{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T07:10:42Z","timestamp":1791443442659,"version":"4.3.3"},"reference-count":72,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T00:00:00Z","timestamp":1770336000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004731","name":"Zhejiang Province Natural Science Foundation","doi-asserted-by":"publisher","award":["LQN25H120002"],"award-info":[{"award-number":["LQN25H120002"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007835","name":"Wenzhou Medical University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007835","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017531","name":"Medical and Health Research Project of Zhejiang Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100017531","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32500514"],"award-info":[{"award-number":["32500514"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["U25A20134"],"award-info":[{"award-number":["U25A20134"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017594","name":"Medical Science and Technology Project of Zhejiang Province","doi-asserted-by":"publisher","award":["2025KY084"],"award-info":[{"award-number":["2025KY084"]}],"id":[{"id":"10.13039\/501100017594","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetics and Genomics"],"published-print":{"date-parts":[[2026,7]]},"DOI":"10.1016\/j.jgg.2026.02.003","type":"journal-article","created":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T15:47:13Z","timestamp":1770565633000},"page":"1266-1282","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Optic neuropathy arising from the synergy between YARS2 and mitochondrial COX1 mutations"],"prefix":"10.1016","volume":"53","author":[{"given":"Huiying","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng","family":"Ai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaofen","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-2669-4568","authenticated-orcid":false,"given":"Jun","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9707-8669","authenticated-orcid":false,"given":"Yinglong","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas C.","family":"Wallace","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5067-6736","authenticated-orcid":false,"given":"Min-Xin","family":"Guan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jgg.2026.02.003_bib1","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.188962","article-title":"Vitamin A treatment restores vision failures arising from Leber\u2019s hereditary optic neuropathy-linked mtDNA mutation","volume":"10","author":"Ai","year":"2025","journal-title":"JCI Insight"},{"key":"10.1016\/j.jgg.2026.02.003_bib2","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1016\/j.neuron.2009.01.020","article-title":"Distinct roles of transcription factors Brn3a and Brn3b in controlling the development, morphology, and function of retinal ganglion cells","volume":"61","author":"Badea","year":"2009","journal-title":"Neuron"},{"key":"10.1016\/j.jgg.2026.02.003_bib3","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/humu.1380060405","article-title":"Phylogenetic analysis of Leber\u2019s hereditary optic neuropathy mitochondrial DNA\u2019s indicates multiple independent occurrences of the common mutations","volume":"6","author":"Brown","year":"1995","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jgg.2026.02.003_bib4","doi-asserted-by":"crossref","first-page":"39831","DOI":"10.1074\/jbc.M006476200","article-title":"Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber\u2019s hereditary optic neuropathy mitochondrial DNA mutation","volume":"275","author":"Brown","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jgg.2026.02.003_bib5","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/j.bbabio.2009.02.024","article-title":"Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders","volume":"1787","author":"Carelli","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.jgg.2026.02.003_bib6","doi-asserted-by":"crossref","first-page":"2416","DOI":"10.1038\/s41433-023-02523-x","article-title":"Mitochondria and the eye-manifestations of mitochondrial diseases and their management","volume":"37","author":"Chen","year":"2023","journal-title":"Eye (Lond)"},{"key":"10.1016\/j.jgg.2026.02.003_bib7","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a041282","article-title":"From bench to bedside-delivering gene therapy for Leber hereditary optic neuropathy","volume":"12,","author":"Chen","year":"2022","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"10.1016\/j.jgg.2026.02.003_bib8","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1093\/hmg\/ddad001","article-title":"Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber\u2019s hereditary optic neuropathy","volume":"32","author":"Chen","year":"2023","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jgg.2026.02.003_bib9","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.3390\/ijms25021314","article-title":"Mitochondrial glutathione in cellular redox homeostasis and disease manifestation","volume":"25","author":"Chen","year":"2024","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.jgg.2026.02.003_bib10","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.brainres.2017.07.025","article-title":"Retinal metabolism: a comparative look at energetics in the retina","volume":"1672","author":"Country","year":"2017","journal-title":"Brain Res."