{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T18:47:19Z","timestamp":1786992439965,"version":"build-2736575974"},"reference-count":41,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100020205","name":"Health and Family Planning Commission of Jiangxi Province","doi-asserted-by":"publisher","award":["M2022067"],"award-info":[{"award-number":["M2022067"]}],"id":[{"id":"10.13039\/501100020205","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008233","name":"School of Medicine, Shanghai Jiao Tong University","doi-asserted-by":"publisher","award":["JYYC013"],"award-info":[{"award-number":["JYYC013"]}],"id":[{"id":"10.13039\/501100008233","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271157"],"award-info":[{"award-number":["82271157"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011493","name":"Taizhou City People's Government","doi-asserted-by":"publisher","award":["TZ202505"],"award-info":[{"award-number":["TZ202505"]}],"id":[{"id":"10.13039\/501100011493","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020737","name":"Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases","doi-asserted-by":"publisher","award":["14DZ2260300"],"award-info":[{"award-number":["14DZ2260300"]}],"id":[{"id":"10.13039\/100020737","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017962","name":"Jiangsu Commission of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017962","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":[[2026,5]]},"DOI":"10.1016\/j.jgg.2026.01.005","type":"journal-article","created":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T16:13:09Z","timestamp":1768320789000},"page":"841-853","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["ATP6V1C1 deficiency impairs auditory and vestibular hair cell function and leads to sensorineural hearing loss in humans and mice"],"prefix":"10.1016","volume":"53","author":[{"given":"Qingyue","family":"Yuan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4791-1760","authenticated-orcid":false,"given":"Jun","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingyu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4005-8015","authenticated-orcid":false,"given":"Hu","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-3780-7601","authenticated-orcid":false,"given":"Ningning","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaofei","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1296-5163","authenticated-orcid":false,"given":"Xiuhong","family":"Pang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6011-987X","authenticated-orcid":false,"given":"Tao","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jgg.2026.01.005_bib1","doi-asserted-by":"crossref","first-page":"2107","DOI":"10.1038\/s41467-021-22389-5","article-title":"ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice","volume":"12","author":"Aoto","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.jgg.2026.01.005_bib2","article-title":"Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and\/or autophagosome function","volume":"5","author":"Carpentieri","year":"2024","journal-title":"HGG Adv."},{"key":"10.1016\/j.jgg.2026.01.005_bib3","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1038\/gim.2016.142","article-title":"A dominant variant in DMXL2 is linked to nonsyndromic hearing loss","volume":"19","author":"Chen","year":"2017","journal-title":"Genet. Med."},{"key":"10.1016\/j.jgg.2026.01.005_bib4","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1111\/cge.14620","article-title":"The p. S178L mutation in Tbc1d24 disrupts endosome-mediated synaptic vesicle trafficking of cochlear hair cells and leads to hearing impairment in mice","volume":"107","author":"Chen","year":"2025","journal-title":"Clin. Genet."},{"key":"10.1016\/j.jgg.2026.01.005_bib5","doi-asserted-by":"crossref","first-page":"6934","DOI":"10.3390\/ijms22136934","article-title":"The V-ATPase a3 subunit: structure, function and therapeutic potential of an essential biomolecule in osteoclastic bone resorption","volume":"22","author":"Chu","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.jgg.2026.01.005_bib6","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/S0378-5955(03)00108-4","article-title":"Mice lacking the B1 subunit of H+ -ATPase have normal hearing","volume":"180","author":"Dou","year":"2003","journal-title":"Hear. Res."},{"key":"10.1016\/j.jgg.2026.01.005_bib7","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1038\/nrm2272","article-title":"Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology","volume":"8","author":"Forgac","year":"2007","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.jgg.2026.01.005_bib8","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1038\/s43587-025-00860-y","article-title":"mRNA metabolism regulator human antigen R (HuR) regulates age-related hearing loss in aged mice","volume":"5","author":"Guo","year":"2025","journal-title":"Nat. Aging"},{"key":"10.1016\/j.jgg.2026.01.005_bib9","doi-asserted-by":"crossref","first-page":"4341","DOI":"10.1080\/15548627.2021.1916194","article-title":"FOXG1 promotes aging inner ear hair cell survival through activation of