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

Kittichate Visuttijai | Zendy; Carola HedbergOldfors | Zendy; Christer Thomsen | Zendy; Emma Glamuzina | Zendy; Cornelia Kornblum | Zendy; Giorgio Tasca | Zendy; Aurelio HernándezLaín | Zendy; Joakim Sandstedt | Zendy; Göran Dellgren | Zendy; Peter J. Roach | Zendy; Anders Oldfors | Zendy

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

Author(s) -

Kittichate Visuttijai,

Carola HedbergOldfors,

Christer Thomsen,

Emma Glamuzina,

Cornelia Kornblum,

Giorgio Tasca,

Aurelio HernándezLaín,

Joakim Sandstedt,

Göran Dellgren,

Peter J. Roach,

Anders Oldfors

Publication year - 2019

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/clinem/dgz075

Subject(s) - glycogen , skeletal muscle , glycogen synthase , glycogen debranching enzyme , medicine , endocrinology , biology , biochemistry

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 patients with glycogenin-1 deficiency.

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