Results

RDF/XMLNTriplesTurtleShow queryShare ▶
SubjectPredicateObject
http://purl.uniprot.org/citations/15744034http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/15744034http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/15744034http://www.w3.org/2000/01/rdf-schema#comment"

Background

Skeletal muscle disorders associated with mutations of lamin A/C gene include autosomal Emery-Dreifuss muscular dystrophy and limb girdle muscular dystrophy 1B. The pathogenic mechanism underlying these diseases is unknown. Recent data suggest an impairment of signalling mechanisms as a possible cause of muscle malfunction. A molecular complex in muscle cells formed by lamin A/C, emerin, and nuclear actin has been identified. The stability of this protein complex appears to be related to phosphorylation mechanisms.

Objective

To analyse lamin A/C phosphorylation in control and laminopathic muscle cells.

Methods

Lamin A/C N-terminal phosphorylation was determined in cultured mouse myoblasts using a specific antibody. Insulin treatment of serum starved myoblast cultures was carried out to evaluate involvement of insulin signalling in the phosphorylation pathway. Screening of four Emery-Dreifuss and one limb girdle muscular dystrophy 1B cases was undertaken to investigate lamin A/C phosphorylation in both cultured myoblasts and mature muscle fibres.

Results

Phosphorylation of lamin A was observed during myoblast differentiation or proliferation, along with reduced lamin A/C phosphorylation in quiescent myoblasts. Lamin A N-terminus phosphorylation was induced by an insulin stimulus, which conversely did not affect lamin C phosphorylation. Lamin A/C was also hyperphosphorylated in mature muscle, mostly in regenerating fibres. Lamin A/C phosphorylation was strikingly reduced in laminopathic myoblasts and muscle fibres, while it was preserved in interstitial fibroblasts.

Conclusions

Altered lamin A/C interplay with a muscle specific phosphorylation partner might be involved in the pathogenic mechanism of Emery-Dreifuss muscular dystrophy and limb girdle muscular dystrophy 1B."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.org/dc/terms/identifier"doi:10.1136/jmg.2004.026112"xsd:string
http://purl.uniprot.org/citations/15744034http://purl.org/dc/terms/identifier"doi:10.1136/jmg.2004.026112"xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Capanni C."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Capanni C."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Maraldi N.M."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Maraldi N.M."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Cenni V."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Cenni V."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Lattanzi G."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Lattanzi G."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Marmiroli S."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Marmiroli S."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Bonne G."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Bonne G."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Ognibene A."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Ognibene A."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Merlini L."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Merlini L."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Sabatelli P."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Sabatelli P."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Squarzoni S."xsd:string
http://purl.uniprot.org/citations/15744034http://purl.uniprot.org/core/author"Squarzoni S."xsd:string
▶