Article
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.
Human mutation - 1 Jun 2006
Denecke Jonas, Brune Thomas, Feldhaus Tobias, Robenek Horst, Kranz Christian, Auchus Richard J, Agarwal Anil K, Marquardt Thorsten
Abstract excerpt
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder normally caused by a spontaneous heterozygous mutation in the LMNA gene that codes for the nuclear lamina protein lamin A. Several enzymes are involved in the processing of its precursor, prelamin A, to the mature lamin A. A functional knockout of one of the enzymes involved in prelamin A processing, the zinc metalloprotease ZMPSTE24,...
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