Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

by Taimoor I. Sheikh, Nasim Vasli, Stephen Pastore, Kimia Kharizi, Ricardo Harripaul, Zohreh Fattahi, Shruti Pande, Farooq Naeem, Abrar Hussain, Asif Mir, Omar Islam, Katta Mohan Girisha, Muhammad Irfan, Muhammad Ayub, Christoph Schwarzer, Hossein Najmabadi, Anju Shukla, Valentina C. Sladky, Vincent Zoran Braun, Irmina Garcia-Carpio, Andreas Villunger, John B. Vincent
Published 2021-01-01

MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2

by Alexia Martínez de Paz, Leila Khajavi, Hélène Martin, Rafael Claveria-Gimeno, Susanne Tom Dieck, Manjinder S. Cheema, Jose V. Sanchez-Mut, Malgorzata M. Moksa, Annaick Carles, Nick I. Brodie, Taimoor I. Sheikh, Melissa E. Freeman, Evgeniy V. Petrotchenko, Christoph H. Borchers, Erin M. Schuman, Matthias Zytnicki, Adrian Velazquez-Campoy, Olga Abian, Martin Hirst, Manel Esteller, John B. Vincent, Cécile E. Malnou, Juan Ausió
Published 2019-10-01