Congenital muscular dystrophies involving the O-mannose pathway.

Congenital muscular dystrophies involving the O-mannose pathway. Research Abstract Details 

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Congenital muscular dystrophies involving the O-mannose pathway. Abstract Text:

Paul T Martin,

A number of forms of congenital muscular dystrophy (CMD) have been identified that involve defects in the glycosylation of dystroglycan with O-mannosyl-linked glycans. There are at least six genes that can affect this type of glycosylation, and defects in these genes give rise to disorders that have many aspects of muscle and brain pathology in common. Overexpression of one gene implicated in CMD, LARGE, was recently shown to increase dystroglycan glycosylation and restore its function in cells taken from CMD patients. Overexpression of Galgt2, a glycosyltransferase not implicated in CMD, also alters dystroglycan glycosylation and inhibits muscular dystrophy in a mouse model of Duchenne muscular dystrophy. These findings suggest that a common approach to therapy in muscular dystrophies may be to increase the glycosylation of dystroglycan with particular glycan structures.

Congenital muscular dystrophies involving the O-mannose pathway. Publishing Authors By Initials

PT Martin,

For similar genetic processes: gene expression regulation: protein modification, translational research abstracts see: genetic processes: gene expression regulation: protein modification, translational research

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Congenital muscular dystrophies involving the O-mannose pathway. Journal Published:

PUBLICATION TYPE: Review

Journal: Current molecular medicine

VOLUME: 7

Page Numbers: 417-25

Journal Abbreviation: Curr. Mol. Med.

ISSN: 1566-5240

DAY: 3

MONTH: Jun

YEAR: 2007

Congenital muscular dystrophies involving the O-mannose pathway. Information

Number of References: 64

LANGUAGE: eng

NlmUniqueID: 101093076

Congenital muscular dystrophies involving the O-mannose pathway. Keywords Mesh Terms:

KEYWORDS: Protein Modification, Translational

MESH TERMS: genetics

Chemical & Substance for Abstract: Congenital muscular dystrophies involving the O-mannose pathway. Information

Substance Name: glucosylceramide beta-1-4-galactosyltran

Registry Number: EC 2.4.1.-

Grant and Affiliation Information for Congenital muscular dystrophies involving the O-mannose pathway.

AFFILIATION: Columbus Children's Research Institute, Department of Pediatrics, Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA. MartinPT@pediatrics.ohio-state.edu

Country: Netherlands

AGENCY: United States NIAMS

GRANT: AR050202

ACRONYM: AR

MEDLINETA: Curr Mol Med

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