Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

Abstract Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that results from a mutation in the TSC1 or TSC2 genes leading to constitutive activation of the mechanistic target of rapamycin complex 1 (mTORC1). TSC is associated with autism, intellectual disability and severe epilepsy. Cortic...

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Autores principales: James D. Mills, Anand M. Iyer, Jackelien van Scheppingen, Anika Bongaarts, Jasper J. Anink, Bart Janssen, Till S. Zimmer, Wim G. Spliet, Peter C. van Rijen, Floor E. Jansen, Martha Feucht, Johannes A. Hainfellner, Pavel Krsek, Josef Zamecnik, Katarzyna Kotulska, Sergiusz Jozwiak, Anna Jansen, Lieven Lagae, Paolo Curatolo, David J. Kwiatkowski, R. Jeroen Pasterkamp, Ketharini Senthilkumar, Lars von Oerthel, Marco F. Hoekman, Jan A. Gorter, Peter B. Crino, Angelika Mühlebner, Brendon P. Scicluna, Eleonora Aronica
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/201057c7a40346ccbc3ef966170890fc
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