Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage

CONTEXT: Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle. Glycogenin-2 has been suggested as an alternative primer for glycogen synthesis in pa...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Visuttijai, Kittichate, Hedberg-Oldfors, Carola, Thomsen, Christer, Glamuzina, Emma, Kornblum, Cornelia, Tasca, Giorgio, Hernandez-Lain, Aurelio, Sandstedt, Joakim, Dellgren, Göran, Roach, Peter, Oldfors, Anders
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
Assuntos:
Clinical Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7046021/
https://ncbi.nlm.nih.gov/pubmed/31628455
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgz075
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