GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation

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 cyto...

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Vydáno v:J Clin Invest
Hlavní autoři: 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, Hübner, Christian A.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2021
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8087212/
https://ncbi.nlm.nih.gov/pubmed/33755596
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI139076
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