},{"key":"10.1016\/j.jgg.2026.02.003_bib11","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1097\/ICU.0000000000000891","article-title":"Leber hereditary optic neuropathy: new and emerging therapies","volume":"33","author":"Davila-Siliezar","year":"2022","journal-title":"Curr. Opin. Ophthalmol."},{"key":"10.1016\/j.jgg.2026.02.003_bib12","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1016\/j.cell.2012.03.042","article-title":"Ferroptosis: an iron-dependent form of nonapoptotic cell death","volume":"149","author":"Dixon","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.jgg.2026.02.003_bib13","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1016\/j.cmet.2019.01.006","article-title":"IGF-2 preprograms maturing macrophages to acquire oxidative phosphorylation-dependent anti-inflammatory properties","volume":"29","author":"Du","year":"2019","journal-title":"Cell Metab."},{"key":"10.1016\/j.jgg.2026.02.003_bib14","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.ajhg.2008.08.013","article-title":"Optimized allotopic expression of the human mitochondrial prevents ness in a rat model of mitochondrial dysfunction","volume":"83","author":"Ellouze","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2026.02.003_bib15","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1126\/science.1147786","article-title":"A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations","volume":"319","author":"Fan","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.jgg.2026.02.003_bib16","doi-asserted-by":"crossref","first-page":"19292","DOI":"10.1074\/jbc.RA119.010598","article-title":"Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNASer(UCN) 7511A>G mutation","volume":"294","author":"Fan","year":"2019","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jgg.2026.02.003_bib17","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.molmed.2019.10.008","article-title":"Mitochondrial defects drive degenerative retinal diseases","volume":"26","author":"Ferrington","year":"2020","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.jgg.2026.02.003_bib18","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.abq1533","article-title":"Core mitochondrial genes are down-regulated during SARS-CoV-2 infection of rodent and human hosts","volume":"15","author":"Guarnieri","year":"2023","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.jgg.2026.02.003_bib19","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1167\/iovs.13-13365","article-title":"Retinal ganglion cell dysfunction in asymptomatic G11778A: leber hereditary optic neuropathy","volume":"55","author":"Guy","year":"2014","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.jgg.2026.02.003_bib20","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.freeradbiomed.2015.05.039","article-title":"Oxidative stress in inherited mitochondrial diseases","volume":"88","author":"Hayashi","year":"2015","journal-title":"Free Radic. Biol. Med."},{"key":"10.1016\/j.jgg.2026.02.003_bib21","doi-asserted-by":"crossref","first-page":"13224","DOI":"10.1074\/jbc.RA120.014603","article-title":"Complex I mutations synergize to worsen the phenotypic expression of Leber\u2019s hereditary optic neuropathy","volume":"295","author":"Ji","year":"2020","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jgg.2026.02.003_bib22","doi-asserted-by":"crossref","first-page":"9368","DOI":"10.1093\/nar\/gkac698","article-title":"Human TRUB1 is a highly conserved pseudouridine synthase responsible for the formation of \u03a855 in mitochondrial tRNAAsn, tRNAGln, tRNAGlu and tRNAPro","volume":"50","author":"Jia","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.jgg.2026.02.003_bib23","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1093\/hmg\/ddv498","article-title":"The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber\u2019s hereditary optic neuropathy-associated mitochondrial DNA mutation","volume":"25","author":"Jiang","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jgg.2026.02.003_bib24","doi-asserted-by":"crossref","first-page":"4778","DOI":"10.1167\/iovs.14-16158","article-title":"Prevalence of mitochondrial ND4 mutations in 1281 Han Chinese subjects with Leber\u2019s hereditary optic neuropathy","volume":"56","author":"Jiang","year":"2015","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.jgg.2026.02.003_bib25","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1167\/iovs.62.7.22","article-title":"Leber\u2019s