D025262Chemicals & DrugsD08.811.277.040.025.325.875D08.811.913.696.650.150.500.875D12.776.157.530.450.250.875.500.875D12.776.543.585.450.250.875.500.87516190.987409Vacuolar Proton-Translocating ATPasesprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:meshTreeNumberMeSH tree numberprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:positionInDepartmentposition in departmentprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierDepartmentvivo:hrJobTitleHR job titleInformation Resourcevivo:linkAnchorTextlink anchor textPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlevivo:researchAreaOfresearch area ofvivo:subjectAreaForsubject area forURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonEcology and Evolution29668857Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V, C4RCD Research Group, Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini RBrain : a journal of neurologyDe novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. Brain. 2018 06 01; 141(6):1703-1718.Brain2018-06-01T00:00:002018De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.WilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR 0.5748640.022986716research area of0.9366250.032449616subject area for35675510Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB, DDD Study, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S, Undiagnosed Diseases Network, Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R, ATP6V1A collaborators, Masuelli L, Conti V, Novarino G, Fassio ABrain : a journal of neurologyPhenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Brain. 2022 08 27; 145(8):2687-2703.Brain2022-08-27T00:00:002022Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.36074901Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB, Genomics England Research Consortium, Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg ABrain : a journal of neurologyATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain. 2023 04 19; 146(4):1357-1372.Brain2023-04-19T00:00:002023ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.http://www.thorntonlab.orgThornton Lab websiteHuman GeneticsNeurologyUniversity of ChicagoJosephThorntonJoseph Thornton41.78927490000000-87.601250000000001722Thornton, JosephProfessorJamesTaoJames Tao41.78927490000000-87.601250000000002145Tao, JamesProfessorCancer BiologySimonHaywardSimon Hayward41.7886000000000087.598699999999994469Hayward, SimonJean Ruggles Romoser Chair of Cancer Research31409893Nardi F, Fitchev P, Brooks KM, Franco OE, Cheng K, Hayward SW, Welte MA, Crawford SELaboratory investigation; a journal of technical methods and pathologyLipid droplet velocity is a microenvironmental sensor of aggressive tumors regulated by V-ATPase and PEDF. Lab Invest. 2019 12; 99(12):1822-1834.Lab Invest2019-08-13T00:00:002019Lipid droplet velocity is a microenvironmental sensor of aggressive tumors regulated by V-ATPase and PEDF.LucaMaraglianoLuca Maragliano41.78927490000000-87.6012500000000065Maragliano, Lucatrue1true1Jean Ruggles Romoser Chair of Cancer ResearchJean Ruggles Romoser Chair of Cancer Researchtrue1ProfessorProfessortrue1PROFESSOR PROFESSOR true1ProfessorProfessor22230956Finnigan GC, Hanson-Smith V, Stevens TH, Thornton JWNatureEvolution of increased complexity in a molecular machine. Nature. 2012 Jan 09; 481(7381):360-4.Nature2012-01-09T00:00:002012Evolution of increased complexity in a molecular machine.