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Unveiling β Subunit-Dependent Gating Defects in Ca2.1 Channelopathies: Investigation of a de novo CACNA1A Variant.

作者信息

Ma Kunpeng, Chen Haiyan, Chen Li, Zhao Shuainan, Zou Huafang, Zou Dongfang, Zeng Qi, Cao Dezhi, Sun Jianyuan, Li Lin, Shen Xuefeng

机构信息

Interdisciplinary Center for Brain Informationthe Brain Cognition and Brain Disease Institute, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China.

University of Chinese Academy of Sciences, Beijing, 100049, China.

出版信息

Neurosci Bull. 2025 Sep 18. doi: 10.1007/s12264-025-01508-y.

DOI:10.1007/s12264-025-01508-y
PMID:40965808
Abstract
摘要

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本文引用的文献

1
STIM Proteins: The Gas and Brake of Calcium Entry in Neurons.基质相互作用分子（STIM）蛋白：神经元中钙离子内流的油门与刹车
Neurosci Bull. 2025 Feb;41(2):305-325. doi: 10.1007/s12264-024-01272-5. Epub 2024 Sep 12.
2
Clinical and genetic characterization of CACNA1A-related disease.CACNA1A 相关疾病的临床和遗传学特征。
Clin Genet. 2022 Oct;102(4):288-295. doi: 10.1111/cge.14180. Epub 2022 Jun 26.
3
Complex effects on Ca2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder.一种与严重神经发育障碍相关的 CACNA1A 变异导致钙通道门控的复杂影响。
Sci Rep. 2022 Jun 2;12(1):9186. doi: 10.1038/s41598-022-12789-y.
4
Caβ-subunit dependence of forward and reverse trafficking of Ca1.2 calcium channels.Caβ 亚基对 Ca1.2 钙通道正向和反向转运的依赖性。
Mol Brain. 2022 May 9;15(1):43. doi: 10.1186/s13041-022-00930-x.
5
Caβ surface charged residues contribute to the regulation of neuronal calcium channels.Caβ 表面带电残基有助于调节神经元钙通道。
Mol Brain. 2022 Jan 3;15(1):3. doi: 10.1186/s13041-021-00887-3.
6
Genotype-phenotype correlation of CACNA1A variants in children with epilepsy.癫痫患儿中CACNA1A基因变异的基因型-表型相关性
Dev Med Child Neurol. 2022 Jan;64(1):105-111. doi: 10.1111/dmcn.14985. Epub 2021 Jul 15.
7
Sexually Divergent Mortality and Partial Phenotypic Rescue After Gene Therapy in a Mouse Model of Dravet Syndrome.在 Dravet 综合征的小鼠模型中，通过基因治疗实现了性别的死亡率差异和部分表型挽救。
Hum Gene Ther. 2020 Mar;31(5-6):339-351. doi: 10.1089/hum.2019.225. Epub 2020 Jan 16.
8
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.新生突变的 gain-of-function 和 loss-of-function CACNA1A 突变均可导致 Lennox-Gastaut 综合征谱系中的严重发育性癫痫性脑病。
Epilepsia. 2019 Sep;60(9):1881-1894. doi: 10.1111/epi.16316. Epub 2019 Aug 29.
9
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.CACNA1A基因的错义突变是常染色体显性非进行性先天性共济失调的常见病因。
Eur J Paediatr Neurol. 2017 May;21(3):450-456. doi: 10.1016/j.ejpn.2016.11.005. Epub 2016 Nov 30.
10
Neurotransmitter release: the last millisecond in the life of a synaptic vesicle.神经递质释放：突触囊泡生命的最后一刹那。
Neuron. 2013 Oct 30;80(3):675-90. doi: 10.1016/j.neuron.2013.10.022.