Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production

Prader-Willi syndrome (PWS) is a developmental disorder caused by loss of maternally imprinted genes on 15q11-q13, including melanoma antigen gene family member L2 (MAGEL2). The clinical phenotypes of PWS suggest impaired hypothalamic neuroendocrine function; however, the exact cellular defects are...

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Detalles Bibliográficos
Autores principales: Chen, Helen, Victor, A. Kaitlyn, Klein, Jonathon, Tacer, Klementina Fon, Tai, Derek J.C., de Esch, Celine, Nuttle, Alexander, Temirov, Jamshid, Burnett, Lisa C., Rosenbaum, Michael, Zhang, Yiying, Ding, Li, Moresco, James J., Diedrich, Jolene K., Yates, John R., Tillman, Heather S., Leibel, Rudolph L., Talkowski, Michael E., Billadeau, Daniel D., Reiter, Lawrence T., Potts, Patrick Ryan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526459/
https://www.ncbi.nlm.nih.gov/pubmed/32879135
http://dx.doi.org/10.1172/jci.insight.138576

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