Article
A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding.
PloS one - 1 Jan 2012
Granell Susana, Serra-Juhé Clara, Martos-Moreno Gabriel Á, Díaz Francisca, Pérez-Jurado Luis A, Baldini Giulia, Argente Jesús
Abstract excerpt
Heterozygous mutations in the melanocortin-4 receptor (MC4R) gene represent the most frequent cause of monogenic obesity in humans. MC4R mutation analysis in a cohort of 77 children with morbid obesity identified previously unreported heterozygous mutations (P272L, N74I) in two patients inherited from their obese mothers. A rare polymorphism (I251L, allelic frequency: 1/100) reported to protect against obesity...
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