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Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome

11 Dec 2016

Abstract excerpt

Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an imprinted region of chromosome 15q. Among the canonical PWS phenotypes are hyperphagic obesity, central hypogonadism, and low growth hormone (GH). Rare microdeletions in PWS patients define a 91-kb minimum critical deletion region encompassing 3 genes, including the noncoding RNA gene SNORD116. Here, we found that protein and...

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PMID: 27941249
DOI: 10.1172/jci88648

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