PubMed:11709191 JSONTXT

{"project":"ggdb-test","denotations":[{"id":"T1","span":{"begin":97,"end":104},"obj":"https://acgg.asia/db/ggdb/info/gg123"},{"id":"T2","span":{"begin":521,"end":528},"obj":"https://acgg.asia/db/ggdb/info/gg123"},{"id":"T3","span":{"begin":634,"end":641},"obj":"https://acgg.asia/db/ggdb/info/gg123"}],"text":"Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.\nMuscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly. Mammalian O-mannosyl glycosylation is a rare type of protein modification that is observed in a limited number of glycoproteins of brain, nerve, and skeletal muscle. Here we isolated a human cDNA for protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGnT1), which participates in O-mannosyl glycan synthesis. We also identified six independent mutations of the POMGnT1 gene in six patients with MEB. Expression of most frequent mutation revealed a great loss of the enzymatic activity. These findings suggest that interference in O-mannosyl glycosylation is a new pathomechanism for muscular dystrophy as well as neuronal migration disorder."}

{"project":"GGDB-2020","denotations":[{"id":"T1","span":{"begin":97,"end":104},"obj":"https://acgg.asia/db/ggdb/info/gg123"},{"id":"T2","span":{"begin":521,"end":528},"obj":"https://acgg.asia/db/ggdb/info/gg123"},{"id":"T3","span":{"begin":634,"end":641},"obj":"https://acgg.asia/db/ggdb/info/gg123"}],"text":"Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.\nMuscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly. Mammalian O-mannosyl glycosylation is a rare type of protein modification that is observed in a limited number of glycoproteins of brain, nerve, and skeletal muscle. Here we isolated a human cDNA for protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGnT1), which participates in O-mannosyl glycan synthesis. We also identified six independent mutations of the POMGnT1 gene in six patients with MEB. Expression of most frequent mutation revealed a great loss of the enzymatic activity. These findings suggest that interference in O-mannosyl glycosylation is a new pathomechanism for muscular dystrophy as well as neuronal migration disorder."}

{"project":"glycogenes","denotations":[{"id":"PD-GlycoGenes20190927-B_T1","span":{"begin":97,"end":104},"obj":"https://acgg.asia/db/ggdb/info/gg123"},{"id":"PD-GlycoGenes20190927-B_T2","span":{"begin":521,"end":528},"obj":"https://acgg.asia/db/ggdb/info/gg123"},{"id":"PD-GlycoGenes20190927-B_T3","span":{"begin":634,"end":641},"obj":"https://acgg.asia/db/ggdb/info/gg123"}],"text":"Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.\nMuscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly. Mammalian O-mannosyl glycosylation is a rare type of protein modification that is observed in a limited number of glycoproteins of brain, nerve, and skeletal muscle. Here we isolated a human cDNA for protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGnT1), which participates in O-mannosyl glycan synthesis. We also identified six independent mutations of the POMGnT1 gene in six patients with MEB. Expression of most frequent mutation revealed a great loss of the enzymatic activity. These findings suggest that interference in O-mannosyl glycosylation is a new pathomechanism for muscular dystrophy as well as neuronal migration disorder."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"11709191-4#52#59#gene55624","span":{"begin":634,"end":641},"obj":"gene55624"},{"id":"11709191-4#86#89#diseaseC0457133","span":{"begin":668,"end":671},"obj":"diseaseC0457133"}],"relations":[{"id":"52#59#gene5562486#89#diseaseC0457133","pred":"associated_with","subj":"11709191-4#52#59#gene55624","obj":"11709191-4#86#89#diseaseC0457133"}],"text":"Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.\nMuscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly. Mammalian O-mannosyl glycosylation is a rare type of protein modification that is observed in a limited number of glycoproteins of brain, nerve, and skeletal muscle. Here we isolated a human cDNA for protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGnT1), which participates in O-mannosyl glycan synthesis. We also identified six independent mutations of the POMGnT1 gene in six patients with MEB. Expression of most frequent mutation revealed a great loss of the enzymatic activity. These findings suggest that interference in O-mannosyl glycosylation is a new pathomechanism for muscular dystrophy as well as neuronal migration disorder."}