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Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

Hepatology(2020)10.1002/hep.31218Source: DataRank Database

Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease is a research paper published in Hepatology (2020). On theSindex it has a DataRank of 0. It has been cited 52 times.

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Open Access52 citations

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Enrichment:Funding (13 grants)OA: hybridTopics (46)IDs (PubMed, PMC)Annotations (1)SDGs (1)

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Findable (1/2)

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Accessible (1/2)

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Interoperable (0/2)

Reusable (0/3)

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Authors (28)

Laurie A. Graham ORCID,Angel Ashikov ORCID,Lars Elmann Larsen,Kimiyo Raymond ORCID,Sharita Timal

Live enrichment

PubMed:32145091 PMC:PMC7483274

Institut National de la Santé et de la Recherche Médicale

Grant: ATIP‐Avenir Program

NIH HHS

Grant: Grant GM 38006

Dutch Research Council (NWO)

Grant: Medium Investment Grant 40‐00506‐98‐9001

Dutch Research Council (NWO)

Grant: VIDI Grant 91713359

NIGMS NIH HHS

Grant: R01 GM038006

Dutch Research Council (NWO)

Grant: ZONMW‐NWO

Dutch Research Council (NWO)

Grant: 016.176.640

Agence Nationale de la Recherche

Grant: ANR‐10‐IAHU‐01

Agence Nationale de la Recherche

Grant: ANR‐14‐ACHN‐0013

National Institutes of Health

Grant: 5R01GM038006-08

SORTING AND TRANSPORT OF YEAST MEMBRANE PROTEINS

French National Research Agency (ANR)

Grant: ANR-14-ACHN-0013

Using Drosophila melanogaster to study hereditary kidney diseases

Fondation Bettencourt Schueller

Radboud Universitair Medisch Centrum

hybridLicense: CC BY NC ND

Europe_PMChttps://europepmc.org/articles/PMC7483274

Europe_PMChttps://europepmc.org/articles/PMC7483274?pdf=render

https://doi.org/10.1002/hep.31218

https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/hep.31218

https://pubmed.ncbi.nlm.nih.gov/32145091

Fields of Study

0301 basic medicine03 medical and health sciences0303 health sciences

MeSH Terms

LiverCells, CulturedFibroblastsHumansLiver DiseasesVacuolar Proton-Translocating ATPasesBiopsyPedigreeDNA Mutational AnalysisMutation, MissenseAdultAutophagyMaleCongenital Disorders of GlycosylationPrimary Cell Culture

Keywords

AdultMaleVacuolar Proton-Translocating ATPasesX-LINKED MYOPATHYBiopsyDNA Mutational AnalysisPrimary Cell CultureENDOPLASMIC-RETICULUMMutation, MissenseRadboud University Medical CenterCongenital Disorders of GlycosylationAutophagyHumansVACUOLAR MEMBRANECells, CulturedRadboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical NeuroscienceCHOLESTEROLLiver DiseasesRadboudumc 3: Disorders of movement DCMN: Donders Center for Medical NeuroscienceOriginal ArticlesFibroblastsTRANSPORTPedigreeDEFICIENCYLiverRadboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life SciencesGOLGI HOMEOSTASISENZYMES

Sustainable Development Goals

SDG 3: 3. Good health