Literature DB >> 9847993

The sarcoglycan complex in limb-girdle muscular dystrophy.

L E Lim1, K P Campbell.   

Abstract

The involvement of the sarcoglycan complex in the pathogenesis of muscular dystrophy is becoming increasingly clear. Sarcoglycan gene mutations lead to four forms of autosomal recessive limb-girdle muscular dystrophy. Recent progress has been made with the identification of novel mutations and their correlations with disease. Through this research, a better understanding the molecular pathogenesis of limb-girdle muscular dystrophy has been gained. Finally, animal models are now being used to study viral-mediated gene transfer for the future treatment of this disease.

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Year:  1998        PMID: 9847993     DOI: 10.1097/00019052-199810000-00006

Source DB:  PubMed          Journal:  Curr Opin Neurol        ISSN: 1350-7540            Impact factor:   5.710


  28 in total

1.  Over-expression of Microspan, a novel component of the sarcoplasmic reticulum, causes severe muscle pathology with triad abnormalities.

Authors:  Gaynor Miller; Angela K Peter; Erica Espinoza; Jim Heighway; Rachelle H Crosbie
Journal:  J Muscle Res Cell Motil       Date:  2006-07-04       Impact factor: 2.698

Review 2.  The sarcomeric Z-disc: a nodal point in signalling and disease.

Authors:  Derk Frank; Christian Kuhn; Hugo A Katus; Norbert Frey
Journal:  J Mol Med (Berl)       Date:  2006-01-17       Impact factor: 4.599

3.  Expansion of divergent SEA domains in cell surface proteins and nucleoporin 54.

Authors:  Jimin Pei; Nick V Grishin
Journal:  Protein Sci       Date:  2017-02-13       Impact factor: 6.725

4.  RNA interference improves myopathic phenotypes in mice over-expressing FSHD region gene 1 (FRG1).

Authors:  Lindsay M Wallace; Sara E Garwick-Coppens; Rossella Tupler; Scott Q Harper
Journal:  Mol Ther       Date:  2011-07-05       Impact factor: 11.454

5.  Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice.

Authors:  James B Papizan; Glynnis A Garry; Svetlana Brezprozvannaya; John R McAnally; Rhonda Bassel-Duby; Ning Liu; Eric N Olson
Journal:  J Clin Invest       Date:  2017-09-05       Impact factor: 14.808

6.  A novel method for identifying disease associated protein complexes based on functional similarity protein complex networks.

Authors:  Duc-Hau Le
Journal:  Algorithms Mol Biol       Date:  2015-04-28       Impact factor: 1.405

7.  Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.

Authors:  S Tsubata; K R Bowles; M Vatta; C Zintz; J Titus; L Muhonen; N E Bowles; J A Towbin
Journal:  J Clin Invest       Date:  2000-09       Impact factor: 14.808

8.  Sarcospan-deficient mice maintain normal muscle function.

Authors:  C S Lebakken; D P Venzke; R F Hrstka; C M Consolino; J A Faulkner; R A Williamson; K P Campbell
Journal:  Mol Cell Biol       Date:  2000-03       Impact factor: 4.272

9.  Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.

Authors:  R Barresi; C Di Blasi; T Negri; R Brugnoni; A Vitali; G Felisari; A Salandi; S Daniel; F Cornelio; L Morandi; M Mora
Journal:  J Med Genet       Date:  2000-02       Impact factor: 6.318

10.  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

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