Wwox deficiency leads to neurodevelopmental and degenerative neuropathies and glycogen synthase kinase 3β-mediated epileptic seizure activity in mice

• Published in: Acta neuropathologica communications Vol. 8; no. 1; pp. 6 - 16
• Main Authors: Cheng, Ya-Yun, Chou, Ying-Tsen, Lai, Feng-Jie, Jan, Ming-Shiou, Chang, Tsung-Hao, Jou, I-Ming, Chen, Pei-Shiuan, Lo, Jui-Yen, Huang, Shiang-Suo, Chang, Nan-Shan, Liou, Yung-Tsai, Hsu, Po-Chih, Cheng, Hui-Ching, Lin, Yee-Shin, Hsu, Li-Jin
• Format: Journal Article
• Language: English
• Published: England BioMed Central 30.01.2020; BMC
• Subjects: Animals; Apoptosis; Ataxia; Brain; Brain - enzymology; Brain - pathology; Brain malformations; Cell Movement; Common chromosomal fragile site; Convulsions & seizures; Epilepsy; Epilepsy - enzymology; Epilepsy - genetics; Ethanol; Genes; Glycogen Synthase Kinase 3 beta - metabolism; Kinases; Metabolism; Mice, Knockout; Microscopy; Mutation; Neurodevelopmental disorders; Neurodevelopmental Disorders - enzymology; Neurodevelopmental Disorders - genetics; Neuronal degeneration; Neurons - pathology; Peripheral Nerves - ultrastructure; Phosphorylation; Proteins; Pyramidal Tracts - physiopathology; Rodents; Schwann cell apoptosis; Schwann Cells - pathology; Seizures - enzymology; Seizures - genetics; Transcription factors; WW Domain-Containing Oxidoreductase - genetics; Japan; Common chromosomal fragile site; Neuronal degeneration; Brain malformations; Schwann cell apoptosis; Epilepsy

Human WWOX gene resides in the chromosomal common fragile site FRA16D and encodes a tumor suppressor WW domain-containing oxidoreductase. Loss-of-function mutations in both alleles of WWOX gene lead to autosomal recessive abnormalities in pediatric patients from consanguineous families, including mi...