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oai:repisalud.isciii.es:20.500.12105/176042024-05-17T10:17:30Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16927

00925njm 22002777a 4500 dc Ramos-Molina, Bruno author Molina-Vega, María author Fernández-García, José Carlos author Creemers, John W author 2018-06-07 Prader⁻Willi syndrome (PWS) is a complex genetic disorder that, besides cognitive impairments, is characterized by hyperphagia, obesity, hypogonadism, and growth impairment. Proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency, a rare recessive congenital disorder, partially overlaps phenotypically with PWS, but both genetic disorders show clear dissimilarities as well. The recent observation that PCSK1 is downregulated in a model of human PWS suggests that overlapping pathways are affected. In this review we will not only discuss the mechanisms by which PWS and PCSK1 deficiency could lead to hyperphagia but also the therapeutic interventions to treat obesity in both genetic disorders. 10.3390/genes9060288 2073-4425 Genes http://hdl.handle.net/10668/12563 29880780 http://hdl.handle.net/20.500.12105/17604 PCSK1 deficiency Prader–Willi syndrome Hyperphagia Hypothalamus Obesity Hyperphagia and Obesity in Prader⁻Willi Syndrome: PCSK1 Deficiency and Beyond?