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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Detalhes bibliográficos
Publicado no:JCI Insight
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7526459/
https://ncbi.nlm.nih.gov/pubmed/32879135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.138576
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