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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Dades bibliogràfiques
Publicat a:Neuro Oncol
Autors principals: 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
Idioma:Inglês
Publicat: Oxford University Press 2020
Matèries:
Neurofibromatosis
Accés en línia: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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