Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex (Articolo in rivista)

Type

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

Label

• Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex (Articolo in rivista) (literal)

Anno

• 2011-01-01T00:00:00+01:00 (literal)

Alternative label

• Lancioni Alessio; Rotundo Ida Luisa; Kobayashi Yvonne Monique; et al. (2011)
  Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex
  in Human molecular genetics (Print)
  (literal)

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

• Lancioni Alessio; Rotundo Ida Luisa; Kobayashi Yvonne Monique; et al. (literal)

Pagina inizio

• 4644 (literal)

Pagina fine

• 4654 (literal)

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• 20 (literal)

Rivista

• Human molecular genetics (Rivista)

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• PMID: 21890494 (literal)

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• Pubblicazione (literal)

Note

• ISI Web of Science (WOS) (literal)

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• CNR-IGB \"ABT\" (literal)

Titolo

• Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex (literal)

Abstract

• Cardiomyopathy is a puzzling complication in addition to skeletal muscle pathology for patients with mutations in beta-, gamma- or delta-sarcoglycan (SG) genes. Patients with mutations in alpha-SG rarely have associated cardiomyopathy, or their cardiac pathology is very mild. We hypothesize that a fifth SG, epsilon-SG, may compensate for alpha-SG deficiency in the heart. To investigate the function of epsilon-SG in striated muscle, we generated an Sgce-null mouse and a Sgca-;Sgce-null mouse, which lacks both alpha- and epsilon-SGs. While Sgce-null mice showed a wild-type phenotype, with no signs of muscular dystrophy or heart disease, the Sgca-;Sgce-null mouse developed a progressive muscular dystrophy and a more anticipated and severe cardiomyopathy. It shows a complete loss of residual SGs and a strong reduction in both dystrophin and dystroglycan. Our data indicate that epsilon-SG is important in preventing cardiomyopathy in alpha-SG deficiency. (literal)

Prodotto di

• Institute of genetics and biophysics \"Adriano Buzzati Traverso\" (IGB) (Istituto)
• Meccanismi molecolari e cellulari della determinazione neurale, differenziamento neuronale e patologie del sistema nervoso (SV.P16.006.001) (Modulo)

Autore CNR

• DARIO ACAMPORA (Unità di personale interno)

Incoming links:

Prodotto

• Institute of genetics and biophysics \"Adriano Buzzati Traverso\" (IGB) (Istituto)
• Meccanismi molecolari e cellulari della determinazione neurale, differenziamento neuronale e patologie del sistema nervoso (SV.P16.006.001) (Modulo)

Autore CNR di

• DARIO ACAMPORA (Unità di personale interno)

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

• Human molecular genetics (Rivista)