the autophagy pathway","volume":"17","author":"He","year":"2021","journal-title":"Autophagy"},{"key":"10.1016\/j.jgg.2026.01.005_bib10","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1002\/emmm.201201527","article-title":"A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule","volume":"4","author":"Hennings","year":"2012","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.jgg.2026.01.005_bib11","doi-asserted-by":"crossref","DOI":"10.1016\/j.bbrc.2024.149551","article-title":"A pH imbalance is linked to autophagic dysregulation of inner ear hair cells in Atp6v1ba-deficient zebrafish","volume":"699","author":"Ikeuchi","year":"2024","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.jgg.2026.01.005_bib12","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/S0005-2728(99)00096-1","article-title":"Targeted disruption of the gene encoding the proteolipid subunit of mouse vacuolar H+-ATPase leads to early embryonic lethality","volume":"1413","author":"Inoue","year":"1999","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.jgg.2026.01.005_bib13","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2021.698190","article-title":"RAVE and Rabconnectin-3 complexes as signal dependent regulators of organelle acidification","volume":"9","author":"Jaskolka","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.jgg.2026.01.005_bib14","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1038\/5022","article-title":"Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness","volume":"21","author":"Karet","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.jgg.2026.01.005_bib15","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1038\/nature03418","article-title":"Hair cell synaptic ribbons are essential for synchronous auditory signalling","volume":"434","author":"Khimich","year":"2005","journal-title":"Nature"},{"key":"10.1016\/j.jgg.2026.01.005_bib16","doi-asserted-by":"crossref","DOI":"10.15252\/embj.2018100116","article-title":"Endophilin-A regulates presynaptic Ca2+ influx and synaptic vesicle recycling in auditory hair cells","volume":"38","author":"Kroll","year":"2019","journal-title":"EMBO J."},{"key":"10.1016\/j.jgg.2026.01.005_bib17","first-page":"434","article-title":"Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear","volume":"6","author":"Lorente-C\u00e1novas","year":"2013","journal-title":"Dis. Model. Mech."},{"key":"10.1016\/j.jgg.2026.01.005_bib18","doi-asserted-by":"crossref","first-page":"7007","DOI":"10.1038\/ncomms8007","article-title":"Autophagosome-lysosome fusion is independent of V-ATPase-mediated acidification","volume":"6","author":"Mauvezin","year":"2015","journal-title":"Nat. Commun."},{"key":"10.1016\/j.jgg.2026.01.005_bib19","doi-asserted-by":"crossref","first-page":"666","DOI":"10.4161\/auto.7.6.15812","article-title":"V-ATPase engagement in autophagic processes","volume":"7","author":"Mijaljica","year":"2011","journal-title":"Autophagy"},{"key":"10.1016\/j.jgg.2026.01.005_bib20","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.cell.2010.01.028","article-title":"Methods in mammalian autophagy research","volume":"140","author":"Mizushima","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.jgg.2026.01.005_bib21","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1007\/s10162-012-0317-4","article-title":"Atoh1, an essential transcription factor in neurogenesis and intestinal and inner ear development: function, regulation, and context dependency","volume":"13","author":"Mulvaney","year":"2012","journal-title":"J. Assoc. Res. Otolaryngol."},{"key":"10.1016\/j.jgg.2026.01.005_bib22","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1523\/JNEUROSCI.3313-13.2014","article-title":"Modes and regulation of endocytic membrane retrieval in mouse auditory hair cells","volume":"34","author":"Neef","year":"2014","journal-title":"J. Neurosci."},{"key":"10.1016\/j.jgg.2026.01.005_bib23","doi-asserted-by":"crossref","first-page":"13775","DOI":"10.1073\/pnas.1204257109","article-title":"Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype","volume":"109","author":"Norgett","year":"2012","journal-title":"Proc. Natl. Acad. Sci. U. S. A"},{"key":"10.1016\/j.jgg.2026.01.005_bib24","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1002\/pro.3147","article-title":"Breaking up and making up: the secret life of the vacuolar H+ -ATPase","volume":"26","author":"Oot","year":"2017","journal-title":"Protein Sci."},{"key":"10.1016\/j.jgg.2026.01.005_bib25","article-title":"DMXL2 is required for endocytosis and recycling of synaptic vesicles in auditory hair cells","volume":"44","author":"Peng","year":"2024","journal-title":"J. Neurosci."},{"key":"10.1016\/j.jgg.2026.01.005_bib26","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2021.742714","article-title":"Syndromic deafness gene ATP6V1B2 controls degeneration of spiral ganglion neurons through modulating proton flux","volume":"9","author":"Qiu","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.jgg.2026.01.005_bib27","doi-asserted-by":"crossref","DOI":"10.1242\/dmm.048997","article-title":"Loss of vacuolar-type H+-ATPase induces caspase-independent necrosis-like death of hair cells in zebrafish neuromasts","volume":"14","author":"Santra","year":"2021","journal-title":"Dis. Model. Mech."