Literature DB >> 9405466

epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D.

A J Ettinger1, G Feng, J R Sanes.   

Abstract

The sarcoglycans are transmembrane components of the dystrophin-glycoprotein complex, which links the cytoskeleton to the extracellular matrix in adult muscle fibers. Mutations in all four known sarcoglycan genes (alpha, beta, gamma, and delta) have been found in humans with limb-girdle muscular dystrophy. We have identified a novel protein, epsilon-sarcoglycan, that shares 44% amino acid identity with alpha-sarcoglycan (adhalin). We show that epsilon-sarcoglycan is a membrane-associated glycoprotein and document its expression by Northern blotting, immunoblotting, and immunofluorescence. In contrast to alpha-delta sarcoglycans, which are expressed predominantly or exclusively in striated muscle, epsilon-sarcoglycan is broadly distributed in muscle and nonmuscle cells of both embryos and adults. These results raise the possibility that sarcoglycan-containing complexes mediate membrane-matrix interactions in many cell types.

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Year:  1997        PMID: 9405466     DOI: 10.1074/jbc.272.51.32534

Source DB:  PubMed          Journal:  J Biol Chem        ISSN: 0021-9258            Impact factor:   5.157


  26 in total

Review 1.  Understanding dystrophinopathies: an inventory of the structural and functional consequences of the absence of dystrophin in muscles of the mdx mouse.

Authors:  J M Gillis
Journal:  J Muscle Res Cell Motil       Date:  1999-10       Impact factor: 2.698

Review 2.  Engineering animal models of dystonia.

Authors:  Janneth Oleas; Fumiaki Yokoi; Mark P DeAndrade; Antonio Pisani; Yuqing Li
Journal:  Mov Disord       Date:  2013-06-15       Impact factor: 10.338

Review 3.  Primary dystonia: molecules and mechanisms.

Authors:  Lauren M Tanabe; Connie E Kim; Noga Alagem; William T Dauer
Journal:  Nat Rev Neurol       Date:  2009-10-13       Impact factor: 42.937

4.  Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.

Authors:  Fumiaki Yokoi; Guang Yang; Jindong Li; Mark P DeAndrade; Tong Zhou; Yuqing Li
Journal:  J Biochem       Date:  2010-07-13       Impact factor: 3.387

Review 5.  Finding the sweet spot: assembly and glycosylation of the dystrophin-associated glycoprotein complex.

Authors:  Dewayne Townsend
Journal:  Anat Rec (Hoboken)       Date:  2014-09       Impact factor: 2.064

6.  Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.

Authors:  M B Sheridan; A Bytyci Telegrafi; V Stinnett; C C Umeh; Z Mari; T M Dawson; J Bodurtha; D A S Batista
Journal:  Clin Genet       Date:  2013-01-20       Impact factor: 4.438

7.  Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models.

Authors:  Fumiaki Yokoi; Mai T Dang; Guang Yang; Jindong Li; Atbin Doroodchi; Tong Zhou; Yuqing Li
Journal:  Behav Brain Res       Date:  2011-10-21       Impact factor: 3.332

Review 8.  [Limb girdle muscular dystrophies].

Authors:  J Finsterer
Journal:  Nervenarzt       Date:  2004-12       Impact factor: 1.214

9.  Overexpression of Galgt2 reduces dystrophic pathology in the skeletal muscles of alpha sarcoglycan-deficient mice.

Authors:  Rui Xu; Sarah DeVries; Marybeth Camboni; Paul T Martin
Journal:  Am J Pathol       Date:  2009-06-04       Impact factor: 4.307

10.  Metabolic changes in DYT11 myoclonus-dystonia.

Authors:  Maren Carbon; Deborah Raymond; Laurie Ozelius; Rachel Saunders-Pullman; Steven Frucht; Vijay Dhawan; Susan Bressman; David Eidelberg
Journal:  Neurology       Date:  2013-01-02       Impact factor: 9.910

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