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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: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2012
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| Assuntos: | |
| Acesso em linha: | 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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