hereditary optic neuropathy arising from the synergy between ND1 3635G>A mutation and mitochondrial YARS2 mutations","volume":"62","author":"Jin","year":"2021","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.jgg.2026.02.003_bib26","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbc.2021.100437","article-title":"An animal model for mitochondrial tyrosyl-tRNA synthetase deficiency reveals links between oxidative phosphorylation and retinal function","volume":"296","author":"Jin","year":"2021","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jgg.2026.02.003_bib27","first-page":"295","article-title":"Clinical spectrum of Leber\u2019s hereditary optic neuropathy","volume":"4","author":"Kerrison","year":"1997","journal-title":"Clin. Neurosci."},{"key":"10.1016\/j.jgg.2026.02.003_bib28","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1126\/science.aal5060","article-title":"Regenerating optic pathways from the eye to the brain","volume":"356","author":"Laha","year":"2017","journal-title":"Science"},{"key":"10.1016\/j.jgg.2026.02.003_bib29","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1042\/BJ20111451","article-title":"Autophagy, mitochondria and oxidative stress: cross-talk and redox signalling","volume":"441","author":"Lee","year":"2012","journal-title":"Biochem. J."},{"key":"10.1016\/j.jgg.2026.02.003_bib30","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/S1350-9462(02)00012-5","article-title":"Retinal ganglion cell disorders: types and treatments","volume":"21","author":"Levin","year":"2002","journal-title":"Prog. Retin. Eye Res."},{"key":"10.1016\/j.jgg.2026.02.003_bib31","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1167\/iovs.10-6138","article-title":"Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 Leber congenital amaurosis","volume":"52","author":"Li","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.jgg.2026.02.003_bib32","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1167\/iovs.13-13011","article-title":"Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber\u2019s hereditary optic neuropathy","volume":"55","author":"Liang","year":"2014","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.jgg.2026.02.003_bib33","doi-asserted-by":"crossref","first-page":"20065","DOI":"10.1073\/pnas.1217113109","article-title":"Mouse mtDNA mutant model of Leber hereditary optic neuropathy","volume":"109","author":"Lin","year":"2012","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jgg.2026.02.003_bib34","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1186\/s13059-014-0550-8","article-title":"Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2","volume":"15","author":"Love","year":"2014","journal-title":"Genome Biol."},{"key":"10.1016\/j.jgg.2026.02.003_bib35","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1080\/02713689808951221","article-title":"Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber\u2019s hereditary optic neuropathy","volume":"17","author":"Mashima","year":"1998","journal-title":"Curr. Eye Res."},{"key":"10.1016\/j.jgg.2026.02.003_bib36","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/j.neuron.2012.10.002","article-title":"The neuronal organization of the retina","volume":"76","author":"Masland","year":"2012","journal-title":"Neuron"},{"key":"10.1016\/j.jgg.2026.02.003_bib37","doi-asserted-by":"crossref","first-page":"2921","DOI":"10.1167\/iovs.12-9662","article-title":"The Rd8 mutation of the Crb1 gene is present in vendor lines of C57BL\/6N mice and embryonic stem cells, and confounds ocular induced mutant phenotypes","volume":"53","author":"Mattapallil","year":"2012","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.jgg.2026.02.003_bib38","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1016\/S0002-9394(14)76784-4","article-title":"The clinical characteristics of pedigrees of Leber\u2019s hereditary optic neuropathy with the 11778 mutation","volume":"111","author":"Newman","year":"1991","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.jgg.2026.02.003_bib39","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/S1474-4422(22)00174-0","article-title":"Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management","volume":"22","author":"Newman","year":"2023","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.jgg.2026.02.003_bib40","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.202013392","article-title":"Novel AAV capsids for intravitreal gene therapy of photoreceptor disorders","volume":"13","author":"Pavlou","year":"2021","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.jgg.2026.02.003_bib41","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1038\/nbt.3122","article-title":"StringTie enables improved reconstruction of a transcriptome from RNA-seq reads","volume":"33","author":"Pertea","year":"2015","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.jgg.2026.02.003_bib42","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.ophtha.2008.10.022","article-title":"Extremely