Article

Mouse models for V103I and I251L gain of function variants of the human MC4R display reduced adiposity and are not protected from a hypercaloric diet

2020-08-25

Abstract excerpt

<h4>Objective</h4> The melanocortin 4 receptor (MC4R) is a G protein-coupled receptor that plays major roles in the central control of energy balance. Loss-of-function mutations of MC4R constitute the most common monogenic cause of early-onset extreme obesity in humans, whereas gain-of-function mutations appear to be protective. In particular, two relatively frequent alleles carrying the non-synonymous coding mut...

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Literature Corpus work: caaf1f47-173c-5c3a-8032-dd40f94b54fe
DOI: 10.1101/2020.08.25.266866

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