Article
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
The Biochemical journal - 1 Jun 2011
Voglmeir Josef, Kaloo Sara, Laurent Nicolas, Meloni Marco M, Bohlmann Lisa, Wilson Iain B H, Flitsch Sabine L
Abstract excerpt
Congenital muscular dystrophies have a broad spectrum of genotypes and phenotypes and there is a need for a better biochemical understanding of this group of diseases in order to aid diagnosis and treatment. Several mutations resulting in these diseases cause reduced O-mannosyl glycosylation of glycoproteins, including α-dystroglycan. The enzyme POMGnT1 (protein-O-mannose N-acetylglucosaminyltransferase 1; EC...
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