low penetrance of Leber\u2019s hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation","volume":"116","author":"Qu","year":"2009","journal-title":"Ophthalmology"},{"key":"10.1016\/j.jgg.2026.02.003_bib43","doi-asserted-by":"crossref","first-page":"2008","DOI":"10.3324\/haematol.2017.182659","article-title":"The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2","volume":"103","author":"Riley","year":"2018","journal-title":"Haematologica"},{"issue":"Pt 2","key":"10.1016\/j.jgg.2026.02.003_bib44","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1093\/brain\/118.2.319","article-title":"The clinical features of Leber\u2019s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation","volume":"118","author":"Riordan-Eva","year":"1995","journal-title":"Brain"},{"key":"10.1016\/j.jgg.2026.02.003_bib45","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s11940-010-0100-y","article-title":"Leber\u2019s hereditary optic neuropathy","volume":"13","author":"Sadun","year":"2011","journal-title":"Curr. Treat. Options Neurol."},{"key":"10.1016\/j.jgg.2026.02.003_bib46","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2200549119","article-title":"Mitochondrial mutations alter endurance exercise response and determinants in mice","volume":"119","author":"Schaefer","year":"2022","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jgg.2026.02.003_bib47","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1016\/j.cell.2015.10.001","article-title":"Mitochondrial ROS signaling in organismal homeostasis","volume":"163","author":"Shadel","year":"2015","journal-title":"Cell"},{"key":"10.1016\/j.jgg.2026.02.003_bib48","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1093\/jn\/137.6.1493","article-title":"Total antioxidant capacity: appraisal of a concept","volume":"137","author":"Sies","year":"2007","journal-title":"J. Nutr."},{"key":"10.1016\/j.jgg.2026.02.003_bib49","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1038\/s41580-024-00730-2","article-title":"Fundamentals of redox regulation in biology","volume":"25","author":"Sies","year":"2024","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.jgg.2026.02.003_bib50","doi-asserted-by":"crossref","first-page":"e564","DOI":"10.3324\/haematol.2018.194464","article-title":"Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene","volume":"103","author":"Smith","year":"2018","journal-title":"Haematologica"},{"key":"10.1016\/j.jgg.2026.02.003_bib51","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.brainres.2016.12.019","article-title":"Bipolar cell reduction precedes retinal ganglion neuron loss in a complex 1 knockout mouse model","volume":"1657","author":"Song","year":"2017","journal-title":"Brain Res."},{"key":"10.1016\/j.jgg.2026.02.003_bib52","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1038\/nrm2312","article-title":"Apoptosis: controlled demolition at the cellular level","volume":"9","author":"Taylor","year":"2008","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.jgg.2026.02.003_bib53","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1146\/annurev.genet.39.110304.095751","article-title":"A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine","volume":"39","author":"Wallace","year":"2005","journal-title":"Annu. Rev. Genet."},{"key":"10.1016\/j.jgg.2026.02.003_bib54","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1007\/164_2017_2","article-title":"Leber hereditary optic neuropathy: exemplar of an mtDNA disease","volume":"240","author":"Wallace","year":"2017","journal-title":"Handb. Exp. Pharmacol."},{"key":"10.1016\/j.jgg.2026.02.003_bib55","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1126\/science.3201231","article-title":"Mitochondrial DNA mutation associated with Leber\u2019s hereditary optic neuropathy","volume":"242","author":"Wallace","year":"1988","journal-title":"Science"},{"key":"10.1016\/j.jgg.2026.02.003_bib56","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1146\/annurev-genet-102108-134850","article-title":"The role of mitochondria in apoptosis","volume":"43","author":"Wang","year":"2009","journal-title":"Annu. Rev. Genet."},{"key":"10.1016\/j.jgg.2026.02.003_bib57","article-title":"Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy","volume":"10","author":"Wang","year":"2024","journal-title":"JCI Insight"},{"key":"10.1016\/j.jgg.2026.02.003_bib58","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1186\/s12929-023-00951-1","article-title":"Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T>C mutation","volume":"30","author":"Wang","year":"2023","journal-title":"J. Biomed. Sci."