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

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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Acta Neuropathol Commun
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2020
Pynciau:
Research
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6990504/
https://ncbi.nlm.nih.gov/pubmed/32000863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-020-0883-3
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