Article
Pharmacological chaperones for the misfolded melanocortin-4 receptor associated with human obesity.
Biochimica et biophysica acta. Molecular basis of disease - 1 Oct 2017
Huang Hui, Wang Wei, Tao Ya-Xiong
Abstract excerpt
The melanocortin-4 receptor (MC4R) plays a vital role in regulating energy homeostasis. Mutations in the MC4R cause early-onset severe obesity. The majority of loss of function MC4R mutants are retained intracellularly, many of which are not terminally misfolded and can be stabilized and targeted to the plasma membrane by different chaperones. Some of the mutants might be functional once coaxed to the cell...
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