Document Detail

Fukutin and alpha-dystroglycanopathies.
MedLine Citation:
PMID:  16550916     Owner:  NLM     Status:  MEDLINE    
Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We identified the gene for FCMD and MEB, which encodes the fukutin protein and the protein O-linked mannose beta1, 2-N-acetylglucosaminyltransferase (POMGnT1), respectively. Recent studies have revealed that posttranslational modification of alpha-dystroglycan is associated with these congenital muscular dystrophies with brain malformations. All are characterized by hypoglycosylated alpha-dystroglycan. Fukutin's function and the relation with other alpha-dystroglycanopathies are discussed.
T Toda; T Chiyonobu; H Xiong; M Tachikawa; K Kobayashi; H Manya; S Takeda; M Taniguchi; H Kurahashi; T Endo
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases     Volume:  24     ISSN:  1128-2460     ISO Abbreviation:  Acta Myol     Publication Date:  2005 Oct 
Date Detail:
Created Date:  2006-03-22     Completed Date:  2006-04-21     Revised Date:  2008-10-09    
Medline Journal Info:
Nlm Unique ID:  9811169     Medline TA:  Acta Myol     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  60-3     Citation Subset:  IM    
Division of Clinical Genetics, Department of Medical Genetics, Osaka University Graduate School of Medicine, Japan.
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MeSH Terms
Membrane Proteins
Muscular Dystrophies / genetics*
N-Acetylglucosaminyltransferases / genetics
Proteins / genetics*
Reg. No./Substance:
0/DAG1 protein, human; 0/FKTN protein, human; 0/Membrane Proteins; 0/Proteins; 146888-27-9/Dystroglycans; EC 2.4.1.-/N-Acetylglucosaminyltransferases; EC 2.4.1.-/protein O-mannose beta-1,2-N-acetylglucosaminyltransferase

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