{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T06:23:16Z","timestamp":1790662996777,"version":"4.1.0"},"reference-count":38,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2022,6,9]],"date-time":"2022-06-09T00:00:00Z","timestamp":1654732800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100011102","name":"EU 7th Framework Programme","doi-asserted-by":"publisher","award":["N602531"],"award-info":[{"award-number":["N602531"]}],"id":[{"id":"10.13039\/100011102","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009888","name":"Regione Toscana","doi-asserted-by":"publisher","award":["DECODE-EE"],"award-info":[{"award-number":["DECODE-EE"]}],"id":[{"id":"10.13039\/501100009888","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100015694","name":"Fondazione Cassa di Risparmio di Firenze","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100015694","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009702","name":"IRCCS Ospedale Policlinico San Martino","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009702","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ricerca Corrente"},{"name":"Health Innovation Challenge Fund","award":["HICF-1009-003"],"award-info":[{"award-number":["HICF-1009-003"]}]},{"DOI":"10.13039\/100004440","name":"Wellcome","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Department of Health"},{"name":"Wellcome Sanger Institute","award":["WT098051"],"award-info":[{"award-number":["WT098051"]}]},{"name":"UK Research Ethics Committee"},{"name":"Cambridge South REC","award":["10\/H0305\/83"],"award-info":[{"award-number":["10\/H0305\/83"]}]},{"name":"Republic of Ireland REC","award":["GEN\/284\/12"],"award-info":[{"award-number":["GEN\/284\/12"]}]},{"name":"DECIPHER"},{"name":"ISTplus fellowship"},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,8,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Vacuolar-type H+-ATPase (V-ATPase) is a multimeric complex present in a variety of cellular membranes that acts as an ATP-dependent proton pump and plays a key role in pH homeostasis and intracellular signalling pathways. In humans, 22 autosomal genes encode for a redundant set of subunits allowing the composition of diverse V-ATPase complexes with specific properties and expression. Sixteen subunits have been linked to human disease.<\/jats:p>\n               <jats:p>Here we describe 26 patients harbouring 20 distinct pathogenic de novo missense ATP6V1A variants, mainly clustering within the ATP synthase \u03b1\/\u03b2 family-nucleotide-binding domain. At a mean age of 7 years (extremes: 6 weeks, youngest deceased patient to 22 years, oldest patient) clinical pictures included early lethal encephalopathies with rapidly progressive massive brain atrophy, severe developmental epileptic encephalopathies and static intellectual disability with epilepsy. The first clinical manifestation was early hypotonia, in 70%; 81% developed epilepsy, manifested as developmental epileptic encephalopathies in 58% of the cohort and with infantile spasms in 62%; 63% of developmental epileptic encephalopathies failed to achieve any developmental, communicative or motor skills. Less severe outcomes were observed in 23% of patients who, at a mean age of 10 years and 6 months, exhibited moderate intellectual disability, with independent walking and variable epilepsy. None of the patients developed communicative language. Microcephaly (38%) and amelogenesis imperfecta\/enamel dysplasia (42%) were additional clinical features. Brain MRI demonstrated hypomyelination and generalized atrophy in 68%. Atrophy was progressive in all eight individuals undergoing repeated MRIs.<\/jats:p>\n               <jats:p>Fibroblasts of two patients with developmental epileptic encephalopathies showed decreased LAMP1 expression, Lysotracker staining and increased organelle pH, consistent with lysosomal impairment and loss of V-ATPase function. Fibroblasts of two patients with milder disease, exhibited a different phenotype with increased Lysotracker staining, decreased organelle pH and no significant modification in LAMP1 expression. Quantification of substrates for lysosomal enzymes in cellular extracts from four patients revealed discrete accumulation. Transmission electron microscopy of fibroblasts of four patients with variable severity and of induced pluripotent stem cell-derived neurons from two patients with developmental epileptic encephalopathies showed electron-dense inclusions, lipid droplets, osmiophilic material and lamellated membrane structures resembling phospholipids. Quantitative assessment in induced pluripotent stem cell-derived neurons identified significantly smaller lysosomes.<\/jats:p>\n               <jats:p>ATP6V1A-related encephalopathy represents a new paradigm among lysosomal disorders. It results from a dysfunctional endo-lysosomal membrane protein causing altered pH homeostasis. Its pathophysiology implies intracellular accumulation of substrates whose composition remains unclear, and a combination of developmental brain abnormalities and neurodegenerative changes established during prenatal and early postanal development, whose severity is variably determined by specific pathogenic variants.