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

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 fr...

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Detalles Bibliográficos
Autores principales: Granell, Susana, Serra-Juhé, Clara, Martos-Moreno, Gabriel Á., Díaz, Francisca, Pérez-Jurado, Luis A., Baldini, Giulia, Argente, Jesús
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520997/
https://www.ncbi.nlm.nih.gov/pubmed/23251400
http://dx.doi.org/10.1371/journal.pone.0050894

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520997/
https://www.ncbi.nlm.nih.gov/pubmed/23251400
http://dx.doi.org/10.1371/journal.pone.0050894

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