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Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity

The zinc metalloprotease ZMPSTE24 plays a critical role in nuclear lamin biology by cleaving the prenylated and carboxylmethylated 15-amino acid tail from the C-terminus of prelamin A to yield mature lamin A. A defect in this proteolytic event, caused by a mutation in the lamin A gene (LMNA) that el...

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Main Authors: Barrowman, Jemima, Wiley, Patricia A., Hudon-Miller, Sarah E., Hrycyna, Christine A., Michaelis, Susan
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2012
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3428156/
https://ncbi.nlm.nih.gov/pubmed/22718200
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds233
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