Article
DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.
Human molecular genetics - 1 Mar 2012
Bertrand Anne T, Renou Laure, Papadopoulos Aurélie, Beuvin Maud, Lacène Emmanuelle, Massart Catherine, Ottolenghi Chris, Decostre Valérie, Maron Sophia, Schlossarek Saskia, Cattin Marie-Elodie, Carrier Lucie, Malissen Marie, Arimura Takuro, Bonne Gisèle
Abstract excerpt
The LMNA gene encodes lamin A/C intermediate filaments that polymerize beneath the nuclear membrane, and are also found in the nucleoplasm in an uncharacterized assembly state. They are thought to have structural functions and regulatory roles in signaling pathways via interaction with transcription factors. Mutations in LMNA have been involved in numerous inherited human diseases, including severe congenital...
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