Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia

Mutations of fibroblast growth factor receptor 3 (FGFR3) are responsible for achondroplasia (ACH) and related dwarfing conditions in humans. The pathogenesis involves constitutive activation of FGFR3, which inhibits proliferation and differentiation of growth plate chondrocytes. Here we report that...

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Pubblicato in:	Proc Natl Acad Sci U S A
Autori principali:	Cho, Jay Y., Guo, Changsheng, Torello, Monica, Lunstrum, Gregory P., Iwata, Tomoko, Deng, Chuxia, Horton, William A.
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	National Academy of Sciences 2003
Soggetti:	Biological Sciences
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC327195/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/14699054/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.2237184100
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