alpha-Dystroglycan, the usual suspect? (Articolo in rivista)

Type
Label
  • alpha-Dystroglycan, the usual suspect? (Articolo in rivista) (literal)
Anno
  • 2005-01-01T00:00:00+01:00 (literal)
Alternative label
  • Brancaccio A. (2005)
    alpha-Dystroglycan, the usual suspect?
    in Neuromuscular disorders
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Brancaccio A. (literal)
Pagina inizio
  • 825 (literal)
Pagina fine
  • 828 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 15 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Titolo
  • alpha-Dystroglycan, the usual suspect? (literal)
Abstract
  • An increasing number of congenital muscular dystrophies might originate from genetic abnormalities of glycosyltransferases genes which are believed to target the alpha subunit of the dystroglycan (DG) adhesion complex as their major enzymatic substrate. alpha-DG is highly glycosylated and peripherally associated with the sarcolemma of skeletal muscle and the plasma membrane in a wide variety of cells. Several lines of evidence indicate that alpha-DG hypoglycosylation might represent the primary molecular event characterizing congenital dystrophies, since it is likely to alter alpha-DG high-affinity binding to laminin and other extracellular molecules, thus negatively influencing the basement-membrane/cytoskeleton axis and eventually leading to sarcolemmal instability, infiltration of myofibers and congenital weakness. For this reason, congenital diseases such as Walker-Warburg Syndrome or Muscle-Eye-Brain disease, have been recently denominated 'secondary dystroglycanopathies'. However, some crucial points need to be fully addressed in order to finally assess the degree of involvement of alpha-DG in congenital muscular diseases, for example: the possibility that mutations hitting the DG gene might lead to primary dystroglycanopathies; the putative functional or pathological role of hypoglycosylated - or even hyperglycosylated - alpha-DG molecules; or also the compensatory role played by the recently identified paralogue glycosyltransferases in alpha-DG sugar decoration. (literal)
Prodotto di
Autore CNR

Incoming links:


Autore CNR di
Prodotto
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
data.CNR.it