| http://purl.uniprot.org/citations/14749532 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14749532 | http://www.w3.org/2000/01/rdf-schema#comment | "Dysferlin is a plasma membrane protein of skeletal muscle whose deficiency causes Miyoshi myopathy, limb girdle muscular dystrophy 2B and distal anterior compartment myopathy. Recent studies have reported that dysferlin is implicated in membrane repair mechanism and coimmunoprecipitates with caveolin 3 in human skeletal muscle. Caveolin 3 is a principal structural protein of caveolae membrane domains in striated muscle cells and cardiac myocytes. Mutations of caveolin 3 gene (CAV3) cause different diseases and where caveolin 3 expression is defective, dysferlin localization is abnormal. We describe the alteration of dysferlin expression and localization in skeletal muscle from a patient with raised serum creatine kinase (hyperCKaemia), whose reduction of caveolin 3 is caused by a CAV3 P28L mutation. Moreover, we performed a study on dysferlin interaction with caveolin 3 in C2C12 cells. We show the association of dysferlin to cellular membrane of C2C12 myotubes and the low affinity link between dysferlin and caveolin 3 by immunoprecipitation techniques. We also reproduced caveolinopathy conditions in C2C12 cells by a selective p38 MAP kinase inhibition with SB203580, which blocks the expression of caveolin 3. In this model, myoblasts do not fuse into myotubes and we found that dysferlin expression is reduced. These results underline the importance of dysferlin-caveolin 3 relationship for skeletal muscle integrity and propose a cellular model to clarify the dysferlin alteration mechanisms in caveolinopathies."xsd:string |
| http://purl.uniprot.org/citations/14749532 | http://purl.org/dc/terms/identifier | "doi:10.1038/emm.2003.70"xsd:string |
| http://purl.uniprot.org/citations/14749532 | http://purl.uniprot.org/core/author | "Capanni C."xsd:string |
| http://purl.uniprot.org/citations/14749532 | http://purl.uniprot.org/core/author | "Minetti C."xsd:string |
| http://purl.uniprot.org/citations/14749532 | http://purl.uniprot.org/core/author | "Maraldi N.M."xsd:string |
| http://purl.uniprot.org/citations/14749532 | http://purl.uniprot.org/core/author | "Lattanzi G."xsd:string |
| http://purl.uniprot.org/citations/14749532 | http://purl.uniprot.org/core/author | "Ognibene A."xsd:string |
| http://purl.uniprot.org/citations/14749532 | http://purl.uniprot.org/core/author | "Merlini L."xsd:string |
| http://purl.uniprot.org/citations/14749532 | http://purl.uniprot.org/core/author | "Sabatelli P."xsd:string |
| http://purl.uniprot.org/citations/14749532 | http://purl.uniprot.org/core/author | "Squarzoni S."xsd:string |
| http://purl.uniprot.org/citations/14749532 | http://purl.uniprot.org/core/author | "Columbaro M."xsd:string |
| http://purl.uniprot.org/citations/14749532 | http://purl.uniprot.org/core/author | "Mattioli E."xsd:string |
| http://purl.uniprot.org/citations/14749532 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/14749532 | http://purl.uniprot.org/core/name | "Exp Mol Med"xsd:string |
| http://purl.uniprot.org/citations/14749532 | http://purl.uniprot.org/core/pages | "538-544"xsd:string |
| http://purl.uniprot.org/citations/14749532 | http://purl.uniprot.org/core/title | "Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition."xsd:string |
| http://purl.uniprot.org/citations/14749532 | http://purl.uniprot.org/core/volume | "35"xsd:string |
| http://purl.uniprot.org/citations/14749532 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/14749532 |
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