Article
A quantitative pipeline to assess secretion of human leptin coding variants reveals mechanisms underlying leptin deficiencies.
The Journal of biological chemistry - 1 Aug 2024
Baird Harry J M, Shun-Shion Amber S, Mendes de Oliveira Edson, Stalder Danièle, Liang Lu, Eden Jessica, Chambers Joseph E, Farooqi I Sadaf, Gershlick David C, Fazakerley Daniel J
Abstract excerpt
The hormone leptin, primarily secreted by adipocytes, plays a crucial role in regulating whole-body energy homeostasis. Homozygous loss-of-function mutations in the leptin gene (LEP) cause hyperphagia and severe obesity, primarily through alterations in leptin's affinity for its receptor or changes in serum leptin concentrations. Although serum concentrations are influenced by various factors (e.g., gene...
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