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Article

A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase.

Biochimica et biophysica acta. General subjects - 1 Jan 2017

Maile C A, Hingst J R, Mahalingan K K, O'Reilly A O, Cleasby M E, Mickelson J R, McCue M E, Anderson S M, Hurley T D, Wojtaszewski J F P, Piercy R J

Abstract excerpt

BACKGROUND: Equine type 1 polysaccharide storage myopathy (PSSM1) is associated with a missense mutation (R309H) in the glycogen synthase (GYS1) gene, enhanced glycogen synthase (GS) activity and excessive glycogen and amylopectate inclusions in muscle. METHODS: Equine muscle biochemical and recombinant enzyme kinetic assays in vitro and homology modelling in silico, were used to investigate the hypothesis that...

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Identifiers

PMID: 27592162
DOI: 10.1016/j.bbagen.2016.08.021
PMCID: PMC5148651

Genes

GYS1

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