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Article

A human obesity-associated MC4R mutation with defective Gq/11α signaling leads to hyperphagia in mice.

The Journal of clinical investigation - 4 Jan 2024

Metzger Peter J, Zhang Aileen, Carlson Bradley A, Sun Hui, Cui Zhenzhong, Li Yongqi, Jahnke Marshal T, Layton Daniel R, Gupta Meenakshi B, Liu Naili, Kostenis Evi, Gavrilova Oksana, Chen Min, Weinstein Lee S

Abstract excerpt

Melanocortin 4 receptor (MC4R) mutations are the most common cause of human monogenic obesity and are associated with hyperphagia and increased linear growth. While MC4R is known to activate Gsα/cAMP signaling, a substantial proportion of obesity-associated MC4R mutations do not affect MC4R/Gsα signaling. To further explore the role of specific MC4R signaling pathways in the regulation of energy balance, we...

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Identifiers

PMID: 38175730
DOI: 10.1172/JCI165418
PMCID: PMC10869179

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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