Fukutin and α-dystroglycanopahties

Tatsushi Toda, T. Chiyonobu, H. Xiong, M. Tachikawa, K. Kobayashi, H. Manya, S. Takeda, Mariko Ikeda, Hiroki Kurahashi, T. Endo

研究成果: Article

17 引用 (Scopus)

抄録

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.

元の言語English
ページ(範囲)60-63
ページ数4
ジャーナルActa Myologica
24
発行部数2
出版物ステータスPublished - 01-10-2005

Fingerprint

Walker-Warburg Syndrome
Dystroglycans
Muscular Dystrophies
Lissencephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Brain
Post Translational Protein Processing
Mannose
Proteins
Muscles
Genes

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine

これを引用

Toda, T., Chiyonobu, T., Xiong, H., Tachikawa, M., Kobayashi, K., Manya, H., ... Endo, T. (2005). Fukutin and α-dystroglycanopahties. Acta Myologica, 24(2), 60-63.
Toda, Tatsushi ; Chiyonobu, T. ; Xiong, H. ; Tachikawa, M. ; Kobayashi, K. ; Manya, H. ; Takeda, S. ; Ikeda, Mariko ; Kurahashi, Hiroki ; Endo, T. / Fukutin and α-dystroglycanopahties. :: Acta Myologica. 2005 ; 巻 24, 番号 2. pp. 60-63.
@article{0a99e9d2713b470ba25ceef21f42952d,
title = "Fukutin and α-dystroglycanopahties",
abstract = "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.",
author = "Tatsushi Toda and T. Chiyonobu and H. Xiong and M. Tachikawa and K. Kobayashi and H. Manya and S. Takeda and Mariko Ikeda and Hiroki Kurahashi and T. Endo",
year = "2005",
month = "10",
day = "1",
language = "English",
volume = "24",
pages = "60--63",
journal = "Acta Myologica",
issn = "1128-2460",
publisher = "Gaetano Conte Academy",
number = "2",

}

Toda, T, Chiyonobu, T, Xiong, H, Tachikawa, M, Kobayashi, K, Manya, H, Takeda, S, Ikeda, M, Kurahashi, H & Endo, T 2005, 'Fukutin and α-dystroglycanopahties', Acta Myologica, 巻. 24, 番号 2, pp. 60-63.

Fukutin and α-dystroglycanopahties. / Toda, Tatsushi; Chiyonobu, T.; Xiong, H.; Tachikawa, M.; Kobayashi, K.; Manya, H.; Takeda, S.; Ikeda, Mariko; Kurahashi, Hiroki; Endo, T.

:: Acta Myologica, 巻 24, 番号 2, 01.10.2005, p. 60-63.

研究成果: Article

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 - Ikeda, Mariko

AU - Kurahashi, Hiroki

AU - Endo, T.

PY - 2005/10/1

Y1 - 2005/10/1

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.

UR - http://www.scopus.com/inward/record.url?scp=33344454515&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33344454515&partnerID=8YFLogxK

M3 - Article

VL - 24

SP - 60

EP - 63

JO - Acta Myologica

JF - Acta Myologica

SN - 1128-2460

IS - 2

ER -

Toda T, Chiyonobu T, Xiong H, Tachikawa M, Kobayashi K, Manya H その他. Fukutin and α-dystroglycanopahties. Acta Myologica. 2005 10 1;24(2):60-63.