Article
Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.
Nature - 1 Feb 2025
Zhang Ce, Liang Dan, Ercan-Sencicek A Gulhan, Bulut Aybike S, Cortes Joelly, Cheng Iris Q, Henegariu Octavian, Nishimura Sayoko, Wang Xinyuan, Peksen A Buket, Takeo Yutaka, Caglar Caner, Lam TuKiet T, Koroglu Merve Nur, Narayanan Anand, Lopez-Giraldez Francesc, Miyagishima Danielle F, Mishra-Gorur Ketu, Barak Tanyeri, Yasuno Katsuhito, Erson-Omay E Zeynep, Yalcinkaya Cengiz, Wang Guilin, Mane Shrikant, Kaymakcalan Hande, Guzel Aslan, Caglayan A Okay, Tuysuz Beyhan, Sestan Nenad, Gunel Murat, Louvi Angeliki, Bilguvar Kaya
Abstract excerpt
Cerebral cortex development in humans is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure of the cerebral cortex, resulting in a range of neurological conditions1. Lissencephaly ('smooth brain') spectrum disorders comprise a group of rare, genetically heterogeneous congenital brain malformations...
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