Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease

@inproceedings{Voglmeir2011BiochemicalCO,
  title={Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease},
  author={Josef Voglmeir and Sara Kaloo and Nicolas Laurent and Marco M. Meloni and Lisa Bohlmann and Iain B H Wilson and Sabine L Flitsch},
  booktitle={The Biochemical journal},
  year={2011}
}
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 2.4.1.-) catalyses the transfer of N-acetylglucosamine to O-linked mannose of… CONTINUE READING
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