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Human Mutation|November 5, 2014
Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsyMelissa van Kranenburg, Marianne Hoogeveen-Westerveld, Mark NellistBiochimica Et Biophysica Acta|August 21, 2016
TSC2 N-terminal lysine acetylation status affects to its stability modulating mTORC1 signaling and autophagyAna García-Aguilar, Carlos Guillén, Mark Nellist, et al.Epilepsy Research|August 8, 2012
Central TSC2 missense mutations are associated with a reduced risk of infantile spasmsAgnies M van Eeghen, Mark Nellist, Elmer E van Eeghen, et al.The Journal of Biological Chemistry|February 20, 2016
Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7)Jiayue Qin, Zhizhi Wang, Marianne Hoogeveen-Westerveld, et al.Biochimica Et Biophysica Acta|June 16, 2010
Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interactionMarianne Hoogeveen-Westerveld, Carla Exalto, Anneke Maat-Kievit, et al.BMC Biochemistry|September 26, 2012
The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunitsMarianne Hoogeveen-Westerveld, Leontine van Unen, Ans van den Ouweland, et al.Journal of Molecular Cell Biology|January 23, 2016
Structure of the TBC1D7-TSC1 complex reveals that TBC1D7 stabilizes dimerization of the TSC1 C-terminal coiled coil regionZhongchao Gai, Wendan Chu, Wei Deng, et al.European Journal of Human Genetics : EJHG|October 16, 2008
A reliable cell-based assay for testing unclassified TSC2 gene variantsRicardo Coevoets, Sermin Arican, Marianne Hoogeveen-Westerveld, et al.Journal of Neuropathology and Experimental Neurology|November 18, 2009
Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitroCéline Lugnier, Michael Majores, Jana Fassunke, et al.Biochemical and Biophysical Research Communications|June 21, 2005
Phosphorylation and binding partner analysis of the TSC1-TSC2 complexMark Nellist, Peter C Burgers, Ans M W van den Ouweland, et al.Pageof 6