.02.027","article-title":"Retinal nerve fiber layer thickness in dominant optic atrophy measurements by optical coherence tomography and correlation with age","volume":"118","author":"Barboni","year":"2011","journal-title":"Ophthalmology"},{"key":"B10","doi-asserted-by":"publisher","first-page":"e301","DOI":"10.1093\/brain\/awu184","article-title":"Early-onset Behr syndrome due to compound heterozygous mutations in OPA1","volume":"137","author":"Bonneau","year":"2014","journal-title":"Brain"},{"key":"B11","doi-asserted-by":"publisher","first-page":"R139","DOI":"10.1093\/hmg\/ddx273","article-title":"Optic neuropathies: the tip of the neurodegeneration iceberg","volume":"26","author":"Carelli","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"B12","doi-asserted-by":"publisher","first-page":"e321","DOI":"10.1093\/brain\/awu234","article-title":"Behr syndrome' with OPA1 compound heterozygote mutations","volume":"138","author":"Carelli","year":"2015","journal-title":"Brain"},{"key":"B13","doi-asserted-by":"publisher","first-page":"102903","DOI":"10.1016\/j.scr.2022.102903","article-title":"Generation of induced pluripotent stem cells from a patient with hearing loss carrying OPA1 c.1468T>C (p.Cys490Arg) variant","volume":"64","author":"Chan","year":"2022","journal-title":"Stem Cell Res."},{"key":"B14","doi-asserted-by":"publisher","first-page":"1319","DOI":"10.1093\/hmg\/ddaa047","article-title":"Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity","volume":"29","author":"Chao de la Barca","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"B15","doi-asserted-by":"publisher","first-page":"812","DOI":"10.1167\/iovs.16-21116","article-title":"Targeted metabolomics reveals early dominant optic atrophy signature in optic nerves of Opa1delTTAG\/+ mice","volume":"58","author":"Chao de la Barca","year":"2017","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"B16","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/s13287-015-0264-1","article-title":"Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targets","volume":"7","author":"Chen","year":"2016","journal-title":"Stem Cell Res. Ther."},{"key":"B17","doi-asserted-by":"publisher","first-page":"15927","DOI":"10.1073\/pnas.0407043101","article-title":"OPA1 requires mitofusin 1 to promote mitochondrial fusion","volume":"101","author":"Cipolat","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B18","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1016\/j.cell.2013.08.032","article-title":"Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency","volume":"155","author":"Cogliati","year":"2013","journal-title":"Cell"},{"key":"B19","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1016\/j.ajo.2006.12.038","article-title":"Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations","volume":"143","author":"Cohn","year":"2007","journal-title":"Am. J. Ophthalmol."},{"key":"B20","doi-asserted-by":"publisher","first-page":"53","DOI":"10.3109\/13816811003698117","article-title":"Characterization of Ca2+ signalling in postnatal mouse retinal ganglion cells: involvement of OPA1 in Ca2+ clearance","volume":"31","author":"Dayanithi","year":"2010","journal-title":"Ophthalmic Genet."},{"key":"B21","doi-asserted-by":"publisher","first-page":"2557","DOI":"10.1016\/j.celrep.2017.05.073","article-title":"OPA1 isoforms in the hierarchical organization of mitochondrial functions","volume":"19","author":"Del Dotto","year":"2017","journal-title":"Cell Rep."},{"key":"B22","doi-asserted-by":"publisher","first-page":"584","DOI":"10.1007\/s00439-001-0633-y","article-title":"Mutation spectrum and splicing variants in the OPA1 gene","volume":"109","author":"Delettre","year":"2001","journal-title":"Hum. Genet."},{"key":"B23","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1038\/79936","article-title":"Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy","volume":"26","author":"Delettre","year":"2000","journal-title":"Nat. Genet."},{"key":"B24","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1006\/mgme.2001.3278","article-title":"OPA1 (kjer type) dominant optic atrophy: A novel mitochondrial disease","volume":"75","author":"Delettre","year":"2002","journal-title":"Mol. Genet. Metab."},{"key":"B25","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1016\/s0002-9394(14)73589-5","article-title":"Visual prognosis in autosomal dominant optic atrophy (Kjer type)","volume":"115","author":"Eliott","year":"1993","journal-title":"Am. J. Ophthalmol."},{"key":"B26","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1002\/humu.21025","article-title":"Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations","volume":"30","author":"Ferr\u00e9","year":"2009","journal-title":"Hum. Mutat."