Article
The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum.
The Journal of biological chemistry - 9 May 2003
Lievens Patricia M-J, Liboi Elio
Abstract excerpt
The K650E substitution in the fibroblast growth factor receptor 3 (FGFR3) causes constitutive tyrosine kinase activity of the receptor and is associated to the lethal skeletal disorder, thanatophoric dysplasia type II (TDII). The underlying mechanisms of how the activated FGFR3 causes TDII remains to be elucidated. FGFR3 is a transmembrane glycoprotein, which is synthesized through three isoforms, with various...
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