ArticleAmerican journal of human genetics2017
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Erratum issuedOpen access · bronzeAbstract read
In one paragraph
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 56 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
56citing papers in PubMed, 2 pooled it
11.2field-weighted citation impact, top 1% of its field
What it found
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Who cites it
56 citing papers in PubMed, 2 syntheses or guidelines pooled it, 113 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Journal of inherited metabolic disease · 2017Pooled it
- V-ATPase-targeted siRNA library screening reveals ATP6V1A negatively regulates UVB-induced keratinocyte senescence.Biology direct · 2026Article
- Differential Expression of ATP6V1D and Its Diagnostic Potential in IgA Nephropathy.Current medical science · 2025Article
- The Expanding Genetic Architecture of Arteriopathies: From Canonical TAAD Genes to Emerging Connective Tissue and Signaling Pathways.Medical sciences (Basel, Switzerland) · 2025Review
- V-ATPase and Lysosomal Energy Sensing in Periodontitis and Medicine-Related Osteonecrosis of the Jaw.Biomolecules · 2025Review
- Oxr1 and Ncoa7 regulate V-ATPase to achieve optimal pH for glycosylation within the Golgi apparatus and trans-Golgi network.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Prime editing outperforms homology-directed repair as a tool for CRISPR-mediated variant knock-in in zebrafish.Lab animal · 2025Article
- Article
- Lysosomal dysfunction and inflammatory sterol metabolism in pulmonary arterial hypertension.Science (New York, N.Y.) · 2025Article
- Analysis of Complexome Profiles with the Gaussian Interaction Profiler (GIP) Reveals Novel Protein Complexes inJournal of proteome research · 2024Article
- Review
- Functional overlap of inborn errors of immunity and metabolism genes defines T cell metabolic vulnerabilities.Science immunology · 2024Article
- Molecular mechanism of Oxr1p mediated disassembly of yeast V-ATPase.EMBO reports · 2024Article
- Extracellular matrix in skin diseases: The road to new therapies.Journal of advanced research · 2023Review
- ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.Brain : a journal of neurology · 2023Article
- Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.Journal of inherited metabolic disease · 2023Article
- Article
- Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.Physiological reviews · 2023Review
- First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.American journal of medical genetics. Part A · 2022Review
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
41 authors at 15 institutions in 7 countries.
Tim Van DammeCenter for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
Thatjana GardeitchikDepartment of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Miski MohamedDepartment of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Sergio Guerrero-CastilloRadboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Peter FreisingerChildrens' Hospital, Klinikum am Steinenberg, Reutlingen 72764, Germany.
Brecht GuillemynCenter for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
Ariana KariminejadKariminejad-Najmabadi Pathology & Genetics Center, Tehran 14656, Iran.
Daisy DalloyauxDepartment of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Sanne van KraaijDepartment of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Dirk J LefeberTranslational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Department of Neurology, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Delfien SyxCenter for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
Wouter SteyaertCenter for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
Riet De RyckeDepartment of Biomedical Molecular Biology, Ghent University, Ghent 9000, Belgium; Inflammation Research Center, VIB, Ghent 9000, Belgium.
Alexander HoischenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Erik-Jan KamsteegDepartment of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Sunnie Y WongHayward Genetics Center, Tulane University Medical School, New Orleans, LA 70112, USA.
Monique van ScherpenzeelTranslational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Department of Neurology, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Payman JamaliShahrood Genetic Counseling Center, Semnan 36156, Iran.
Ulrich BrandtRadboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Leo NijtmansRadboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
G Christoph KorenkeDepartment of Neuropediatrics, Children's Hospital Klinikum Oldenburg, Oldenburg 26133, Germany.
Brian H Y ChungDepartment of Paediatrics & Adolescent Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China.
Christopher C Y MakDepartment of Paediatrics & Adolescent Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China.
Ingrid HausserInstitute of Pathology, Universitätsklinikum Heidelberg, Heidelberg 69120, Germany.
Uwe KornakInstitute of Medical Genetics and Human Genetics, Charité - Universitaetsmedizin Berlin, Berlin 13353, Germany; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany.
Björn Fischer-ZirnsakInstitute of Medical Genetics and Human Genetics, Charité - Universitaetsmedizin Berlin, Berlin 13353, Germany; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany.
Tim M StromInstitute of Human Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany.
Thomas MeitingerInstitute of Human Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany.
Yasemin AlanayPediatric Genetics Unit, Department of Pediatrics, Acibadem University School of Medicine, Istanbul 34752, Turkey.
Gulen E UtinePediatric Genetics Unit, Department of Pediatrics, Ihsan Doğramacı Children's Hospital, Hacettepe School of Medicine, Ankara 06100, Turkey.
Peter K C LeungDepartment of Paediatrics & Adolescent Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China.
Siavash Ghaderi-SohiKariminejad-Najmabadi Pathology & Genetics Center, Tehran 14656, Iran.
Paul CouckeCenter for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
Sofie SymoensCenter for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
Anne De PaepeCenter for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
Christian ThielCenter for Child and Adolescent Medicine, Klinik Kinderheilkunde I, Universitätsklinikum Heidelberg, Heidelberg 69120, Germany.
Tobias B HaackInstitute of Human Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany; Institute of Human Genetics, Technische Universität München, Munich 81675, Germany; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.
Fransiska MalfaitCenter for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium.
Eva MoravaHayward Genetics Center, Tulane University Medical School, New Orleans, LA 70112, USA; Department of Pediatrics, University Hospital Leuven, Leuven 3000, Belgium.
Bert CallewaertCenter for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium. Electronic address: bert.callewaert@ugent.be.
Ron A WeversTranslational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands. Electronic address: ron.wevers@radboudumc.nl.
Ghent University Hospital · BERadboud University Nijmegen · NLRadboud University Medical Center · NLUniversity of Hong Kong · HKHeidelberg University · DEHelmholtz Zentrum München · DEIsfahan Fertility and Infertility Center · IRTulane University · USAcıbadem University · TRCharité - Universitätsmedizin Berlin · DEKlinikum Oldenburg · DEKreiskliniken Reutlingen · DEMax Planck Institute for Molecular Genetics · DETechnical University of Munich · DEVIB-UGent Center for Inflammation Research · BE
Funding
No grant is acknowledged in the PubMed record.
Abstract
Defects of the V-type proton (H
Indexed as
Mutation, MissenseAdolescentAllelesAmino Acid SequenceCase-Control StudiesChildCutis LaxaFemaleFibroblastsGene Expression RegulationGenome-Wide Association StudyGlycosylationGolgi ApparatusHumansInfantInfant, NewbornATP6V1A protein, humanATP6V1E2 protein, humanVacuolar Proton-Translocating ATPasesARCL2ATP6V1AATP6V1E1autosomal recessiveCDGcellular traffickingcongenital disorder of glycosylationcutis laxaGolgi apparatusV-ATPase
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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.