},{"key":"B27","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1016\/j.cell.2006.06.025","article-title":"OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion","volume":"126","author":"Frezza","year":"2006","journal-title":"Cell"},{"key":"B28","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1016\/j.scr.2016.03.011","article-title":"Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene","volume":"16","author":"Galera-Monge","year":"2016","journal-title":"Stem Cell Res."},{"key":"B29","doi-asserted-by":"publisher","first-page":"18792","DOI":"10.1074\/jbc.M400920200","article-title":"Loss of the intermembrane space protein mgm1\/OPA1 induces swelling and localized constrictions along the lengths of mitochondria","volume":"279","author":"Griparic","year":"2004","journal-title":"J. Biol. Chem."},{"key":"B30","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1186\/s12886-022-02546-0","article-title":"Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis","volume":"22","author":"Han","year":"2022","journal-title":"BMC Ophthalmol."},{"key":"B31","doi-asserted-by":"publisher","first-page":"1424","DOI":"10.1167\/iovs.09-3606","article-title":"Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy","volume":"51","author":"Heiduschka","year":"2010","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"B32","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/s0161-6420(80)35247-0","article-title":"Autosomal dominant optic atrophy. A spectrum of disability","volume":"87","author":"Hoyt","year":"1980","journal-title":"Ophthalmology"},{"key":"B33","doi-asserted-by":"publisher","first-page":"2066","DOI":"10.1016\/j.celrep.2018.01.089","article-title":"Pharmacological inhibition of necroptosis protects from dopaminergic neuronal cell death in Parkinson's disease models","volume":"22","author":"Iannielli","year":"2018","journal-title":"Cell Rep."},{"key":"B34","doi-asserted-by":"publisher","first-page":"2966","DOI":"10.1038\/sj.emboj.7601184","article-title":"Regulation of mitochondrial morphology through proteolytic cleavage of OPA1","volume":"25","author":"Ishihara","year":"2006","journal-title":"EMBO J."},{"key":"B35","doi-asserted-by":"publisher","first-page":"915","DOI":"10.1002\/ana.25221","article-title":"Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA1","volume":"83","author":"Jonikas","year":"2018","journal-title":"Ann. Neurol."},{"key":"B36","first-page":"1190","article-title":"Linkage analysis in dominant optic atrophy","volume":"35","author":"Kivlin","year":"1983","journal-title":"Am. J. Hum. Genet."},{"key":"B37","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1111\/j.1600-0420.1996.tb00672.x","article-title":"Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects","volume":"74","author":"Kjer","year":"1996","journal-title":"Acta Ophthalmol. Scand."},{"key":"B38","first-page":"1","article-title":"Infantile optic atrophy with dominant mode of inheritance: A clinical and genetic study of 19 Danish families","volume":"164","author":"Kjer","year":"1959","journal-title":"Acta Ophthalmol. Suppl."},{"key":"B39","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1186\/s13023-019-1187-1","article-title":"OPA1: 516 unique variants and 831 patients registered in an updated centralized variome database","volume":"14","author":"Le Roux","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"key":"B40","doi-asserted-by":"publisher","first-page":"7115","DOI":"10.1074\/jbc.M116.762567","article-title":"The short variant of the mitochondrial dynamin OPA1 maintains mitochondrial energetics and cristae structure","volume":"292","author":"Lee","year":"2017","journal-title":"J. Biol. Chem."},{"key":"B41","doi-asserted-by":"publisher","first-page":"33","DOI":"10.3892\/mmr.2016.5209","article-title":"Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1","volume":"14","author":"Lee","year":"2016","journal-title":"Mol. Med. Rep."},{"key":"B42","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1002\/ana.20278","article-title":"Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy","volume":"56","author":"Lodi","year":"2004","journal-title":"Ann. Neurology"},{"key":"B43","first-page":"559","article-title":"Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort","volume":"25","author":"Maeda-Katahira","year":"2019","journal-title":"Mol. Vis."