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日期影响因子

Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity

两对对通道功能具有相反影响的 CACNA1I (CaV3.3) 变异体会导致不同程度的神经发育障碍。

期刊:PLoS Genetics

影响因子:3.7

doi:10.1371/journal.pgen.1011828

El Ghaleb, Yousra; Fernández-Quintero, Monica L; Campiglio, Marta; Tuluc, Petronel; Höing, Ann-Sophie; Kortüm, Fanny; Motazacker, Mahdi M; Jansen, Iris E; Elting, Mariet W; Plomp, Astrid S; Fischer, Anna-Lena M; Siu, Victoria M; Kutsche, Kerstin; Flucher, Bernhard E

发育与干细胞

发表日期：2025

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Divergent actions of Ca(V)1.1 voltage-sensing domain III in activating EC coupling and channel gating

Ca(V)1.1电压感应结构域III在激活兴奋-收缩耦联和通道门控中的不同作用

期刊:Biophysical Journal

影响因子:3.1

doi:10.1016/j.bpj.2025.10.011

Pelizzari, Simone; Campiglio, Marta; Fernández-Quintero, Monica L; Heiss, Martin C; Tuluc, Petronel; Flucher, Bernhard E

发表日期：2025

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Voltage-sensor gating charge interactions bimodally regulate voltage dependence and kinetics of calcium channel activation

电压传感器门控电荷相互作用以双峰方式调节钙通道激活的电压依赖性和动力学。

期刊:Journal of General Physiology

影响因子:2.9

doi:10.1085/jgp.202513769

Heiss, Martin C; Fernández-Quintero, Monica L; Campiglio, Marta; El Ghaleb, Yousra; Pelizzari, Simone; Loeffler, Johannes R; Liedl, Klaus R; Tuluc, Petronel; Flucher, Bernhard E

发表日期：2025

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Prolonged apnea in a boy with epilepsy and a novel gain-of-function missense CACNA1A variant indicating SUDEP risk

一名患有癫痫的男孩出现长时间呼吸暂停，并携带一种新的获得性功能错义CACNA1A变异，提示存在癫痫猝死风险。

期刊:Frontiers in Neurology

影响因子:2.8

doi:10.3389/fneur.2025.1582548

Pelizzari, Simone; Campiglio, Marta; El Ghaleb, Yousra; Bierhals, Tatjana; Hempel, Maja; Denecke, Jonas; Flucher, Bernhard E; Johannsen, Jessika

发表日期：2025

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Ca(V)1.1 voltage-sensing domain III exclusively controls skeletal muscle excitation-contraction coupling

Ca(V)1.1电压感应结构域III专门控制骨骼肌的兴奋-收缩耦联。

期刊:Nature Communications

影响因子:15.7

doi:10.1038/s41467-024-51809-5

Pelizzari, Simone; Heiss, Martin C; Fernández-Quintero, Monica L; El Ghaleb, Yousra; Liedl, Klaus R; Tuluc, Petronel; Campiglio, Marta; Flucher, Bernhard E

发表日期：2024

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Spatial transcriptomics in embryonic mouse diaphragm muscle reveals regional gradients and subdomains of developmental gene expression

小鼠胚胎膈肌的空间转录组学分析揭示了发育基因表达的区域梯度和亚结构域

期刊:iScience

影响因子:4.1

doi:10.1016/j.isci.2024.110018

Kaplan, Mehmet Mahsum; Zeidler, Maximilian; Knapp, Annabella; Hölzl, Martina; Kress, Michaela; Fritsch, Helga; Krogsdam, Anne; Flucher, Bernhard E

发育与干细胞

发表日期：2024

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Asymmetric contribution of a selectivity filter gate in triggering inactivation of CaV1.3 channels

选择性过滤门在触发 CaV1.3 通道失活中的不对称作用

期刊:Journal of General Physiology

影响因子:2.9

doi:10.1085/jgp.202313365

Del Rivero Morfin, Pedro J; Kochiss, Audrey L; Liedl, Klaus R; Flucher, Bernhard E; Fernández-Quintero, Monica L I; Ben-Johny, Manu

发表日期：2024

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Asymmetric Contribution of a Selectivity Filter Gate in Triggering Inactivation of Ca(V)1.3 Channels

选择性过滤门在触发Ca(V)1.3通道失活中的不对称贡献

doi:10.1101/2023.09.21.558864

Del Rivero Morfin, Pedro J; Kochiss, Audrey L; Liedl, Klaus R; Flucher, Bernhard E; Fernández-Quintero, Monica L I; Ben-Johny, Manu

发表日期：2023

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CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

CACNA1I 功能获得性突变对通道门控的影响各不相同，并导致神经发育障碍。

影响因子:11.7

doi:10.1093/brain/awab101

El Ghaleb, Yousra; Schneeberger, Pauline E; Fernández-Quintero, Monica L; Geisler, Stefanie M; Pelizzari, Simone; Polstra, Abeltje M; van Hagen, Johanna M; Denecke, Jonas; Campiglio, Marta; Liedl, Klaus R; Stevens, Cathy A; Person, Richard E; Rentas, Stefan; Marsh, Eric D; Conlin, Laura K; Tuluc, Petronel; Kutsche, Kerstin; Flucher, Bernhard E

发育与干细胞

发表日期：2021

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Structural determinants of voltage-gating properties in calcium channels

钙通道电压门控特性的结构决定因素

影响因子:6.4

doi:10.7554/eLife.64087

Fernández-Quintero, Monica L; El Ghaleb, Yousra; Tuluc, Petronel; Campiglio, Marta; Liedl, Klaus R; Flucher, Bernhard E

发表日期：2021

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