<\/jats:p>","DOI":"10.1093\/brain\/awac145","type":"journal-article","created":{"date-parts":[[2022,4,19]],"date-time":"2022-04-19T19:22:01Z","timestamp":1650396121000},"page":"2687-2703","source":"Crossref","is-referenced-by-count":37,"title":["Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis"],"prefix":"10.1093","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7272-7079","authenticated-orcid":false,"given":"Renzo","family":"Guerrini","sequence":"first","affiliation":[{"name":"Neuroscience Department, Children's Hospital Meyer, University of Florence , Florence , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Mei","sequence":"additional","affiliation":[{"name":"Neuroscience Department, Children's Hospital Meyer, University of Florence , Florence , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katalin","family":"Kerti-Szigeti","sequence":"additional","affiliation":[{"name":"Institute of Science and Technology Austria (ISTA) , Klosterneuburg , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Pepe","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, University of Genoa , Italy"},{"name":"Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia , Genova , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Kay","family":"Koenig","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Child and Adolescent Neurology, The University of Texas McGovern Medical School , Houston, TX , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gretchen","family":"Von Allmen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Child and Adolescent Neurology, The University of Texas McGovern Medical School , Houston, TX , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan T","family":"Cho","sequence":"additional","affiliation":[{"name":"GeneDx , Gaithersburg, MD 20877 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly","family":"McDonald","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, University of Mississippi Medical Center , Jackson, MS , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice","family":"Baker","sequence":"additional","affiliation":[{"name":"Genetics and Genomics, Children's Minnesota , Minneapolis, MN , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikas","family":"Bhambhani","sequence":"additional","affiliation":[{"name":"Genetics and Genomics, Children's Minnesota , Minneapolis, MN , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z\u00f6e","family":"Powis","sequence":"additional","affiliation":[{"name":"Ambry Genetics , Aliso Viejo, CA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lance","family":"Rodan","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics and Department of Neurology, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rima","family":"Nabbout","sequence":"additional","affiliation":[{"name":"Reference Centre for Rare Epilepsies, Department of Genetics, Necker Enfants Malades Hospital, APHP, member of ERN EpiCARE, Universit\u00e9 de Paris , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Barcia","sequence":"additional","affiliation":[{"name":"Reference Centre for Rare Epilepsies, Department of Genetics, Necker Enfants Malades Hospital, APHP, member of ERN EpiCARE, Universit\u00e9 de Paris , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5664-7987","authenticated-orcid":false,"given":"Jill A","family":"Rosenfeld","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, Texas , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos A","family":"Bacino","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, Texas , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Mignot","sequence":"additional","affiliation":[{"name":"APHP, Sorbonne Universit\u00e9, D\u00e9part\u00e9ment de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence D\u00e9ficiences Intellectuelles de Causes Rares , Paris , France"},{"name":"Institut du Cerveau (ICM), UMR S 1127, Inserm U1127, CNRS UMR 7225, Sorbonne Universit\u00e9 , 75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lillian H","family":"Power","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Stead Family Department of Pediatrics, University of Iowa Stead Family Children\u2019s Hospital , Iowa City, IA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catharine J","family":"Harris","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, University of Missouri Medical Center , Columbia, MO 65212 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dragan","family":"Marjanovic","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Centre Filadelfia, Adult Neurology , Dianalund , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rikke S","family":"M\u00f8ller","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center Filadelfia , Dianalund , Denmark"},{"name":"Department of Regional Health Services, University of Southern Denmark , Odense , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trine B","family":"Hammer","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center Filadelfia , Dianalund , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The DDD Study","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riikka","family":"Keski Filppula","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu , Oulu , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u00e4ivi","family":"Vieira","sequence":"additional","affiliation":[{"name":"Clinic for Children and Adolescents, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu , Oulu , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Hildebrandt","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Metabolism Program, Boston Children's Hospital , Boston, MA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Sacharow","sequence":"additional","affiliation":[{"name":"Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Undiagnosed