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

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. Cortical tubers...

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Publicat a:Sci Rep
Autors principals: Mills, James D., Iyer, Anand M., van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper J., Janssen, Bart, Zimmer, Till S., Spliet, Wim G., van Rijen, Peter C., Jansen, Floor E., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Kotulska, Katarzyna, Jozwiak, Sergiusz, Jansen, Anna, Lagae, Lieven, Curatolo, Paolo, Kwiatkowski, David J., Pasterkamp, R. Jeroen, Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F., Gorter, Jan A., Crino, Peter B., Mühlebner, Angelika, Scicluna, Brendon P., Aronica, Eleonora
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2017
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5556011/
https://ncbi.nlm.nih.gov/pubmed/28808237
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-06145-8
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