Hyperactivation of mTORC1 in a double hit mutant zebrafish model of tuberous sclerosis complex causes increased seizure susceptibility and neurodevelopmental abnormalities

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder caused by pathogenic variants in TSC1 and TSC2 genes. TSC patients present with seizures and brain abnormalities such as tubers and subependymal giant cells astrocytoma (SEGA). Despite common molecular and clinical features, the seve...

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Detalles Bibliográficos
Autores principales: De Meulemeester, Ann-Sofie, Heylen, Lise, Siekierska, Aleksandra, Mills, James D., Romagnolo, Alessia, Van Der Wel, Nicole N., Aronica, Eleonora, de Witte, Peter A. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9552079/
https://www.ncbi.nlm.nih.gov/pubmed/36238691
http://dx.doi.org/10.3389/fcell.2022.952832

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