},{"key":"B44","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1186\/s13023-017-0641-1","article-title":"Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations","volume":"12","author":"Nasca","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"B45","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/9780470151808.sc01h08s32","article-title":"Generation of highly enriched populations of optic vesicle-like retinal cells from human pluripotent stem cells","volume":"32","author":"Ohlemacher","year":"2015","journal-title":"Curr. Protoc. Stem Cell Biol."},{"key":"B46","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1002\/stem.1293","article-title":"An efficient nonviral method to generate integration-free human-induced pluripotent stem cells from cord blood and peripheral blood cells","volume":"31","author":"Okita","year":"2013","journal-title":"Stem Cells"},{"key":"B47","doi-asserted-by":"publisher","first-page":"7743","DOI":"10.1074\/jbc.C200677200","article-title":"Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis","volume":"278","author":"Olichon","year":"2003","journal-title":"J. Biol. Chem."},{"key":"B48","doi-asserted-by":"publisher","first-page":"682","DOI":"10.1038\/sj.cdd.4402048","article-title":"OPA1 alternate splicing uncouples an evolutionary conserved function in mitochondrial fusion from a vertebrate restricted function in apoptosis","volume":"14","author":"Olichon","year":"2007","journal-title":"Cell Death Differ."},{"key":"B49","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1038\/nprot.2009.51","article-title":"Stepwise differentiation of pluripotent stem cells into retinal cells","volume":"4","author":"Osakada","year":"2009","journal-title":"Nat. Protoc."},{"key":"B50","doi-asserted-by":"publisher","first-page":"1005","DOI":"10.3390\/genes13061005","article-title":"Biallelic optic atrophy 1 (OPA1) related disorder-case report and literature review","volume":"13","author":"Othman","year":"2022","journal-title":"Genes (Basel)"},{"key":"B51","doi-asserted-by":"publisher","first-page":"3399","DOI":"10.1038\/s41467-018-05655-x","article-title":"The cristae modulator Optic atrophy 1 requires mitochondrial ATP synthase oligomers to safeguard mitochondrial function","volume":"9","author":"Quintana-Cabrera","year":"2018","journal-title":"Nat. Commun."},{"key":"B52","doi-asserted-by":"publisher","first-page":"585675","DOI":"10.3389\/fcell.2020.585675","article-title":"Generation of a transplantable population of human iPSC-derived retinal ganglion cells","volume":"8","author":"Rabesandratana","year":"2020","journal-title":"Front. Cell Dev. Biol."},{"key":"B53","doi-asserted-by":"publisher","first-page":"e59218","DOI":"10.1371\/journal.pone.0059218","article-title":"Opa1 is required for proper mitochondrial metabolism in early development","volume":"8","author":"Rahn","year":"2013","journal-title":"PLoS One"},{"key":"B54","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/cdd.2012.95","article-title":"Optic atrophy 1 mediates mitochondria remodeling and dopaminergic neurodegeneration linked to complex I deficiency","volume":"20","author":"Ramonet","year":"2013","journal-title":"Cell Death Differ."},{"key":"B55","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1016\/j.ymgme.2011.04.018","article-title":"Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations","volume":"103","author":"Schaaf","year":"2011","journal-title":"Mol. Genet. Metabolism"},{"key":"B56","doi-asserted-by":"publisher","first-page":"3478","DOI":"10.1093\/hmg\/ddac128","article-title":"Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells","volume":"31","author":"Sladen","year":"2022","journal-title":"Hum. Mol. Genet."},{"key":"B57","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1016\/j.omtn.2021.08.015","article-title":"CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs","volume":"26","author":"Sladen","year":"2021","journal-title":"Mol. Ther. - Nucleic Acids"},{"key":"B58","doi-asserted-by":"publisher","first-page":"1972","DOI":"10.1002\/sctm.17-0059","article-title":"Enhanced stem cell differentiation and immunopurification of genome engineered human retinal ganglion cells","volume":"6","author":"Sluch","year":"2017","journal-title":"Stem Cells Transl. Med."},{"key":"B59","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1083\/jcb.200704110","article-title":"OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L","volume":"178","author":"Song","year":"2007","journal-title":"J. Cell Biol."},{"key":"B60","doi-asserted-by":"publisher","first-page":"102705","DOI":"10.1016\/j.scr.2022.102705","article-title":"Generation of a human induced pluripotent stem cell line PUMCHi019-A from a dominant optic atrophy patient with an OPA1 mutation","volume":"60","author":"Sun","year":"2022","journal-title":"Stem Cell Res."