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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2001-11-15
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pubmed:databankReference |
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pubmed:abstractText |
Muscle-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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1534-5807
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pubmed:author |
pubmed-author:EndoTT,
pubmed-author:HerrmannRR,
pubmed-author:InazuTT,
pubmed-author:KanoHH,
pubmed-author:KobayashiKK,
pubmed-author:ManyaHH,
pubmed-author:MitsuhashiHH,
pubmed-author:MizunoMM,
pubmed-author:StraubVV,
pubmed-author:TakahashiSS,
pubmed-author:TakeuchiMM,
pubmed-author:TalimBB,
pubmed-author:TaniguchiKK,
pubmed-author:TodaTT,
pubmed-author:TopalogluHH,
pubmed-author:VoitTT,
pubmed-author:YoshidaAA
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pubmed:issnType |
Print
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pubmed:volume |
1
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
717-24
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11709191-Amino Acid Sequence,
pubmed-meshheading:11709191-Base Sequence,
pubmed-meshheading:11709191-Blotting, Western,
pubmed-meshheading:11709191-Cell Line,
pubmed-meshheading:11709191-Cell Movement,
pubmed-meshheading:11709191-Child, Preschool,
pubmed-meshheading:11709191-Cloning, Molecular,
pubmed-meshheading:11709191-DNA Mutational Analysis,
pubmed-meshheading:11709191-Female,
pubmed-meshheading:11709191-Gene Expression,
pubmed-meshheading:11709191-Glycosyltransferases,
pubmed-meshheading:11709191-Humans,
pubmed-meshheading:11709191-Male,
pubmed-meshheading:11709191-Molecular Sequence Data,
pubmed-meshheading:11709191-Muscular Dystrophies,
pubmed-meshheading:11709191-Mutagenesis, Site-Directed,
pubmed-meshheading:11709191-N-Acetylglucosaminyltransferases,
pubmed-meshheading:11709191-Pedigree,
pubmed-meshheading:11709191-Phylogeny,
pubmed-meshheading:11709191-Point Mutation,
pubmed-meshheading:11709191-RNA, Messenger,
pubmed-meshheading:11709191-Sequence Homology, Amino Acid,
pubmed-meshheading:11709191-Substrate Specificity
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pubmed:year |
2001
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pubmed:articleTitle |
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
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pubmed:affiliation |
Central Laboratories for Key Technology, Kirin Brewery Co., Ltd., Kanazawa-ku, 236-0004, Yokohama, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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