TY - JOUR
T1 - Fukutin and α-dystroglycanopahties
AU - Toda, Tatsushi
AU - Chiyonobu, T.
AU - Xiong, H.
AU - Tachikawa, M.
AU - Kobayashi, K.
AU - Manya, H.
AU - Takeda, S.
AU - Taniguchi-Ikeda, Mariko
AU - Kurahashi, H.
AU - Endo, T.
PY - 2005/10
Y1 - 2005/10
N2 - 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 β1, 2-N-acetylglucosaminyltransferase (POMGnT1), respectively. Recent studies have revealed that posttranslational modification of α-dystroglycan is associated with these congenital muscular dystrophies with brain malformations. All are characterized by hypoglycosylated α-dystroglycan. Fukutin's function and the relation with other α-dystroglycanopathies are discussed.
AB - 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 β1, 2-N-acetylglucosaminyltransferase (POMGnT1), respectively. Recent studies have revealed that posttranslational modification of α-dystroglycan is associated with these congenital muscular dystrophies with brain malformations. All are characterized by hypoglycosylated α-dystroglycan. Fukutin's function and the relation with other α-dystroglycanopathies are discussed.
KW - Fukutin
KW - Fukuyama congenital muscular dystrophy (FCMD)
KW - α- dystroglycanopathy
UR - https://www.scopus.com/pages/publications/33344454515
UR - https://www.scopus.com/pages/publications/33344454515#tab=citedBy
M3 - Article
C2 - 16550916
AN - SCOPUS:33344454515
SN - 1128-2460
VL - 24
SP - 60
EP - 63
JO - Acta Myologica
JF - Acta Myologica
IS - 2
ER -