Article
Structures of the lamin A/C R335W and E347K mutants: implications for dilated cardiolaminopathies.
Biochemical and biophysical research communications - 10 Feb 2012
Bollati Michela, Barbiroli Alberto, Favalli Valentina, Arbustini Eloisa, Charron Philippe, Bolognesi Martino
Abstract excerpt
Dilated cardiomyopathy (DCM) is a condition whereby the normal muscular function of the myocardium is altered by specific or multiple aetiologies. About 25-35% of DCM patients show familial forms of the disease, with most mutations affecting genes encoding cytoskeletal proteins. Most of the DCM-related mutations fall in the Lamin AC gene, in particular in the Coil2B domain of the encoded protein. In this context,...
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