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

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,...

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Detalles Bibliográficos
Autores principales: Crutcher, Emeline, Pal, Rituraj, Naini, Fatemeh, Zhang, Ping, Laugsch, Magdalena, Kim, Jean, Bajic, Aleksandar, Schaaf, Christian P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6828689/
https://www.ncbi.nlm.nih.gov/pubmed/31685878
http://dx.doi.org/10.1038/s41598-019-52287-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6828689/
https://www.ncbi.nlm.nih.gov/pubmed/31685878
http://dx.doi.org/10.1038/s41598-019-52287-2

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