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

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 d...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Burnett, Lisa C., LeDuc, Charles A., Sulsona, Carlos R., Paull, Daniel, Rausch, Richard, Eddiry, Sanaa, Carli, Jayne F. Martin, Morabito, Michael V., Skowronski, Alicja A., Hubner, Gabriela, Zimmer, Matthew, Wang, Liheng, Day, Robert, Levy, Brynn, Fennoy, Ilene, Dubern, Beatrice, Poitou, Christine, Clement, Karine, Butler, Merlin G., Rosenbaum, Michael, Salles, Jean Pierre, Tauber, Maithe, Driscoll, Daniel J., Egli, Dieter, Leibel, Rudolph L.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2016
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5199710/
https://ncbi.nlm.nih.gov/pubmed/27941249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI88648
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