Fukutin and α-dystroglycanopahties

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

Research output: Contribution to journalArticle

17 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)60-63
Number of pages4
JournalActa Myologica
Volume24
Issue number2
Publication statusPublished - 01-10-2005

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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

Cite this

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. In: Acta Myologica. 2005 ; Vol. 24, No. 2. pp. 60-63.
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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, vol. 24, no. 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.

In: Acta Myologica, Vol. 24, No. 2, 01.10.2005, p. 60-63.

Research output: Contribution to journalArticle

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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.

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