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

doi:10.1038/s41598-017-06145-8

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Article

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

Scientific reports - 14 Aug 2017

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

Abstract excerpt

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 are believed to represent the neuropathological substrates of these disabling manifestations in TSC. In the...

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PMID: 28808237
DOI: 10.1038/s41598-017-06145-8
PMCID: PMC5556011

Genes

TSC1
TSC2

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