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Article

mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome.

Scientific reports - 4 Nov 2019

Crutcher Emeline, Pal Rituraj, Naini Fatemeh, Zhang Ping, Laugsch Magdalena, Kim Jean, Bajic Aleksandar, Schaaf Christian P

Abstract excerpt

MAGEL2 is a maternally imprinted, paternally expressed gene, located in the Prader-Willi region of human chromosome 15. Pathogenic variants in the paternal copy of MAGEL2 cause Schaaf-Yang syndrome (SHFYNG), a neurodevelopmental disorder related to Prader-Willi syndrome (PWS). Patients with SHFYNG, like PWS, manifest neonatal hypotonia, feeding difficulties, hypogonadism, intellectual disability and sleep apnea....

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Identifiers

PMID: 31685878
DOI: 10.1038/s41598-019-52287-2
PMCID: PMC6828689

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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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