Article
Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy.
The Journal of biological chemistry - 23 Apr 2010
Almeida-Souza Leonardo, Goethals Sofie, de Winter Vicky, Dierick Ines, Gallardo Rodrigo, Van Durme Joost, Irobi Joy, Gettemans Jan, Rousseau Frederic, Schymkowitz Joost, Timmerman Vincent, Janssens Sophie
Abstract excerpt
Small heat shock proteins are molecular chaperones capable of maintaining denatured proteins in a folding-competent state. We have previously shown that missense mutations in the small heat shock protein HSPB1 (HSP27) cause distal hereditary motor neuropathy and axonal Charcot-Marie-Tooth disease...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.