},{"key":"10.1016\/j.jgg.2026.01.005_bib28","doi-asserted-by":"crossref","first-page":"26185","DOI":"10.1074\/jbc.M703627200","article-title":"RAVE is essential for the efficient assembly of the C subunit with the vacuolar H+-ATPase","volume":"282","author":"Smardon","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jgg.2026.01.005_bib29","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/79208","article-title":"Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing","volume":"26","author":"Smith","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.jgg.2026.01.005_bib30","doi-asserted-by":"crossref","first-page":"1862","DOI":"10.1038\/s43587-025-00896-0","article-title":"Single-cell profiling identifies hair cell SLC35F1 deficiency as a signature of primate cochlear aging","volume":"5","author":"Sun","year":"2025","journal-title":"Nat. Aging"},{"key":"10.1016\/j.jgg.2026.01.005_bib31","first-page":"180","article-title":"Single-cell transcriptomic atlas of mouse cochlear aging","volume":"14","author":"Sun","year":"2023","journal-title":"Protein Cell"},{"key":"10.1016\/j.jgg.2026.01.005_bib32","doi-asserted-by":"crossref","first-page":"3722","DOI":"10.1093\/hmg\/ddx257","article-title":"Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts","volume":"26","author":"Tian","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jgg.2026.01.005_bib33","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1016\/j.ajhg.2020.07.013","article-title":"Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa","volume":"107","author":"Van Damme","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2026.01.005_bib34","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.10988","article-title":"A synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells","volume":"4","author":"Vincent","year":"2015","journal-title":"Elife"},{"key":"10.1016\/j.jgg.2026.01.005_bib35","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1074\/jbc.M406797200","article-title":"The V-ATPase subunit C binds to polymeric F-actin as well as to monomeric G-actin and induces cross-linking of actin filaments","volume":"280","author":"Vitavska","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jgg.2026.01.005_bib36","doi-asserted-by":"crossref","first-page":"18499","DOI":"10.1074\/jbc.M212844200","article-title":"A novel role for subunit C in mediating binding of the H+-V-ATPase to the actin cytoskeleton","volume":"278","author":"Vitavska","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jgg.2026.01.005_bib37","doi-asserted-by":"crossref","DOI":"10.1002\/bies.202200251","article-title":"Tender love and disassembly: how a TLDc domain protein breaks the V-ATPase","volume":"45","author":"Wilkens","year":"2023","journal-title":"Bioessays"},{"key":"10.1016\/j.jgg.2026.01.005_bib38","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1038\/cr.2014.77","article-title":"De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome","volume":"24","author":"Yuan","year":"2014","journal-title":"Cell Res."},{"key":"10.1016\/j.jgg.2026.01.005_bib39","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1002\/humu.22558","article-title":"A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment","volume":"35","author":"Zhang","year":"2014","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jgg.2026.01.005_bib40","doi-asserted-by":"crossref","first-page":"5169","DOI":"10.1523\/JNEUROSCI.21-14-05169.2001","article-title":"Stages of synapse development defined by dependence on F-actin","volume":"21","author":"Zhang","year":"2001","journal-title":"J. Neurosci."},{"key":"10.1016\/j.jgg.2026.01.005_bib41","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1080\/15548627.2022.2062872","article-title":"Increased mitophagy protects cochlear hair cells from aminoglycoside-induced damage","volume":"19","author":"Zhang","year":"2023","journal-title":"Autophagy"}],"container-title":["Journal of Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852726000184?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852726000184?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T15:26:32Z","timestamp":1783178792000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1673852726000184"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5]]},"references-count":41,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["S1673852726000184"],"URL":"https:\/\/doi.org\/10.1016\/j.jgg.2026.01.005","relation":{},"ISSN":["1673-8527"],"issn-type":[{"value":"1673-8527","type":"print"}],"subject":[],"published":{"date-parts":[[2026,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"ATP6V1C1 deficiency impairs auditory and vestibular hair cell function and leads to sensorineural hearing loss in humans and mice","name":"articletitle","label":"Article Title"},{"value":"Journal of Genetics and Genomics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jgg.2026.01.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Limited and Science Press. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}