Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation.

doi:10.1016/j.bbadis.2011.11.017

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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...

Topics

Amino Acid Sequence
Base Sequence
Biocatalysis
Cell-Free System
Chromatography, Gel
Chromatography, Liquid
DNA Primers
Glucose
Glucosyltransferases
Glycogen
Glycoproteins
Humans
Molecular Sequence Data
Mutation
Tandem Mass Spectrometry

Source

Open in PubMed

Identifiers

PMID: 22198226
DOI: 10.1016/j.bbadis.2011.11.017

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