Article
Uncovering the molecular mechanisms behind disease-associated leptin variants.
The Journal of biological chemistry - 17 Aug 2018
Haglund Ellinor, Nguyen Lannie, Schafer Nicholas Peter, Lammert Heiko, Jennings Patricia Ann, Onuchic José Nelson
Abstract excerpt
The pleiotropic hormone leptin has a pivotal role in regulating energy balance by inhibiting hunger and increasing energy expenditure. Homozygous mutations found in the leptin gene are associated with extreme obesity, marked hyperphagia, and impaired immune function. Although these mutations have been characterized in vivo, a detailed understanding of how they affect leptin structure and function remains elusive....
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