ArticleHGG advances2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
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Article in HGG advances, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9citing papers in PubMed
–field-weighted citation impact
What it found
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Who cites it
9 citing papers in PubMed.
- ATP6V1B2 Regulating Autophagy Flux To Affect Abnormal Auditory Development.Applied biochemistry and biotechnology · 2026Article
- Nanoplastics impair antitumor NK and CD8⁺ T cell cytotoxicity and antiviral B cell antibody responses to SARS-CoV-2.Scientific reports · 2026Article
- VPS13B maintains lysosomal homeostasis through regulation of TFEB.Molecular brain · 2026Article
- Therapeutic potential of cAMP-mediated lysosomal pH modulation in ATP6V1B2-related neuropathology.Cell death discovery · 2026Article
- Integrated Multi-Omic Analysis Identifies Altered Colonic Brush Border Profile as a Key Feature of Microscopic Colitis.United European gastroenterology journal · 2026Article
- V-ATPase and Lysosomal Energy Sensing in Periodontitis and Medicine-Related Osteonecrosis of the Jaw.Biomolecules · 2025Review
- Integrated multiomics analysis identifies potential biomarkers and therapeutic targets for autophagy associated AKI to CKD transition.Scientific reports · 2025Article
- The Emerging Roles of Vacuolar-Type ATPase-Dependent Lysosomal Acidification in Cardiovascular Disease.Biomolecules · 2025Review
- Article
Corrections and comments
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Authors and funding
35 authors.
Giovanna CarpentieriMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Serena CecchettiConfocal Microscopy Unit, Core Facilities, Istituto Superiore di Sanità, 00161 Rome, Italy.
Gianfranco BocchinfusoDepartment of Chemical Science and Technologies, University of Rome Tor Vergata, 00133 Rome, Italy.
Francesca Clementina RadioMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Chiara LeoniCenter for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome 00168, Italy.
Roberta OnesimoCenter for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome 00168, Italy.
Paolo CalligariDepartment of Chemical Science and Technologies, University of Rome Tor Vergata, 00133 Rome, Italy.
Agostina PietrantoniElectron Microscopy Unit, Core Facilities, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
Andrea CiolfiMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Marco FerilliMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Cristina CalderanDepartment of Women and Children's Health, University of Padua, Fondazione Istituto di Ricerca Pediatrica Città della Speranza, 35127 Padua, Italy.
Gerarda CappuccioDepartment of Translational Medicine, "Federico II" University, 80131 Naples, Italy.
Simone MartinelliDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Elena MessinaMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Viviana CaputoDepartment of Experimental Medicine, Sapienza University of Rome, 00185 Rome, Italy.
Ulrike HüffmeierInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
Cyril MignotDepartment of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hopitaux de Paris, Sorbonne University, Paris, France.
Stéphane AuvinService de Neurologie Pediatrique, Hopital Universitaire Robert Debré, Université Paris Cité, 75935 Paris, France.
Yline CapriDepartment of Genetics, Robert-Debré University Hospital, Assistance Publique-Hopitaux de Paris, 75935 Paris, France.
Charles Marques LourencoFaculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto 14096-160, São Paulo, Brazil.
Bianca E RussellInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Ahna NeustadInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Nicola Brunetti PierriDepartment of Translational Medicine, "Federico II" University, 80131 Naples, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Scuola Superiore Meridionale, Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.
Boris KerenDepartment of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hopitaux de Paris, Sorbonne University, Paris, France.
André ReisInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
Julie S CohenDepartment of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Alexis HeidlebaughDepartment of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Clay SmithDepartment of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Christian T ThielInstitute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg FAU, 91054 Erlangen, Germany.
Leonardo SalviatiDepartment of Women and Children's Health, University of Padua, Fondazione Istituto di Ricerca Pediatrica Città della Speranza, 35127 Padua, Italy.
Giuseppe ZampinoCenter for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome 00168, Italy; Facoltà di Medicina e Chirurgia, Università Cattolica del S. Cuore, 00168 Rome, Italy.
Philippe M CampeauDepartment of Pediatrics, Université de Montréal, Montréal, QC, Canada.
Lorenzo StellaDepartment of Chemical Science and Technologies, University of Rome Tor Vergata, 00133 Rome, Italy.
Marco TartagliaMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net.
Elisabetta FlexDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy. Electronic address: elisabetta.flex@iss.it.
Funding
Sleep and Circadian Dysfunction, Brain and Neurobehavioral Development in AutismP50HD103538 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI Stewart H Mostofsky · 2020 to 2026
$9.9MGLIA-CTN Genomic Expert Curation PanelU24NS131172 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI VANDERVER, ADELINE LUCIE · 2023 to 2025
$1.1MNICHD NIH HHS P50 HD103538NINDS NIH HHS U24 NS131172
Abstract
The vacuolar H
Indexed as
AutophagosomesLysosomesPhenotypeVacuolar Proton-Translocating ATPasesDeafnessFemaleHumansIntellectual DisabilityMaleATP6V1B2 protein, humanVacuolar Proton-Translocating ATPasesATP6V1B2ATP6V1C1autophagyDDOD syndromeDOORS syndromelysosomeneurodevelopmental disorderpleiotropyvacuolar ATPaseZimmermann-Laband syndrome
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.