NFB-16. mTOROPATHIES AND SUBEPENDYMAL GIANT CELL ASTROCYTOMAS: PREDICTIVE VALUE OF GERMINAL TSC1/2 MUTATIONS SCREENING IN FAMILIAL CASES

mTOR controls several important aspects of cell function particularly in the nervous system. Its hyperactivation has been involved in tuberous sclerosis complex (TSC) and other mTORopathies as well as drug-resistant epilepsy. Mutations in TSC1 and TSC2 genes cause loss of normal inhibition of mTORC1...

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Bibliographische Detailangaben
Veröffentlicht in:Neuro Oncol
Hauptverfasser: Abdelmoula, Nouha Bouayed, Smaoui, Walid, Abdelmoula, Balkiss, Aloulou, Samir, Masmoudi, Imen, Bouaziz, Imen, Lamloum, Ines, Chaari, Hadil, Yaich, Asma, Dhouib, Rafik, Sellami, Sonia, Keskes, Mariem, Fellah, Sourour, Khlifi, Khawla, Medhioub, Amir, Mhiri, Nabil
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2020
Schlagworte:
Neurofibromatosis
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7715975/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/neuonc/noaa222.618
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