Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies. (Articolo in rivista)

Type

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

Label

• Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies. (Articolo in rivista) (literal)

Anno

• 2014-01-01T00:00:00+01:00 (literal)

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

• 10.1021/pr500675e (literal)

Alternative label

• Sara De Palma 1,2, Daniele Capitanio1 3, Michele Vasso 2, Paola Braghetta 4, Chiara Scotton 5, Paolo Bonaldo 4, Hanns Lochmüller 6, Francesco Muntoni 7, Alessandra Ferlini 5 and Cecilia Gelfi 1,2,3 (2014)
  Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies.
  in Journal of proteome research (Print)
  (literal)

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

• Sara De Palma 1,2, Daniele Capitanio1 3, Michele Vasso 2, Paola Braghetta 4, Chiara Scotton 5, Paolo Bonaldo 4, Hanns Lochmüller 6, Francesco Muntoni 7, Alessandra Ferlini 5 and Cecilia Gelfi 1,2,3 (literal)

Pagina inizio

• 11 (literal)

Pagina fine

• 5022 (literal)

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

• 3 (literal)

Rivista

• Journal of proteome research (Rivista)

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

• 5030 (literal)

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

• 3 (literal)

Note

• PubMe (literal)

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

• 1 Department of Biomedical Sciences for Health, University of Milan, Segrate, Milan, Italy. 2 Institute of Bioimaging and Molecular Physiology, National Research Council, Cefalù-Segrate, Italy. 3 IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy. 4 Department of Molecular Medicine, University of Padova, Padova, Italy. 5 Department of Medical Sciences, University of Ferrara, Ferrara, Italy. 6 Institute of Genetic Medicine, Newcastle University, Centre for Neuromuscular Diseases, Newcastle upon Tyne, UK. 7 Dubowitz Neuromuscular Centre, University College London, Institute of Child Health, London, UK. (literal)

Titolo

• Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies. (literal)

Abstract

• Mutations in the collagen VI genes cause the Ullrich congenital muscular dystrophy (UCMD), with severe phenotype, and Bethlem myopathy (BM) with mild to moderate phenotype. Both, UCMD and BM patients show dystrophic features with degeneration/regeneration and replacement of muscle with fat and fibrous connective tissue. At molecular level, UCMD patients show autophagic impairment, increased PTP opening, whereas in BM, these features are less severe. To elucidate the biochemical mechanisms adopted by the muscle to adapt to collagen VI deficiency in BM and UCMD patients, a proteome analysis was carried out on human muscle biopsies. Qualitative and quantitative differences were assessed by 2D-DIGE coupled to MALDI-ToF/ToF. Proteomics results, coupled with immunoblotting, indicate changes in UPR, hexosamine pathway, aminoacid and fatty acid metabolism, suggesting the association of ER stress, metabolic dysregulation, autophagic impairment and alteration in mechanotransduction signalling. Overall, these results indicate that despite the common downregulation of hexosamine pathway in UCMD and BM, in BM the protein quality control system is sustained by a metabolic adaptation supporting energy requirements for the maintenance of autophagy, counteracting ER misfolded protein overload. In UCMD, this multi-layered system may be disrupted and worsened by the metabolic rewiring which leads to lipotoxicity. (literal)

Prodotto di

• Proteomica differenziale di tessuti patologici e fluidi biologici per la comprensione della biologia dei sistemi (ME.P06.026.002) (Modulo)
• Institute of molecular bioimaging and physiology (IBFM) (Istituto)

Autore CNR

• CECILIA GELFI (Unità di personale esterno)
• SARA DE PALMA (Persona)
• MICHELE VASSO (Unità di personale interno)

Insieme di parole chiave

• Parole chiave di "Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies." (Insieme di parole chiave)

Incoming links:

Prodotto

• Institute of molecular bioimaging and physiology (IBFM) (Istituto)
• Proteomica differenziale di tessuti patologici e fluidi biologici per la comprensione della biologia dei sistemi (ME.P06.026.002) (Modulo)

Autore CNR di

• SARA DE PALMA (Persona)
• MICHELE VASSO (Unità di personale interno)
• CECILIA GELFI (Unità di personale esterno)

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

• Journal of proteome research (Rivista)

Insieme di parole chiave di

• Parole chiave di "Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies." (Insieme di parole chiave)