Brain organoid models of SZT2-related disease reveal an overproduction of outer radial glial cells through mTORC1 activation

Abstract Biallelic loss-of-function variants of Seizure Threshold 2 (SZT2) cause neurodevelopmental diseases with developmental delay, epilepsy, and macrocephaly. SZT2 forms the KICSTOR complex, which represses the mechanistic target of rapamycin complex 1 (mTORC1) amino acid-sensitive pathway. SZT2...

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Principais autores:	Emi Sato, Yuji Nakamura, Masanori Fujimoto, Issei S. Shimada, Toshihiko Iwaki, Daisuke Ieda, Yutaka Negishi, Ayako Hattori, Yoichi Kato, Shinji Saitoh
Format:	Artigo
Jezik:	Inglês
Izdano:	Nature Portfolio 2026-01-01
Serija:	Scientific Reports
Teme:	Cerebral organoids Outer radial glia Basal radial glia Neurogenesis Developmental and epileptic encephalopathy 18 (DEE18)
Online dostop:	https://doi.org/10.1038/s41598-026-35733-w
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