},{"key":"10.1016\/j.jgg.2026.02.003_bib59","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1089\/hum.2022.109","article-title":"Identification of broadly applicable adeno-associated virus vectors by systematic comparison of commonly used capsid variants in vitro","volume":"33","author":"Weinmann","year":"2022","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.jgg.2026.02.003_bib60","doi-asserted-by":"crossref","first-page":"99","DOI":"10.2147\/EB.S9078","article-title":"Energy metabolism of the visual system","volume":"2","author":"Wong-Riley","year":"2010","journal-title":"Eye Brain"},{"key":"10.1016\/j.jgg.2026.02.003_bib61","article-title":"clusterProfiler 4.0: a universal enrichment tool for interpreting omics data","volume":"2","author":"Wu","year":"2021","journal-title":"Innovation"},{"key":"10.1016\/j.jgg.2026.02.003_bib62","doi-asserted-by":"crossref","first-page":"1956","DOI":"10.1038\/nprot.2014.134","article-title":"Generating genetically modified mice using CRISPR\/Cas-mediated genome engineering","volume":"9","author":"Yang","year":"2014","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.jgg.2026.02.003_bib63","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbc.2025.110464","article-title":"Leber\u2019s hereditary optic neuropathy-associated ND1 3733G>C mutation ameliorates the mitochondrial quality control and cellular homeostasis","volume":"301","author":"Yasheng","year":"2025","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jgg.2026.02.003_bib64","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.preteyeres.2006.05.002","article-title":"Leber\u2019s hereditary optic neuropathy: a multifactorial disease","volume":"25","author":"Yen","year":"2006","journal-title":"Prog. Retin. Eye Res."},{"key":"10.1016\/j.jgg.2026.02.003_bib65","doi-asserted-by":"crossref","first-page":"4935","DOI":"10.1172\/JCI134965","article-title":"PRICKLE3 linked to ATPase biogenesis manifested Leber\u2019s hereditary optic neuropathy","volume":"130","author":"Yu","year":"2020","journal-title":"J. Clin. Investig."},{"key":"10.1016\/j.jgg.2026.02.003_bib66","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1136\/jmg.2007.054270","article-title":"Inherited mitochondrial optic neuropathies","volume":"46","author":"Yu-Wai-Man","year":"2009","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.jgg.2026.02.003_bib67","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1001\/jamaophthalmol.2024.5375","article-title":"Five-year outcomes of lenadogene nolparvovec gene therapy in Leber hereditary optic neuropathy","volume":"143","author":"Yu-Wai-Man","year":"2025","journal-title":"JAMA Ophthalmol."},{"key":"10.1016\/j.jgg.2026.02.003_bib68","doi-asserted-by":"crossref","first-page":"210","DOI":"10.3390\/ijms23010210","article-title":"Mitochondrial retinopathies","volume":"23","author":"Zeviani","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.jgg.2026.02.003_bib69","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1167\/iovs.62.9.38","article-title":"Assocation between Leber\u2019s hereditary optic neuropathy and MT-ND1 3460G>A mutation-induced alterations in mitochondrial function, apoptosis, and mitophagy","volume":"62","author":"Zhang","year":"2021","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.jgg.2026.02.003_bib70","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.1074\/jbc.RA117.000317","article-title":"A hypertension-associated mitochondrial DNA mutation introduces an m1G37 modification into tRNAMet, altering its structure and function","volume":"293","author":"Zhou","year":"2018","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jgg.2026.02.003_bib71","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbc.2025.110334","article-title":"Mitochondrial tRNA processing defects reprogram mitochondrial and cellular homeostasis","volume":"301","author":"Zhu","year":"2025","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jgg.2026.02.003_bib72","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1038\/s41392-024-01839-8","article-title":"Mitochondrial dysfunction: mechanisms and advances in therapy","volume":"9","author":"Zong","year":"2024","journal-title":"Signal Transduct. Targeted Ther."}],"container-title":["Journal of Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852726000470?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852726000470?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T20:44:24Z","timestamp":1783457064000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1673852726000470"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":72,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["S1673852726000470"],"URL":"https:\/\/doi.org\/10.1016\/j.jgg.2026.02.003","relation":{},"ISSN":["1673-8527"],"issn-type":[{"value":"1673-8527","type":"print"}],"subject":[],"published":{"date-parts":[[2026,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Optic neuropathy arising from the synergy between YARS2 and mitochondrial COX1 mutations","name":"articletitle","label":"Article Title"},{"value":"Journal of Genetics and Genomics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jgg.2026.02.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Limited and Science Press.","name":"copyright","label":"Copyright"}]}}