GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation
GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation
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Author / Creator
Franzka, Patricia , Henze, Henriette , Jung, M. Juliane , Schüler, Svenja Caren , Mittag, Sonnhild , Biskup, Karina , Liebmann, Lutz , Kentache, Takfarinas , Morales, José , Martínez, Braulio , Katona, Istvan , Herrmann, Tanja , Huebner, Antje-Kathrin , Hennings, J. Christopher , Groth, Susann , Gresing, Lennart , Horstkorte, Rüdiger , Marquardt, Thorsten , Weis, Joachim , Kaether, Christoph , Mutchinick, Osvaldo M. , Ori, Alessandro , Huber, Otmar , Blanchard, Véronique , von Maltzahn, Julia and Hübner, Christian A.
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
GDP-mannose-pyrophosphorylase-B (GMPPB) facilitates the generation of GDP-mannose, a sugar donor required for glycosylation. GMPPB defects cause muscle disease due to hypoglycosylation of α-dystroglycan (α-DG). Alpha-DG is part of a protein complex, which links the extracellular matrix with the cytoskeleton, thus stabilizing myofibers. Mutations of...
Alternative Titles
Full title
GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation
Authors, Artists and Contributors
Author / Creator
Henze, Henriette
Jung, M. Juliane
Schüler, Svenja Caren
Mittag, Sonnhild
Biskup, Karina
Liebmann, Lutz
Kentache, Takfarinas
Morales, José
Martínez, Braulio
Katona, Istvan
Herrmann, Tanja
Huebner, Antje-Kathrin
Hennings, J. Christopher
Groth, Susann
Gresing, Lennart
Horstkorte, Rüdiger
Marquardt, Thorsten
Weis, Joachim
Kaether, Christoph
Mutchinick, Osvaldo M.
Ori, Alessandro
Huber, Otmar
Blanchard, Véronique
von Maltzahn, Julia
Hübner, Christian A.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8087212
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8087212
Other Identifiers
ISSN
1558-8238,0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI139076
