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Protein defects in neuromuscular diseases
Vainzof, M; Zatz, M.
Afiliação
  • Vainzof, M; Universidade de São Paulo. Instituto de Biociências. Departamento de Biologia. Centro de Estudos do Genoma Humano. São Paulo. BR
  • Zatz, M; Universidade de São Paulo. Instituto de Biociências. Departamento de Biologia. Centro de Estudos do Genoma Humano. São Paulo. BR
Braz. j. med. biol. res ; 36(5): 543-555, May 2003. ilus, tab
Artigo em Inglês | LILACS | ID: lil-331460
Biblioteca responsável: BR1.1
ABSTRACT
Muscular dystrophies are a heterogeneous group of genetically determined progressive disorders of the muscle with a primary or predominant involvement of the pelvic or shoulder girdle musculature. The clinical course is highly variable, ranging from severe congenital forms with rapid progression to milder forms with later onset and a slower course. In recent years, several proteins from the sarcolemmal muscle membrane (dystrophin, sarcoglycans, dysferlin, caveolin-3), from the extracellular matrix (alpha2-laminin, collagen VI), from the sarcomere (telethonin, myotilin, titin, nebulin), from the muscle cytosol (calpain 3, TRIM32), from the nucleus (emerin, lamin A/C, survival motor neuron protein), and from the glycosylation pathway (fukutin, fukutin-related protein) have been identified. Mutations in their respective genes are responsible for different forms of neuromuscular diseases. Protein analysis using Western blotting or immunohistochemistry with specific antibodies is of the utmost importance for the differential diagnosis and elucidation of the physiopathology of each genetic disorder involved. Recent molecular studies have shown clinical inter- and intra-familial variability in several genetic disorders highlighting the importance of other factors in determining phenotypic expression and the role of possible modifying genes and protein interactions. Developmental studies can help elucidate the mechanism of normal muscle formation and thus muscle regeneration. In the last fifteen years, our research has focused on muscle protein expression, localization and possible interactions in patients affected by different forms of muscular dystrophies. The main objective of this review is to summarize the most recent findings in the field and our own contribution
Assuntos
Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: LILACS Assunto principal: Proteínas Musculares / Distrofias Musculares / Mutação Limite: Humanos Idioma: Inglês Revista: Braz. j. med. biol. res Assunto da revista: Biologia / Medicina Ano de publicação: 2003 Tipo de documento: Artigo País de afiliação: Brasil Instituição/País de afiliação: Universidade de São Paulo/BR

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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: LILACS Assunto principal: Proteínas Musculares / Distrofias Musculares / Mutação Limite: Humanos Idioma: Inglês Revista: Braz. j. med. biol. res Assunto da revista: Biologia / Medicina Ano de publicação: 2003 Tipo de documento: Artigo País de afiliação: Brasil Instituição/País de afiliação: Universidade de São Paulo/BR
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