Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease

There have been increasing number of reports of SZT2-related neurological diseases, the main symptoms of which are epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum. SZT2 functions as a regulator of mechanistic target of rapamycin complex 1 (mTORC1) signaling in cultured h...

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Detalles Bibliográficos
Autores principales: Nakamura, Yuji, Kato, Kohji, Tsuchida, Naomi, Matsumoto, Naomichi, Takahashi, Yoshiyuki, Saitoh, Shinji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6701784/
https://www.ncbi.nlm.nih.gov/pubmed/31430354
http://dx.doi.org/10.1371/journal.pone.0221482

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6701784/
https://www.ncbi.nlm.nih.gov/pubmed/31430354
http://dx.doi.org/10.1371/journal.pone.0221482

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