Article
Leptin Receptor Compound Heterozygosity in Humans and Animal Models.
International journal of molecular sciences - 25 Apr 2021
Berger Claudia, Klöting Nora
Abstract excerpt
Leptin and its receptor are essential for regulating food intake, energy expenditure, glucose homeostasis and fertility. Mutations within leptin or the leptin receptor cause early-onset obesity and hyperphagia, as described in human and animal models. The effect of both heterozygous and homozygous variants is much more investigated than compound heterozygous ones. Recently, we discovered a spontaneous compound...
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