Article
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.
Biochemical and biophysical research communications - 20 Jun 2003
Manya Hiroshi, Sakai Keiwa, Kobayashi Kazuhiro, Taniguchi Kiyomi, Kawakita Masao, Toda Tatsushi, Endo Tamao
Abstract excerpt
Muscle-eye-brain disease (MEB), an autosomal recessive disorder, is characterized by congenital muscular dystrophy, brain malformation, and ocular abnormalities. Previously, we found that MEB is caused by mutations in the gene encoding the protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1), which is responsible for the formation of the GlcNAcbeta1-2Man linkage of O-mannosyl glycan....
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