Effect of the G346E Mutation on FGFR3 Activation
| Autor: | Nitish Niphadkar |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
musculoskeletal diseases
Genetics congenital hereditary and neonatal diseases and abnormalities Point mutation Biophysics Genetic disorder FGF1 Fibroblast growth factor receptor 3 Biology medicine.disease Blot stomatognathic diseases Mutation (genetic algorithm) medicine Achondroplasia Signal transduction |
| Zdroj: | Biophysical Journal. 100:419a |
| ISSN: | 0006-3495 |
| DOI: | 10.1016/j.bpj.2010.12.2480 |
| Popis: | Fibroblast Growth Factor Receptor 3 (FGFR3) plays an important role in signal transduction. The disturbance of its activation leads to pathologies, including genetic disorders such as Achondroplasia. A point mutation in FGFR3, G346E, was found to cause this genetic disorder but the physical-chemical basis behind the pathology remains unknown. We hypothesize that the G346E mutation causes achondroplasia by affecting FGFR3 activation. To test this hypothesis, we investigate the effect of the G346E mutation on FGFR3 phosphorylation in the presence and absence of the ligand FGF1, using Western Blots. In particular, we investigate how the mutation changes the activation propensity of FGFR3 by fitting the Western blot data to a physical-chemical model describing an apparent equilibrium between inactive monomers and active dimers. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|