Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy-Reference-Cited by-同舟云学术

Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy

Published:2023-04-12 Issue:9 Volume:66 Page:2152-2166
ISSN:1674-7305
Container-title:Science China Life Sciences
language:en
Short-container-title:Sci. China Life Sci.

Author:

Du Shiyue,Zeng Sheng,Song Li,Ma Hongying,Chen Rui,Luo Junyu,Wang Xu,Ma Tingbin,Xu Xuan,Sun Hao,Yi Ping,Guo Jifeng,Huang Yaling,Liu Mugen,Wang Tao,Liao Wei-Ping,Zhang Luoying,Liu Jing Yu,Tang Beisha

Publisher

Springer Science and Business Media LLC

Subject

General Agricultural and Biological Sciences,General Environmental Science,General Biochemistry, Genetics and Molecular Biology

Link

https://link.springer.com/content/pdf/10.1007/s11427-022-2313-1.pdf

Reference54 articles.

1. Baldassari, S., Picard, F., Verbeek, N.E., van Kempen, M., Brilstra, E.H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., et al. (2019). The landscape of epilepsy-related GATOR1 variants. Genet Med 21, 398–408.

2. Bar-Peled, L., Chantranupong, L., Cherniack, A.D., Chen, W.W., Ottina, K. A., Grabiner, B.C., Spear, E.D., Carter, S.L., Meyerson, M., and Sabatini, D.M. (2013). A tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. Science 340, 1100–1106.

3. Bedrosian, T.A., Miller, K.E., Grischow, O.E., Schieffer, K.M., LaHaye, S., Yoon, H., Miller, A.R., Navarro, J., Westfall, J., Leraas, K., et al. (2022). Detection of brain somatic variation in epilepsy-associated developmental lesions. Epilepsia 63, 1981–1997.

4. Brent, J.R., Werner, K.M., and McCabe, B.D. (2009). Drosophila larval NMJ dissection. J Vis Exp 24, e1107.

5. Bu, B., He, W., Song, L., and Zhang, L. (2019). Nuclear envelope protein MAN1 regulates the Drosophila circadian clock via period. Neurosci Bull 35, 969–978.

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. From Alpha-Thalassemia Trait to NPRL3-Related Epilepsy: A Genomic Diagnostic Odyssey;Genes;2024-06-25

2. AP-1 and SP1 trans-activate the expression of hepatic CYP1A1 and CYP2A6 in the bioactivation of AFB1 in chicken;Science China Life Sciences;2024-04-18

3. The Mechanism of Vascular Endothelial Dysfunction Induced by Ferroptosis Mediated by NARFL Knockout;2024-02-08