Article
Functional characterization and pharmacological rescue of melanocortin-4 receptor mutations identified from obese patients.
Journal of cellular and molecular medicine - 1 Sept 2009
Fan Zhen-Chuan, Tao Ya-Xiong
Abstract excerpt
As the most common monogenic form of human obesity, about 130 naturally occurring melanocortin-4 receptor (MC4R) gene mutations have been identified. In this study, we reported detailed functional characterization of 10 novel human MC4R (hMC4R) mutants including R7C, C84R, S127L, S136F, W174C, A219V, P230L, F261S, I317V and L325F. Flow cytometry experiments showed that six mutants, including R7C, C84R, S127L,...
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