Article
Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 6 Sept 2005
Capell Brian C, Erdos Michael R, Madigan James P, Fiordalisi James J, Varga Renee, Conneely Karen N, Gordon Leslie B, Der Channing J, Cox Adrienne D, Collins Francis S
Abstract excerpt
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that is characterized by dramatic premature aging and accelerated cardiovascular disease. HGPS is almost always caused by a de novo point mutation in the lamin A gene (LMNA) that activates a cryptic splice donor site, producing a truncated mutant protein termed "progerin." WT prelamin A is anchored to the nuclear envelope by a farnesyl...
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