The posttranslational processing of prelamin A and disease.
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.
Davies
Brandon S J
BS
Department of Medicine, University of California, Los Angeles, California 90095, USA. bdavies@mednet.ucla.edu
Fong
Loren G
LG
Yang
Shao H
SH
Coffinier
Catherine
C
Young
Stephen G
SG
D000818:Animals; D004195:Disease Models, Animal; D004791:Enzyme Inhibitors / Q000627:therapeutic use; D051231:Farnesyltranstransferase / Q000037:antagonists & inhibitors; D006801:Humans; D007231:Infant, Newborn; D034904:Lamin Type A; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism*; D011371:Progeria / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism*; D011498:Protein Precursors / Q000235:genetics / Q000378:metabolism*; D011499:Protein Processing, Post-Translational
D004791:Enzyme Inhibitors; D034904:Lamin Type A; D009687:Nuclear Proteins; D011498:Protein Precursors; C090764:prelamin A; D051231:Farnesyltranstransferase