Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex.

by Arthur Jorge Santiago Lima, Marianne Hoogeveen-Westerveld, Akio Nakashima, Anneke Maat-Kievit, Ans van den Ouweland, Dicky Halley, Ushio Kikkawa, Mark Nellist
Published 2014-01-01

RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity.

by Martina Proietti Onori, Linda M C Koene, Carmen B Schäfer, Mark Nellist, Marcel de Brito van Velze, Zhenyu Gao, Ype Elgersma, Geeske M van Woerden
Published 2021-05-01

Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.

by Aaron D Besterman, Thorsten Althoff, Peter Elfferich, Irma Gutierrez-Mejia, Joshua Sadik, Jonathan A Bernstein, Yvette van Ierland, Anja A Kattentidt-Mouravieva, Mark Nellist, Jeff Abramson, Julian A Martinez-Agosto
Published 2021-07-01