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...
Main Authors: | Helen Chen, A. Kaitlyn Victor, Jonathon Klein, Klementina Fon Tacer, Derek J.C. Tai, Celine de Esch, Alexander Nuttle, Jamshid Temirov, Lisa C. Burnett, Michael Rosenbaum, Yiying Zhang, Li Ding, James J. Moresco, Jolene K. Diedrich, John R. Yates III, Heather S. Tillman, Rudolph L. Leibel, Michael E. Talkowski, Daniel D. Billadeau, Lawrence T. Reiter, Patrick Ryan Potts |
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Format: | Article |
Language: | English |
Published: |
American Society for Clinical investigation
2020-09-01
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Series: | JCI Insight |
Subjects: | |
Online Access: | https://doi.org/10.1172/jci.insight.138576 |
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