Diseases Network","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Maragliano","sequence":"additional","affiliation":[{"name":"Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia , Genova , Italy"},{"name":"Department of Life and Environmental Sciences, Polytechnic University of Marche , Ancona , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0653-8368","authenticated-orcid":false,"given":"Fabio","family":"Benfenati","sequence":"additional","affiliation":[{"name":"Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia , Genova , Italy"},{"name":"IRCCS Ospedale Policlinico San Martino , Genova , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Lachlan","sequence":"additional","affiliation":[{"name":"Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust , Southampton , UK"},{"name":"Human Development and Health, Faculty of Medicine University of Southampton , Southampton , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Benneche","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Haukeland University Hospital , Bergen , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Petit","sequence":"additional","affiliation":[{"name":"CHU Lille, Clinique de G\u00e9n\u00e9tique , F-59000 Lille , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Madeleine","family":"de Sainte Agathe","sequence":"additional","affiliation":[{"name":"Laboratoire de Biologie M\u00e9dicale Multi Sites SeqOIA, Laboratoire de M\u00e9decine G\u00e9nomique, APHP. Sorbonne Universit\u00e9 , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Hallinan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Cincinnati College of Medicine , Cincinnati, OH , USA"},{"name":"Division of Child Neurology, Cincinnati Children's Hospital Medical Center , Cincinnati, OH , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Si","sequence":"additional","affiliation":[{"name":"GeneDx , Gaithersburg, MD 20877 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid M","family":"Wentzensen","sequence":"additional","affiliation":[{"name":"GeneDx , Gaithersburg, MD 20877 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanggeng","family":"Zou","sequence":"additional","affiliation":[{"name":"GeneDx , Gaithersburg, MD 20877 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinodh","family":"Narayanan","sequence":"additional","affiliation":[{"name":"Neurogenomics Division, Center for Rare Childhood Disorders, Translational Genomics Research Institute (TGen) , Phoenix, AZ 85012 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9846-6500","authenticated-orcid":false,"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Boncristiano","sequence":"additional","affiliation":[{"name":"Neuroscience Department, Children's Hospital Meyer, University of Florence , Florence , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"la Marca","sequence":"additional","affiliation":[{"name":"Newborn Screening, Clinical Chemistry and Pharmacology Laboratory, Meyer Children\u2019s University Hospital , Florence , Italy"},{"name":"Department of Experimental and Clinical Biomedical Sciences, University of Florence , Florence , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Showa University School of Medicine and Epilepsy Medical Center, Showa University Hospital , Tokyo , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Anderson","sequence":"additional","affiliation":[{"name":"Founder and Research Liaison, \u2018ATP6V1A Families' Facebook group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5445-5842","authenticated-orcid":false,"given":"Carmen","family":"Barba","sequence":"additional","affiliation":[{"name":"Neuroscience Department, Children's Hospital Meyer, University of Florence , Florence , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Sturiale","sequence":"additional","affiliation":[{"name":"CNR, Institute for Polymers, Composites and Biomaterials, IPCB , 95126 Catania , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Garozzo","sequence":"additional","affiliation":[{"name":"CNR, Institute for Polymers, Composites and Biomaterials, IPCB , 95126 Catania , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Bei","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Translational Medicine, University of Rome \u2018Tor Vergata' , Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"ATP6V1A collaborators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Masuelli","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, University of Rome \u2018Sapienza' , Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerio","family":"Conti","sequence":"additional","affiliation":[{"name":"Neuroscience Department, Children's Hospital Meyer, University of Florence , Florence , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaia","family":"Novarino","sequence":"additional","affiliation":[{"name":"Institute of Science and Technology Austria (ISTA) , Klosterneuburg , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Fassio","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, University of Genoa , Italy"},{"name":"IRCCS Ospedale Policlinico San Martino , Genova , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,6,9]]},"reference":[{"key":"2024022415153791600_awac145-B1","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":"2024022415153791600_awac145-B2","doi-asserted-by":"crossref","first-page":"3680","DOI":"10.1074\/jbc.M114.611210","article-title":"Activity of plasma membrane V-ATPases is critical for the invasion of MDA-MB231 breast