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Article

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

JCI insight - 3 Sept 2020

Chen Helen, Victor A Kaitlyn, Klein Jonathon, Tacer Klementina Fon, Tai Derek Jc, 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

Abstract excerpt

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 unknown. Here, we report deficits in secretory granule (SG) abundance and bioactive neuropeptide production upon...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32879135
DOI: 10.1172/jci.insight.138576
PMCID: PMC7526459

Genes

MAGEL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production.PMID 32879135Read ↗

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