Ontology highlight
ABSTRACT:
SUBMITTER: Mills JD
PROVIDER: S-EPMC5556011 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Mills James D JD Iyer Anand M AM van Scheppingen Jackelien J Bongaarts Anika A Anink Jasper J JJ Janssen Bart B Zimmer Till S TS Spliet Wim G WG van Rijen Peter C PC Jansen Floor E FE Feucht Martha M Hainfellner Johannes A JA Krsek Pavel P Zamecnik Josef J Kotulska Katarzyna K Jozwiak Sergiusz S Jansen Anna A Lagae Lieven L Curatolo Paolo P Kwiatkowski David J DJ Pasterkamp R Jeroen RJ Senthilkumar Ketharini K von Oerthel Lars L Hoekman Marco F MF Gorter Jan A JA Crino Peter B PB Mühlebner Angelika A Scicluna Brendon P BP Aronica Eleonora E
Scientific reports 20170814 1
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 presented study we used high-throughput RNA sequencing in combination with systems-based co ...[more]