cancer cells","volume":"290","author":"Cotter","year":"2015","journal-title":"J Biol Chem"},{"key":"2024022415153791600_awac145-B3","doi-asserted-by":"crossref","first-page":"2561","DOI":"10.1007\/s00018-015-1886-2","article-title":"The membrane domain of vacuolar H(+)ATPase: a crucial player in neurotransmitter exocytotic release","volume":"72","author":"Morel","year":"2015","journal-title":"Cell Mol Life Sci"},{"key":"2024022415153791600_awac145-B4","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1016\/j.celrep.2017.07.040","article-title":"The presynaptic v-ATPase reversibly disassembles and thereby modulates exocytosis but is not part of the fusion machinery","volume":"20","author":"Bodz\u0119ta","year":"2017","journal-title":"Cell Rep"},{"key":"2024022415153791600_awac145-B5","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.ajhg.2016.12.010","article-title":"Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa","volume":"100","author":"Van Damme","year":"2017","journal-title":"Am J Hum Genet"},{"key":"2024022415153791600_awac145-B6","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1002\/jimd.12341","article-title":"Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa","volume":"44","author":"Vogt","year":"2021","journal-title":"J Inherit Metab Dis"},{"key":"2024022415153791600_awac145-B7","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1093\/brain\/awy092","article-title":"De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy","volume":"141","author":"Fassio","year":"2018","journal-title":"Brain"},{"key":"2024022415153791600_awac145-B8","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1038\/ejhg.2015.186","article-title":"Novel genetic causes for cerebral visual impairment","volume":"24","author":"Bosch","year":"2016","journal-title":"Eur J Hum Genet"},{"key":"2024022415153791600_awac145-B9","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/nature21062","article-title":"Prevalence and architecture of de novo mutations in developmental disorders","volume":"542","author":"Deciphering Developmental Disorders Study","year":"2017","journal-title":"Nature"},{"key":"2024022415153791600_awac145-B10","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1038\/s41588-018-0294-6","article-title":"A map of constrained coding regions in the human genome","volume":"51","author":"Havrilla","year":"2019","journal-title":"Nat Genet"},{"key":"2024022415153791600_awac145-B11","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/j.matbio.2015.11.004","article-title":"V-type ATPase proton pump expression during enamel formation","volume":"52-54","author":"Sarkar","year":"2016","journal-title":"Matrix Biol"},{"key":"2024022415153791600_awac145-B12","doi-asserted-by":"crossref","first-page":"3328","DOI":"10.1002\/jcb.25986","article-title":"V-ATPases containing a3 subunit play a direct role in enamel development in mice","volume":"118","author":"Johnson","year":"2017","journal-title":"J Cell Biochem"},{"key":"2024022415153791600_awac145-B13","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1016\/j.bbrc.2009.10.032","article-title":"Reconstitution in vitro of the catalytic portion (NtpA3-B3-D-G complex) of Enterococcus hirae V-type Na+-ATPase","volume":"390","author":"Arai","year":"2009","journal-title":"Biochem Biophys Res Commun"},{"key":"2024022415153791600_awac145-B14","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/nature14365","article-title":"Electron cryomicroscopy observation of rotational states in a eukaryotic V-ATPase","volume":"521","author":"Zhao","year":"2015","journal-title":"Nature"},{"key":"2024022415153791600_awac145-B15","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1126\/science.aaz2924","article-title":"Structure of V-ATPase from the mammalian brain","volume":"367","author":"Abbas","year":"2020","journal-title":"Science"},{"key":"2024022415153791600_awac145-B16","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.arr.2016.05.004","article-title":"Disorders of lysosomal acidification\u2013the emerging role of v-ATPase in aging and neurodegenerative disease","volume":"32","author":"Colacurcio","year":"2016","journal-title":"Ageing Res Rev"},{"key":"2024022415153791600_awac145-B17","doi-asserted-by":"crossref","first-page":"2145","DOI":"10.1172\/JCI79990","article-title":"ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration","volume":"129","author":"Hirose","year":"2019","journal-title":"J Clin Invest"},{"key":"2024022415153791600_awac145-B18","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":"2024022415153791600_awac145-B19","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1016\/j.ajhg.2019.04.008","article-title":"Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification","volume":"104","author":"Nicoli","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2024022415153791600_awac145-B20","doi-asserted-by":"crossref","first-page":"172","DOI":"10.3389\/fncel.2014.00172","article-title":"An inside job: how endosomal Na(+)\/H(+) exchangers link to autism and neurological disease","volume":"8","author":"Kondapalli","year":"2014","journal-title":"Front Cell Neurosci"},{"key":"2024022415153791600_awac145-B21","doi-asserted-by":"crossref","first-page":"1785","DOI":"10.1373\/clinchem.2004.035907","article-title":"Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening","volume":"50","author":"Li","year":"2004","journal-title":"Clin