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

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

Abstract 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, inc...

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Bibliographic Details
Main Authors: Ya-Yun Cheng, Ying-Tsen Chou, Feng-Jie Lai, Ming-Shiou Jan, Tsung-Hao Chang, I-Ming Jou, Pei-Shiuan Chen, Jui-Yen Lo, Shiang-Suo Huang, Nan-Shan Chang, Yung-Tsai Liou, Po-Chih Hsu, Hui-Ching Cheng, Yee-Shin Lin, Li-Jin Hsu
Format: Article
Language:English
Published: BMC 2020-01-01
Series:Acta Neuropathologica Communications
Subjects:
Common chromosomal fragile site
Brain malformations
Neuronal degeneration
Schwann cell apoptosis
Epilepsy
Online Access:https://doi.org/10.1186/s40478-020-0883-3

Internet

https://doi.org/10.1186/s40478-020-0883-3

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