ArticleRare diseases (Austin, Tex.)2013
Leptin signaling defects in a mouse model of Prader-Willi syndrome: An orphan genetic obesity syndrome no more?
Article in Rare diseases (Austin, Tex.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed.
- MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.Developmental medicine and child neurology · 2025Review
- Prader-Willi syndrome: Symptoms and topiramate response in light of genetics.Frontiers in neuroscience · 2023Article
- Proteins and proteases of Prader-Willi syndrome: a comprehensive review and perspectives.Bioscience reports · 2022Review
- The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways.Human molecular genetics · 2017Article
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Prader-Willi syndrome (PWS) is a rare (~1 in 12,000) genetic disorder that involves at least six genes on chromosome 15q11-q13. Children with PWS not only rapidly gain weight and become severely obese because of reduced voluntary activity and increased food intake, but also exhibit growth hormone deficiency, excessive daytime sleepiness, endocrine dysregulation and infertility. These phenotypes suggest dysfunction of the hypothalamus, the brain region that regulates short- and long-term energy balance and other body functions. The physiological basis for obesity in children with PWS has eluded researchers for decades. Mercer et al. now demonstrate that Magel2, the murine ortholog of one of the PWS genes, is a component of the hypothalamic leptin-melanocortin pathway that is critical for energy balance. Most interestingly, disruptions of other components of this pathway cause obesity in both mice and humans, suggesting a mechanistic link between PWS and other rare genetic forms of severe childhood-onset obesity.
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