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Berger, C.* ; Klöting, N.

Leptin receptor compound heterozygosity in humans and animal models.

Int. J. Mol. Sci. 22:4475 (2021)
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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 heterozygous mutation within the leptin receptor, resulting in a considerably more obese phenotype than described for the homozygous leptin receptor deficient mice. Accordingly, we focus on compound heterozygous mutations of the leptin receptor and their effects on health, as well as possible therapy options in human and animal models in this review.
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Publication type Article: Journal article
Document type Review
Keywords Compound Heterozygous Mutation ; Leptin Receptor ; Mouse Model; Janus Kinase/signal Transducer; Early-onset Obesity; Signal Transducer; Mutations; Gene; Lepr; Identification; Activation; Homeostasis; Deficiency
ISSN (print) / ISBN 1422-0067
e-ISSN 1661-6596
Quellenangaben Volume: 22, Issue: 9, Pages: , Article Number: 4475 Supplement: ,
Publisher MDPI
Publishing Place Basel
Reviewing status Peer reviewed
Institute(s) Helmholtz Institute for Metabolism, Obesity and Vascular Research (HI-MAG)
Grants Deutsche Forschungsgemeinschaft (DFG, German Research Foun-dation)