Article
Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins.
Biochemical and biophysical research communications - 29 Dec 2006
Muchir Antoine, Massart Catherine, van Engelen Baziel G, Lammens Martin, Bonne Gisèle, Worman Howard J
Abstract excerpt
We previously identified and characterized a homozygous LMNA nonsense mutation leading to the absence of A-type lamins in a premature neonate who died at birth. We show here that the absence of A-type lamins is due to degradation of the aberrant mRNA transcript with a premature termination codon. In cultured fibroblasts from the subject with the homozygous LMNA nonsense mutation, there was a decreased...
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