},{"key":"B61","doi-asserted-by":"publisher","first-page":"101851","DOI":"10.1016\/j.scr.2020.101851","article-title":"Generation of twenty four induced pluripotent stem cell lines from twenty four members of the Lothian Birth Cohort 1936","volume":"46","author":"Toombs","year":"2020","journal-title":"Stem Cell Res."},{"key":"B62","doi-asserted-by":"publisher","first-page":"1369","DOI":"10.1093\/hmg\/10.13.1369","article-title":"Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy","volume":"10","author":"Toomes","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"B63","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1016\/s0161-6420(84)34214-2","article-title":"Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome","volume":"91","author":"Treft","year":"1984","journal-title":"Ophthalmology"},{"key":"B64","doi-asserted-by":"publisher","first-page":"e21347","DOI":"10.1371\/journal.pone.0021347","article-title":"Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy","volume":"6","author":"van Bergen","year":"2011","journal-title":"PLoS ONE"},{"key":"B65","doi-asserted-by":"publisher","first-page":"834","DOI":"10.1016\/j.cmet.2015.05.007","article-title":"The OPA1-dependent mitochondrial cristae remodeling pathway controls atrophic, apoptotic, and ischemic tissue damage","volume":"21","author":"Varanita","year":"2015","journal-title":"Cell Metab."},{"key":"B66","doi-asserted-by":"publisher","first-page":"2567","DOI":"10.1167\/iovs.08-2913","article-title":"OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy","volume":"50","author":"White","year":"2009","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"B67","doi-asserted-by":"publisher","first-page":"2942","DOI":"10.1093\/brain\/awq218","article-title":"Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy","volume":"133","author":"Williams","year":"2010","journal-title":"Brain"},{"key":"B68","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1093\/brain\/awr330","article-title":"Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity","volume":"135","author":"Williams","year":"2012","journal-title":"Brain"},{"key":"B69","doi-asserted-by":"publisher","first-page":"1538","DOI":"10.1016\/j.ophtha.2009.12.038","article-title":"The prevalence and natural history of dominant optic atrophy due to OPA1 mutations","volume":"117","author":"Yu-Wai-Man","year":"","journal-title":"Ophthalmology"},{"key":"B70","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/j.preteyeres.2010.11.002","article-title":"Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies","volume":"30","author":"Yu-Wai-Man","year":"2011","journal-title":"Prog. Retin Eye Res."},{"key":"B71","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1093\/brain\/awq007","article-title":"Multi-system neurological disease is common in patients with OPA1 mutations","volume":"133","author":"Yu-Wai-Man","year":"","journal-title":"Brain"},{"key":"B72","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1093\/brain\/awm335","article-title":"OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion","volume":"131","author":"Zanna","year":"2008","journal-title":"Brain"},{"key":"B73","doi-asserted-by":"publisher","first-page":"1043","DOI":"10.1007\/s11011-019-00415-2","article-title":"Metabolic stroke in a patient with bi-allelic OPA1 mutations","volume":"34","author":"Zerem","year":"2019","journal-title":"Metab. Brain Dis."},{"key":"B74","doi-asserted-by":"publisher","first-page":"653305","DOI":"10.3389\/fcell.2021.653305","article-title":"Single cell transcriptomic analyses reveal the impact of bHLH factors on human retinal organoid development","volume":"9","author":"Zhang","year":"","journal-title":"Front. Cell Dev. Biol."},{"key":"B75","doi-asserted-by":"publisher","first-page":"102278","DOI":"10.1016\/j.scr.2021.102278","article-title":"Generation of an induced pluripotent stem cell line BIOi002-A from a patient with autosomal dominant optic atrophy","volume":"53","author":"Zhang","year":"","journal-title":"Stem Cell Res."},{"key":"B76","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/j.scr.2017.08.017","article-title":"Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg","volume":"24","author":"Zurita-Diaz","year":"2017","journal-title":"Stem Cell Res."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2023.1251216\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T07:30:01Z","timestamp":1693812601000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2023.1251216\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,4]]},"references-count":76,"alternative-id":["10.3389\/fgene.2023.1251216"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2023.1251216","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,4]]},"article-number":"1251216"}}