Article
Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia.
Cellular signalling - 1 Aug 2008
Guo Changsheng, Degnin Catherine R, Laederich Melanie B, Lunstrum Gregory P, Holden Paul, Bihlmaier Jeanie, Krakow Deborah, Cho Yoon-Jae, Horton William A
Abstract excerpt
Thanatophoric dysplasia is a member of the achondroplasia family of human skeletal dysplasias, which result from FGFR3 mutations that exaggerate this receptor's inhibitory influence on chondrocyte proliferation and differentiation in the skeletal growth plate. We have previously reported that defective lysosomal degradation of activated receptor contributes to the gain-of-function of the mutant FGFR3. We now...
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