Literature DB >> 22922262

The attachment disorders of muscle: failure to carb-load.

Elizabeth M McNally1.   

Abstract

Dystroglycan is a prominent cell surface protein that mediates attachment to the extracellular matrix. Although broadly expressed, glycosylated dystroglycan is critically important for muscle cell adherence to its surrounding matrix. A subgroup of muscular dystrophies, which often manifest in infancy, is associated with reduced glycosylation of dystroglycan. In this issue of the JCI, Beedle et al. used conditional gene targeting of Fktn, the gene responsible for Fukuyama congenital muscular dystrophy, to investigate a developmental requirement for glycosylation of dystroglycan.

Entities:  

Year:  2012        PMID: 22922262      PMCID: PMC3428106          DOI: 10.1172/JCI65483

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  15 in total

1.  Research group on neuromuscular diseases. A report on various aspects of myogenic cell culture with particular reference to studies on the muscular dystrophies.

Authors:  H Holtzer; K W Jones; D Yaffe
Journal:  J Neurol Sci       Date:  1975-09       Impact factor: 3.181

Review 2.  Congenital muscular dystrophies: toward molecular therapeutic interventions.

Authors:  James Collins; Carsten G Bönnemann
Journal:  Curr Neurol Neurosci Rep       Date:  2010-03       Impact factor: 5.081

3.  Cranin: a laminin-binding protein of cell membranes.

Authors:  N R Smalheiser; N B Schwartz
Journal:  Proc Natl Acad Sci U S A       Date:  1987-09       Impact factor: 11.205

4.  Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of alpha-dystroglycan with laminin.

Authors:  A Chiba; K Matsumura; H Yamada; T Inazu; T Shimizu; S Kusunoki; I Kanazawa; A Kobata; T Endo
Journal:  J Biol Chem       Date:  1997-01-24       Impact factor: 5.157

5.  Overexpression of the cytotoxic T cell GalNAc transferase in skeletal muscle inhibits muscular dystrophy in mdx mice.

Authors:  Holly H Nguyen; Vianney Jayasinha; Bing Xia; Kwame Hoyte; Paul T Martin
Journal:  Proc Natl Acad Sci U S A       Date:  2002-04-16       Impact factor: 11.205

6.  Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders.

Authors:  Paul J Holzfeind; Prabhjit K Grewal; Herbert A Reitsamer; Jasmin Kechvar; Hans Lassmann; Harald Hoeger; Jane E Hewitt; Reginald E Bittner
Journal:  Hum Mol Genet       Date:  2002-10-01       Impact factor: 6.150

Review 7.  Muscular dystrophies due to glycosylation defects.

Authors:  Francesco Muntoni; Silvia Torelli; Martin Brockington
Journal:  Neurotherapeutics       Date:  2008-10       Impact factor: 7.620

8.  O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding.

Authors:  Takako Yoshida-Moriguchi; Liping Yu; Stephanie H Stalnaker; Sarah Davis; Stefan Kunz; Michael Madson; Michael B A Oldstone; Harry Schachter; Lance Wells; Kevin P Campbell
Journal:  Science       Date:  2010-01-01       Impact factor: 47.728

9.  Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.

Authors:  Mariko Taniguchi-Ikeda; Kazuhiro Kobayashi; Motoi Kanagawa; Chih-chieh Yu; Kouhei Mori; Tetsuya Oda; Atsushi Kuga; Hiroki Kurahashi; Hasan O Akman; Salvatore DiMauro; Ryuji Kaji; Toshifumi Yokota; Shin'ichi Takeda; Tatsushi Toda
Journal:  Nature       Date:  2011-10-05       Impact factor: 49.962

10.  ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

Authors:  Tobias Willer; Hane Lee; Mark Lommel; Takako Yoshida-Moriguchi; Daniel Beltran Valero de Bernabe; David Venzke; Sebahattin Cirak; Harry Schachter; Jiri Vajsar; Thomas Voit; Francesco Muntoni; Andrea S Loder; William B Dobyns; Thomas L Winder; Sabine Strahl; Katherine D Mathews; Stanley F Nelson; Steven A Moore; Kevin P Campbell
Journal:  Nat Genet       Date:  2012-05       Impact factor: 38.330

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