Article
Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation.
Biochimica et biophysica acta - 1 Apr 2012
Nilsson Johanna, Halim Adnan, Moslemi Ali-Reza, Pedersen Anders, Nilsson Jonas, Larson Göran, Oldfors Anders
Abstract excerpt
Glycogenin-1 initiates the glycogen synthesis in skeletal muscle by the autocatalytic formation of a short oligosaccharide at tyrosine 195. Glycogenin-1 catalyzes both the glucose-O-tyrosine linkage and the α1,4 glucosidic bonds linking the glucose molecules in the oligosaccharide. We recently described a patient with glycogen depletion in skeletal muscle as a result of a non-functional glycogenin-1. The patient...
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