Chem"},{"key":"2024022415153791600_awac145-B22","doi-asserted-by":"crossref","first-page":"2067","DOI":"10.1373\/clinchem.2008.115410","article-title":"Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I","volume":"54","author":"Blanchard","year":"2008","journal-title":"Clin Chem"},{"key":"2024022415153791600_awac145-B23","doi-asserted-by":"crossref","first-page":"e51031","DOI":"10.7554\/eLife.51031","article-title":"Impaired lysosomal acidification triggers iron deficiency and inflammation in vivo","volume":"8","author":"Yambire","year":"2019","journal-title":"eLife"},{"key":"2024022415153791600_awac145-B24","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/s41572-018-0025-4","article-title":"Lysosomal storage diseases","volume":"4","author":"Platt","year":"2018","journal-title":"Nat Rev Dis Primers"},{"key":"2024022415153791600_awac145-B25","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/ng.2007.45","article-title":"Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2","volume":"40","author":"Kornak","year":"2008","journal-title":"Nat Genet"},{"key":"2024022415153791600_awac145-B26","doi-asserted-by":"crossref","first-page":"4654","DOI":"10.3390\/ijms21134654","article-title":"Sugary logistics gone wrong: membrane trafficking and congenital disorders of glycosylation","volume":"21","author":"Linders","year":"2020","journal-title":"Int J Mol Sci"},{"key":"2024022415153791600_awac145-B27","doi-asserted-by":"crossref","first-page":"3707","DOI":"10.1084\/jem.20170453","article-title":"Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects","volume":"214","author":"Rujano","year":"2017","journal-title":"J Exp Med"},{"key":"2024022415153791600_awac145-B28","doi-asserted-by":"crossref","first-page":"30610","DOI":"10.18632\/oncotarget.25753","article-title":"Serum N-glycome alterations in colorectal cancer associate with survival","volume":"9","author":"de Vroome","year":"2018","journal-title":"Oncotarget"},{"key":"2024022415153791600_awac145-B29","doi-asserted-by":"crossref","first-page":"8655","DOI":"10.1038\/s41598-018-26805-7","article-title":"Plasma N-glycans in colorectal cancer risk","volume":"8","author":"Doherty","year":"2018","journal-title":"Sci Rep"},{"key":"2024022415153791600_awac145-B30","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.2337\/db12-0880","article-title":"Mutations in HNF1A result in marked alterations of plasma glycan profile","volume":"62","author":"Thanabalasingham","year":"2013","journal-title":"Diabetes"},{"key":"2024022415153791600_awac145-B31","doi-asserted-by":"crossref","DOI":"10.1074\/mcp.M110.004200","article-title":"Human plasma glycome in attention-deficit hyperactivity disorder and autism spectrum disorders","volume":"10","author":"Pivac","year":"2011","journal-title":"Mol Cell Proteomics"},{"key":"2024022415153791600_awac145-B32","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1093\/glycob\/cwx034","article-title":"Biological functions of fucose in mammals","volume":"27","author":"Schneider","year":"2017","journal-title":"Glycobiology"},{"key":"2024022415153791600_awac145-B33","doi-asserted-by":"crossref","first-page":"2646","DOI":"10.1093\/hmg\/dds089","article-title":"Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis","volume":"21","author":"Bras","year":"2012","journal-title":"Hum Mol Genet"},{"key":"2024022415153791600_awac145-B34","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1038\/s41586-020-1968-7","article-title":"ATP13A2 deficiency disrupts lysosomal polyamine export","volume":"578","author":"van Veen","year":"2020","journal-title":"Nature"},{"key":"2024022415153791600_awac145-B35","doi-asserted-by":"crossref","first-page":"2067","DOI":"10.1093\/hmg\/ddt057","article-title":"Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited \u03b1-synuclein accumulation and age-dependent sensorimotor deficits","volume":"22","author":"Schultheis","year":"2013","journal-title":"Hum Mol Genet"},{"key":"2024022415153791600_awac145-B36","doi-asserted-by":"crossref","first-page":"e39942","DOI":"10.1371\/journal.pone.0039942","article-title":"Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism","volume":"7","author":"Podhajska","year":"2012","journal-title":"PLoS ONE"},{"key":"2024022415153791600_awac145-B37","doi-asserted-by":"crossref","first-page":"3785","DOI":"10.1093\/hmg\/dds206","article-title":"Identification of novel ATP13A2 interactors and their role in \u03b1-synuclein misfolding and toxicity","volume":"21","author":"Usenovic","year":"2012","journal-title":"Hum Mol Genet"},{"key":"2024022415153791600_awac145-B38","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.neuron.2020.11.002","article-title":"Transformative network modeling of multi-omics data reveals detailed circuits, key regulators, and potential therapeutics for Alzheimer\u2019s disease","volume":"109","author":"Wang","year":"2021","journal-title":"Neuron"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/145\/8\/2687\/56752596\/awac145.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/145\/8\/2687\/56752596\/awac145.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,24]],"date-time":"2024-02-24T15:16:40Z","timestamp":1708787800000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/145\/8\/2687\/6604410"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,9]]},"references-count":38,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2022,6,9]]},"published-print":{"date-parts":[[2022,8,27]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awac145","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2022,8,1]]},"published":{"date-parts":[[2022,6,9]]}}}