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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Bibliografski detalji
Izdano u:J Clin Invest
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: American Society for Clinical Investigation 2016
Teme:
Research Article
Online pristup: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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