Article
A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A.
The Journal of clinical endocrinology and metabolism - 1 May 2011
Le Dour Caroline, Schneebeli Stéphane, Bakiri Fawzi, Darcel Françoise, Jacquemont Marie-Line, Maubert Marie-Anne, Auclair Martine, Jeziorowska Dorota, Reznik Yves, Béréziat Véronique, Capeau Jacqueline, Lascols Olivier, Vigouroux Corinne
Abstract excerpt
CONTEXT: Mutations in LMNA, encoding A-type lamins, lead to multiple laminopathies, including lipodystrophies, progeroid syndromes, and cardiomyopathies. Alterations in the prelamin-A posttranslational maturation, resulting in accumulation of farnesylated isoforms, cause human progeroid syndromes. Accumulation of mutant nonfarnesylated prelamin-A leads to cardiomyopathy or progeria in mice, but no data have been...
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