El Ghaleb相关文献与解析，生知库 | 链接生命科学的每一步

Doueihy, Nour El; Ghaleb, Joya; Kfoury, Karl; Khouzami, Katy Kaleen; Nassif, Nicolas; Attieh, Philippe; Ghadieh, Hilda E; Azar, Sami; Kanaan, Amjad; Harb, Frederic

Human

肿瘤

肿瘤免疫

发表日期：2025

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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

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

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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Calcium current modulation by the γ1 subunit depends on alternative splicing of CaV1.1

γ1亚基对钙电流的调节依赖于CaV1.1的可变剪接

期刊:Journal of General Physiology

影响因子:3.3

doi:10.1085/jgp.202113028

Yousra El Ghaleb, Nadine J Ortner, Wilfried Posch, Monica L Fernández-Quintero, Wietske E Tuinte, Stefania Monteleone, Henning J Draheim, Klaus R Liedl, Doris Wilflingseder, Jörg Striessnig, Petronel Tuluc, Bernhard E Flucher, Marta Campiglio

信号转导

发表日期：2022

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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。

期刊:Brain

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

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

期刊:Elife

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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Ion-pair interactions between voltage-sensing domain IV and pore domain I regulate Ca(V)1.1 gating

电压敏感结构域IV和孔道结构域I之间的离子对相互作用调节Ca(V)1.1的门控。

期刊:Biophysical Journal

影响因子:3.1

doi:10.1016/j.bpj.2021.09.004

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

发表日期：2021

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Correcting the R165K substitution in the first voltage-sensor of Ca(V)1.1 right-shifts the voltage-dependence of skeletal muscle calcium channel activation

纠正Ca(V)1.1第一个电压传感器中的R165K突变，可使骨骼肌钙通道激活的电压依赖性曲线右移。

期刊:Channels

影响因子:3.2

doi:10.1080/19336950.2019.1568825

El Ghaleb, Yousra; Campiglio, Marta; Flucher, Bernhard E

发表日期：2019

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Aspartame and Human Health: A Mini-Review of Carcinogenic and Systemic Effects

阿斯巴甜与人类健康：致癌性和全身性影响简述

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。

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。

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。

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。

Calcium current modulation by the γ1 subunit depends on alternative splicing of CaV1.1

γ1亚基对钙电流的调节依赖于CaV1.1的可变剪接

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。

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

Ion-pair interactions between voltage-sensing domain IV and pore domain I regulate Ca(V)1.1 gating

电压敏感结构域IV和孔道结构域I之间的离子对相互作用调节Ca(V)1.1的门控。

Correcting the R165K substitution in the first voltage-sensor of Ca(V)1.1 right-shifts the voltage-dependence of skeletal muscle calcium channel activation

纠正Ca(V)1.1第一个电压传感器中的R165K突变，可使骨骼肌钙通道激活的电压依赖性曲线右移。