RT Journal Article
T1 Hyperphagia and Obesity in Prader⁻Willi Syndrome: PCSK1 Deficiency and Beyond?
A1 Ramos-Molina, Bruno
A1 Molina-Vega, María
A1 Fernández-García, José C
A1 Creemers, John W
K1 PCSK1 deficiency
K1 Prader–Willi syndrome
K1 hyperphagia
K1 hypothalamus
K1 obesity
AB 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.
SN 2073-4425
YR 2018
FD 2018-06-07
LK https://hdl.handle.net/10668/26489
UL https://hdl.handle.net/10668/26489
LA en
DS RISalud
RD Apr 5, 2025