Analysis of epilepsy‐associated variants in HCN3 – Functional implications and clinical observations

Autor: Peiwei Zhao, Hongbo Xiong, Gunagtao Kuang, Chen Sun, Xiankai Zhang, Yufeng Huang, Sukun Luo, Lei Zhang, Jun Jiang, Xuelian He

Publikováno v: Epilepsia Open, Vol 9, Iss 6, Pp 2294-2305 (2024)

Abstract Objective This case study investigates the role of hyperpolarization‐activated, cyclic nucleotide‐gated (HCN) ion channels, which are integral membrane proteins crucial for regulating neuronal excitability. HCN channels are composed of f

Externí odkaz: https://doaj.org/article/fd626c99c91646cebdc68533bd5178a1

Enhanced cyclic stability of LiNi0.8Co0.1Mn0.1O2 (NCM811) by AlF3 coating via atomic layer deposition

Autor: Chengsheng Yang, Yuyu Li, Xuanxuan Zhang, Jingjing Xiao, Hongbo Xiong, Weizhe Li, Pingmei Guo, Zehui Yang, Ming Xie

Publikováno v: Ionics. 28:4547-4554

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3531d9813b56aaf50d02e079e2837e02
https://doi.org/10.1007/s11581-022-04691-4

Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang–Wang syndrome

Autor: Lina Liang, Huihui Liu, Deborah Bartholdi, Arie van Haeringen, Alberto Fernandez‐Jaén, Els E. A. Peeters, Hongbo Xiong, Xuemei Bai, Chengqi Xu, Tie Ke, Qing K. Wang

Publikováno v: Acta Physiologica, 235(1). WILEY
Liang, Lina; Liu, Huihui; Bartholdi, Deborah; van Haeringen, Arie; Fernandez-Jaén, Alberto; Peeters, Els E A; Xiong, Hongbo; Bai, Xuemei; Xu, Chengqi; Ke, Tie; Wang, Qing K (2022). Identification and Functional Analysis of Two New De Novo KCNMA1 Variants Associated with Liang-Wang syndrome. Acta physiologica, 235(1), e13800. Wiley 10.1111/apha.13800

AIM Loss-of-function KCNMA1 variants cause Liang-Wang syndrome (MIM #618729), a newly-identified multiple malformation syndrome with a broad spectrum of developmental and neurological phenotypes. However, the full spectrum of clinical features and un

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1aea730de4d449bbceea78c574e8c447
https://doi.org/10.1111/apha.13800

UBC9 regulates cardiac sodium channel Nav1.5 ubiquitination, degradation and sodium current density

Autor: Lina Liang, Chen Cheng, Hongbo Xiong, Bo Tang, Qing Kenneth Wang, Qiuyun Chen, Chengqi Xu, Chunyan Luo, Y. T. Hu, Pengyun Wang, Zhijie Wang

Publikováno v: Journal of Molecular and Cellular Cardiology. 129:79-91

Voltage-gated sodium channel Nav1.5 is critical for generation and conduction of cardiac action potentials. Mutations and expression level changes of Nav1.5 are associated with cardiac arrhythmias and sudden death. The ubiquitin (Ub) conjugation mach

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::83b69c810f739c89246222d6997afd4e
https://doi.org/10.1016/j.yjmcc.2019.02.007

Mechanistic insights into the interaction of cardiac sodium channel Na

Autor: Hongbo, Xiong, Xuemei, Bai, Zhuang, Quan, Dong, Yu, Hongfu, Zhang, Chi, Zhang, Lina, Liang, Yufeng, Yao, Qin, Yang, Zhijie, Wang, Longfei, Wang, Yuan, Huang, Hui, Li, Xiang, Ren, Xin, Tu, Tie, Ke, Chengqi, Xu, Qing K, Wang

Publikováno v: Heart rhythm. 19(3)

Mutations in cardiac sodium channel NaThe purpose of this study was to identify structural elements involved in MOG1-NaSystematic analyses of large deletions, microdeletions, and point mutations, and glutathione S-transferases pull-down, co-immunopre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e466e9242223d32b36ca588ed20e7f43
https://pubmed.ncbi.nlm.nih.gov/34843967