Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

Autor: Di Donato N; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA. Electronic address: nataliya.didonato@uniklinikum-dresden.de., Jean YY; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA., Maga AM; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98105, USA; Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98105, USA., Krewson BD; Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA 17604, USA., Shupp AB; Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA 17604, USA., Avrutsky MI; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA., Roy A; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA., Collins S; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA., Olds C; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA., Willert RA; Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA 17604, USA., Czaja AM; Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA 17604, USA., Johnson R; Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA 17604, USA., Stover JA; Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA 17604, USA., Gottlieb S; Division of Pediatric Neurology, Nemours Alfred I. DuPont Hospital for Children, Wilmington, DE 19803, USA., Bartholdi D; Department of Human Genetics, Inselspital, 3010 Bern, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland., Goldstein A; Department of Pediatrics, School of Medicine, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA., Boyd-Kyle V; Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA 17604, USA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA., Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Nissen A; Medical Genetics Center, 80335 Munich, Germany., Brigatti KW; Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA 17604, USA; Clinic for Special Children, Strasburg, PA 17579, USA., Puffenberger EG; Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA 17604, USA; Clinic for Special Children, Strasburg, PA 17579, USA., Millen KJ; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA., Strauss KA; Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA 17604, USA; Clinic for Special Children, Strasburg, PA 17579, USA; Lancaster General Hospital, Lancaster, PA 17602, USA., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Neurology, University of Washington, Seattle, WA 98195, USA., Troy CM; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA; The Taub Institute for Research on Alzheimer Disease and the Aging Brain, Columbia University Medical Center; Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA., Jinks RN; Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA 17604, USA. Electronic address: rjinks@fandm.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2016 Nov 03; Vol. 99 (5), pp. 1117-1129. Date of Electronic Publication: 2016 Oct 20.