ArticleThe Journal of experimental medicine2017
Mutations in the X-linked
Open access · bronzeAbstract read
In one paragraph
Article in The Journal of experimental medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
0numbers the graph read from it
0cells of the map it votes in
55citing papers in PubMed
3.5field-weighted citation impact, top 6% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
55 citing papers in PubMed, 85 citations in OpenAlex.
- A mycobacterial Sec61 inhibitor disrupts lysosome function by blocking Vacuolar-ATPase biosynthesis.European journal of cell biology · 2026Article
- Targeting lysosomal pH restores mitochondrial quality control in GBA1-mutant Parkinson's disease.Translational neurodegeneration · 2026Article
- ATP6V1B2 alleviates hepatic steatosis by promoting lysosomal acidification in hepatocytes.Cell death discovery · 2026Article
- The lactate sensor NDRG3 decelerates ER-to-Golgi transport through interaction with the long isoform of syntaxin-5.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Endosomal Mechanisms in Heart Failure Pathophysiology.Current heart failure reports · 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
- Association and functional study ofWorld journal of psychiatry · 2025Article
- An update on autophagy disorders.Journal of inherited metabolic disease · 2025Review
- Vacuolar HJournal of cellular physiology · 2025Article
- Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.HGG advances · 2024Article
- Functional overlap of inborn errors of immunity and metabolism genes defines T cell metabolic vulnerabilities.Science immunology · 2024Article
- Dmxl1 Is an Essential Mammalian Gene that Is Required for V-ATPase Assembly and Function In Vivo.Function (Oxford, England) · 2024Article
- Plasma exosomes impair microglial degradation of α-synuclein through V-ATPase subunit V1G1.CNS neuroscience & therapeutics · 2024Article
- Targeting the High-Density Lipoprotein Proteome for the Treatment of Post-Acute Sequelae of SARS-CoV-2.International journal of molecular sciences · 2024Article
- Emerging role of lipophagy in liver disorders.Molecular and cellular biochemistry · 2024Review
- Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.Human molecular genetics · 2023Article
- Cellular senescence triggers intracellular acidification and lysosomal pH alkalinized via ATP6AP2 attenuation in breast cancer cells.Communications biology · 2023Article
- Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (International journal of molecular sciences · 2023Article
- Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.Journal of inherited metabolic disease · 2023Article
Corrections and comments
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Authors and funding
27 authors at 15 institutions in 6 countries.
Maria A RujanoLaboratory of Epithelial Biology and Disease, Imagine Institute, Paris, France.ORCID http://orcid.org/0000-0002-6859-3418
Magda Cannata SerioLaboratory of Epithelial Biology and Disease, Imagine Institute, Paris, France.ORCID http://orcid.org/0000-0002-2084-3406
Ganna PanasyukInstitut Necker-Enfants Malades, Paris, France.
Romain PéanneUniversity of Leuven (KU Leuven), Center for Human Genetics, Leuven, Belgium.ORCID http://orcid.org/0000-0001-6077-4620
Janine ReunertUniversitätsklinikum Münster, Klinik für Kinder- und Jugendmedizin, Münster, Germany.
Daisy RymenUniversity of Leuven (KU Leuven), Center for Human Genetics, Leuven, Belgium.ORCID http://orcid.org/0000-0001-6628-3910
Virginie HauserLaboratory of Epithelial Biology and Disease, Imagine Institute, Paris, France.
Julien H ParkUniversitätsklinikum Münster, Klinik für Kinder- und Jugendmedizin, Münster, Germany.ORCID http://orcid.org/0000-0003-2305-9948
Peter FreisingerKreiskliniken Reutlingen, Klinik für Kinder- und Jugendmedizin, Klinikum am Steinenberg, Reutlingen, Germany.
Erika SoucheUniversity of Leuven (KU Leuven), Center for Human Genetics, Leuven, Belgium.ORCID http://orcid.org/0000-0001-9184-445X
Maria Clara GuidaLaboratory of Epithelial Biology and Disease, Imagine Institute, Paris, France.
Esther M MaierDr. von Haunersches Kinderspital der Universität München, München, Germany.
Yoshinao WadaOsaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Stefanie JägerDepartment of Cellular and Molecular Pharmacology, University of California, San Francisco, San Francisco, CA.
Nevan J KroganDepartment of Cellular and Molecular Pharmacology, University of California, San Francisco, San Francisco, CA.
Oliver KretzCentre for Biological Signaling Studies BIOSS, University of Freiburg, Freiburg, Germany.
Susana NobreMetabolic Reference Center, Coimbra University Hospital Center, Coimbra, Portugal.ORCID http://orcid.org/0000-0001-6749-8681
Paula GarciaMetabolic Reference Center, Coimbra University Hospital Center, Coimbra, Portugal.ORCID http://orcid.org/0000-0002-6847-745X
Dulce QuelhasBiochemical Genetics Unit, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto, Abel Salazar Institute of Biomedical Sciences, University of Porto, Porto, Portugal.
Thomas D BirdDepartment of Neurology, University of Washington, Seattle, WA.
Wendy H RaskindDepartment of Medicine, University of Washington, Seattle, WA.ORCID http://orcid.org/0000-0001-8141-9054
Michael SchwakeFaculty of Chemistry/Biochemistry III, University Bielefeld, Bielefeld, Germany.
Sandrine DuvetUniversité Lille, Centre National de la Recherche Scientifique UMR 8576, Unité de Glycobiologie Structurale et Fonctionnelle, Lille, France.
Francois FoulquierUniversité Lille, Centre National de la Recherche Scientifique UMR 8576, Unité de Glycobiologie Structurale et Fonctionnelle, Lille, France.
Gert MatthijsUniversity of Leuven (KU Leuven), Center for Human Genetics, Leuven, Belgium.
Thorsten MarquardtUniversitätsklinikum Münster, Klinik für Kinder- und Jugendmedizin, Münster, Germany.
Matias SimonsLaboratory of Epithelial Biology and Disease, Imagine Institute, Paris, France matias.simons@institutimagine.org.ORCID http://orcid.org/0000-0003-3959-6350
KU Leuven · BEDélégation Paris 5 · FRInserm · FRKlinik und Poliklinik für Kinder- und Jugendmedizin · DEUnité de Glycobiologie Structurale et Fonctionnelle · FRUniversity of California, San Francisco · USUniversity of Coimbra · PTBielefeld University · DEKreiskliniken Reutlingen · DEMünchen Klinik · DEOsaka International Cancer Institute · JPUnited States Department of Veterans Affairs · USUniversidade do Porto · PTUniversity of Freiburg · DEUniversity of Washington · US
Funding
Next Generation gene discovery in neurogeneticsR01NS069719 · NINDS · UNIVERSITY OF WASHINGTON · PI RASKIND, WENDY H · 2010 to 2019
$5.0MNINDS NIH HHS R01 NS069719
Abstract
The biogenesis of the multi-subunit vacuolar-type H
Indexed as
AutophagyGenes, X-LinkedAdolescentAmino Acid SequenceAnimalsBase SequenceBlood ProteinsBrainCutis LaxaDrosophila melanogasterDrosophila ProteinsEndoplasmic Reticulum-Associated DegradationFibroblastsGlycosylationHumansInfantATP6AP2 protein, DrosophilaATP6AP2 protein, humanATP6AP2 protein, mouseBlood ProteinsDrosophila ProteinsLipidsMembrane ProteinsProrenin ReceptorProton-Translocating ATPasesReceptors, Cell SurfaceVacuolar Proton-Translocating ATPases
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-SA
Read underepoch 390
Registered trials
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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.