2026-08-05T15:45:32Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/176042024-05-17T10:17:30Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16927
Repisalud
author
Ramos-Molina, Bruno
author
Molina-Vega, María
author
Fernández-García, José Carlos
author
Creemers, John W
2024-02-08T14:41:28Z
2024-02-08T14:41:28Z
2018-06-07
10.3390/genes9060288
2073-4425
Genes
http://hdl.handle.net/10668/12563
29880780
http://hdl.handle.net/20.500.12105/17604
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.
eng
PCSK1 deficiency
Prader–Willi syndrome
Hyperphagia
Hypothalamus
Obesity
Hyperphagia and Obesity in Prader⁻Willi Syndrome: PCSK1 Deficiency and Beyond?
research article