Glycogen Synthesis in Glycogenin 1–Deficient Patients: A Role for Glycogenin 2 in Muscle | Zendy

Thomas Krag | Zendy; Cristina RuizRuiz | Zendy; John Vissing | Zendy

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Glycogen Synthesis in Glycogenin 1–Deficient Patients: A Role for Glycogenin 2 in Muscle

Author(s) -

Thomas Krag,

Cristina RuizRuiz,

John Vissing

Publication year - 2017

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/jc.2017-00399

Subject(s) - glycogen , glycogen debranching enzyme , glycogen branching enzyme , glycogen synthase , medicine , endocrinology , skeletal muscle , glycogen storage disease , biology , gene isoform , biochemistry , gene

Glycogen storage disease (GSD) type XV is a rare disease caused by mutations in the GYG1 gene that codes for the core molecule of muscle glycogen, glycogenin 1. Nonetheless, glycogen is present in muscles of glycogenin 1-deficient patients, suggesting an alternative for glycogen buildup. A likely candidate is glycogenin 2, an isoform expressed in the liver and heart but not in healthy skeletal muscle.

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