Proteomic investigation of the molecular pathophysiology of dysferlinopathy (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Proteomic investigation of the molecular pathophysiology of dysferlinopathy (Articolo in rivista) (literal)

Anno

• 2006-01-01T00:00:00+01:00 (literal)

Alternative label

• De Palma S.1, Morandi L. 2, Mariani E. 2, Begum S. 3, Cerretelli P. 4, Wait R. 3, Gelfi C. 1 (2006)
  Proteomic investigation of the molecular pathophysiology of dysferlinopathy
  in Proteomics (Weinh., Print)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• De Palma S.1, Morandi L. 2, Mariani E. 2, Begum S. 3, Cerretelli P. 4, Wait R. 3, Gelfi C. 1 (literal)

Pagina inizio

• 379 (literal)

Pagina fine

• 385 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 6 (literal)

Rivista

• Proteomics (Rivista)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• 1 Institute of Molecular Bioimaging and Physiology, CNR, Segrate, Italy 2 Department of Neuromuscular Disorders, National Neurological Institute Carlo Besta, Milan, Italy 3 Kennedy Institute of Rheumatology, Imperial College London, London, UK 4 Department of Biomedical Science and Technologies, University of Milan, Segrate, Italy (literal)

Titolo

• Proteomic investigation of the molecular pathophysiology of dysferlinopathy (literal)

Abstract

• Mutations in dysferlin gene cause several types of muscular dystrophy in humans, including the limb-girdle muscular dystrophy type 2B and the distal muscular dystrophy of Miyoshi. The dysferlin gene product is a membrane-associated protein belonging to the ferlins family of proteins. The function of the dysferlin protein and the cause of deterioration and regression of muscle fibres in its absence, are incompletely known. A functional clue may be the presence of six hydrophilic domains, C2, that bind calcium and mediate the interaction of proteins with cellular membranes. Dysferlin seems to be involved in the membrane fusion or repair. Molecular diagnosis of dysferlinopathies is now possible and the types of gene alterations that have been characterized so far include missense mutations, deletions and insertions. (literal)

Prodotto di

• Genomica e proteomica per la ricerca di biomarcatori in malattie neurodegenerative e nei tumori (ME.P05.002.001) (Modulo)
• Institute of molecular bioimaging and physiology (IBFM) (Istituto)

Autore CNR

• CECILIA GELFI (Unità di personale interno)
• PAOLO CERRETELLI (Unità di personale esterno)

Insieme di parole chiave

• Parole chiave di "Proteomic investigation of the molecular pathophysiology of dysferlinopathy" (Insieme di parole chiave)

Incoming links:

Autore CNR di

• CECILIA GELFI (Unità di personale interno)
• PAOLO CERRETELLI (Unità di personale esterno)

Prodotto

• Institute of molecular bioimaging and physiology (IBFM) (Istituto)
• Genomica e proteomica per la ricerca di biomarcatori in malattie neurodegenerative e nei tumori (ME.P05.002.001) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Proteomics (Rivista)

Insieme di parole chiave di

• Parole chiave di "Proteomic investigation of the molecular pathophysiology of dysferlinopathy" (Insieme di parole chiave)