Literature DB >> 10590887

Inherited disorders of sarcomeric proteins.

N G Laing1.   

Abstract

The most important advances in sarcomeric protein diseases continue to be the identification of mutated genes responsible for human diseases. These have recently included those that encode skeletal muscle alpha-actin in autosomal dominant and autosomal recessive nemaline myopathy, nebulin and slow alpha-tropomyosin in autosomal recessive nemaline myopathy, and desmin and alpha B-crystallin in desminopathies.

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Year:  1999        PMID: 10590887     DOI: 10.1097/00019052-199910000-00004

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


  5 in total

1.  Tropomyosin requires an intact N-terminal coiled coil to interact with tropomodulin.

Authors:  Norma J Greenfield; Velia M Fowler
Journal:  Biophys J       Date:  2002-05       Impact factor: 4.033

2.  Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.

Authors:  J Moraczewska; N J Greenfield; Y Liu; S E Hitchcock-DeGregori
Journal:  Biophys J       Date:  2000-12       Impact factor: 4.033

3.  p0071, a member of the armadillo multigene family, is a constituent of sarcomeric I-bands in human skeletal muscle.

Authors:  R Schröder; P F van der Ven; I Warlo; H Schumann; D O Fürst; I Blümcke; M C Schmidt; M Hatzfeld
Journal:  J Muscle Res Cell Motil       Date:  2000       Impact factor: 2.698

4.  Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene.

Authors:  T Martinsson; A Oldfors; N Darin; K Berg; H Tajsharghi; M Kyllerman; J Wahlstrom
Journal:  Proc Natl Acad Sci U S A       Date:  2000-12-19       Impact factor: 11.205

5.  Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period.

Authors:  K Crawford; R Flick; L Close; D Shelly; R Paul; K Bove; A Kumar; J Lessard
Journal:  Mol Cell Biol       Date:  2002-08       Impact factor: 4.272

  5 in total

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