A homozygousZMPSTE24null mutation in combination with a heterozygous mutation in theLMNAgene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS-Reference-Cited by-同舟云学术

A homozygousZMPSTE24null mutation in combination with a heterozygous mutation in theLMNAgene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS

Published:2006-06 Issue:6 Volume:27 Page:524-531
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Denecke Jonas,Brune Thomas,Feldhaus Tobias,Robenek Horst,Kranz Christian,Auchus Richard J.,Agarwal Anil K.,Marquardt Thorsten

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference34 articles.

1. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia;Agarwal;Hum Mol Genet,2003

2. Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect;Bergo;Proc Natl Acad Sci USA,2002

3. Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome;Capell;Proc Natl Acad Sci USA,2005

4. Prelamin A endoproteolytic processing in vitro by recombinant Zmpste24;Corrigan;Biochem J,2005

5. Lamin a truncation in Hutchinson-Gilford progeria;De Sandre-Giovannoli;Science,2003

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