The Posttranslational Processing of Prelamin A and Disease-Reference-Cited by-同舟云学术

The Posttranslational Processing of Prelamin A and Disease

Published:2009-09-01 Issue:1 Volume:10 Page:153-174
ISSN:1527-8204
Container-title:Annual Review of Genomics and Human Genetics
language:en
Short-container-title:Annu. Rev. Genom. Hum. Genet.

Author:

Davies Brandon S.J.¹,Fong Loren G.¹,Yang Shao H.¹,Coffinier Catherine¹,Young Stephen G.¹²

Affiliation:

1. Departments of Medicine, University of California, Los Angeles, California 90095;

2. Departments of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095;

Abstract

Human geneticists have shown that some progeroid syndromes are caused by mutations that interfere with the conversion of farnesyl-prelamin A to mature lamin A. For example, Hutchinson-Gilford progeria syndrome is caused by LMNA mutations that lead to the accumulation of a farnesylated version of prelamin A. In this review, we discuss the posttranslational modifications of prelamin A and their relevance to the pathogenesis and treatment of progeroid syndromes.

Publisher

Annual Reviews

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://www.annualreviews.org/doi/pdf/10.1146/annurev-genom-082908-150150

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