Mutations in CRADD result in reduced caspase-2-mediated neuronal apoptosis and cause megalencephaly with a rare lissencephaly variant

Autor: Steven Gottlieb, Kevin A. Strauss, Rachel M. Johnson, Kathleen J. Millen, Ying Y. Jean, Deborah Bartholdi, Karlla W. Brigatti, Erik G. Puffenberger, A. Murat Maga, Agnieszka M. Czaja, Sarah Collins, Carol M. Troy, Amy Goldstein, Anke Nissen, Jessi A. Stover, Carissa Olds, Alison B. Shupp, Achira Roy, Ghayda M. Mirzaa, Robert N. Jinks, Rebecca A. Willert, Kimberly A. Aldinger, Briana D. Krewson, Victoria Boyd-Kyle, William B. Dobyns, Maria I. Avrutsky, Nataliya Di Donato, Anita Rauch

Publikováno v: Di Donato, Nataliya; Jean, Ying Y; Maga, A Murat; Krewson, Briana D; Shupp, Alison B; Avrutsky, Maria I; Roy, Achira; Collins, Sarah; Olds, Carissa; Willert, Rebecca A; Czaja, Agnieszka M; Johnson, Rachel; Stover, Jessi A; Gottlieb, Steven; Bartholdi, Deborah; Rauch, Anita; Goldstein, Amy; Boyd-Kyle, Victoria; Aldinger, Kimberly A; Mirzaa, Ghayda M; ... (2016). Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. American journal of human genetics, 99(5), pp. 1117-1129. Cell Press 10.1016/j.ajhg.2016.09.010

Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, fr

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https://www.zora.uzh.ch/id/eprint/133429/