Elpeleg相关文献与解析，生知库 | 链接生命科学的每一步

Katz, Ben; Zaguri, Rachel; Edvardson, Simon; Maayan, Channa; Elpeleg, Orly; Lev, Shaya; Davidson, Elyad; Peters, Maximilian; Kfir-Erenfeld, Shlomit; Berger, Esther; Ghazalin, Shifa; Binshtok, Alexander M; Minke, Baruch

TRPV1

发表日期：2026

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Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome

WSB2基因中编码E3泛素连接酶底物受体的隐性变异是神经发育综合征的病因。

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/s41431-025-01863-4

Luo, Shiyu; Gailus-Durner, Valérie; McGivern, Bobbi; Li, Qifei; Kottmeier, Jessica; Ho, Mai-Lan; Mor-Shaked, Hagar; Elpeleg, Orly; Aref-Eshghi, Erfan; Brodeur, Amanda C; Schmitz-Abe, Klaus; Genetti, Casie A; Picker, Jonathan; Shi, Jiahai; Bux, Reem Ibrahim; Ben-Omran, Tawfeg; Fuchs, Helmut; Harel, Tamar; de Angelis, Martin Hrabě; Agrawal, Pankaj B

A pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncation.

AMOT 的一种致病变异体由于 N 端截断而导致孤立性 X 连锁先天性脑积水

期刊:Journal of Clinical Investigation

影响因子:13.6

doi:10.1172/JCI179438

Hastar Nurcan, Daum Hagit, Kardos-TÃ¶rÃ¶k Nikoletta, Ganz Gael, Obendorf Leon, Vajkoczy Peter, Elpeleg Orly, Knaus Petra

其它

发表日期：2025

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A pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncation

AMOT 的一种致病变异体由于 N 端截断而导致孤立性 X 连锁先天性脑积水。

期刊:

影响因子:13.3

doi:PMC12404752

Nurcan Hastar，Hagit Daum，Nikoletta Kardos-Török，Gael Ganz，Leon Obendorf，Peter Vajkoczy，Orly Elpeleg，Petra Knaus

AMOT

发表日期：2025

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Mutations in the kinesin KIF12 promote MASH in humans and mice by disrupting lipogenic enzyme turnover

驱动蛋白KIF12的突变通过破坏脂肪生成酶的周转，促进人类和小鼠的MASH发生。

期刊:EMBO Journal

影响因子:9.4

doi:10.1038/s44318-025-00366-8

Asieh Etemad,Yosuke Tanaka,Shuo Wang,Mordechai Slae,Mutaz Sultan,Orly Elpeleg,Nobutaka Hirokawa

GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses

与智力障碍和痉挛性截瘫相关的GRID1/GluD1纯合变异会损害mGlu1/5受体信号传导和兴奋性突触。

期刊:Molecular Psychiatry

影响因子:10.1

doi:10.1038/s41380-024-02469-w

Ung, Dévina C; Pietrancosta, Nicolas; Badillo, Elena Baz; Raux, Brigitt; Tapken, Daniel; Zlatanovic, Andjela; Doridant, Adrien; Pode-Shakked, Ben; Raas-Rothschild, Annick; Elpeleg, Orly; Abu-Libdeh, Bassam; Hamed, Nasrin; Papon, Marie-Amélie; Marouillat, Sylviane; Thépault, Rose-Anne; Stevanin, Giovanni; Elegheert, Jonathan; Letellier, Mathieu; Hollmann, Michael; Lambolez, Bertrand; Tricoire, Ludovic; Toutain, Annick; Hepp, Régine; Laumonnier, Frédéric

Nociception and pain in humans lacking a functional TRPV1 channel

缺乏功能性 TRPV1 通道的人类的伤害感受和疼痛

期刊:Journal of Clinical Investigation

影响因子:13.3

doi:10.1172/JCI153558

Ben Katz, Rachel Zaguri, Simon Edvardson, Channa Maayan, Orly Elpeleg, Shaya Lev, Elyad Davidson, Maximilian Peters, Shlomit Kfir-Erenfeld, Esther Berger, Shifa Ghazalin, Alexander M Binshtok, Baruch Minke

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

编码剪接体蛋白的WBP4基因的双等位基因功能缺失变异会导致不同的神经发育综合征。

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2023.10.013

Engal, Eden; Oja, Kaisa Teele; Maroofian, Reza; Geminder, Ophir; Le, Thuy-Linh; Marzin, Pauline; Guimier, Anne; Mor, Evyatar; Zvi, Naama; Elefant, Naama; Zaki, Maha S; Gleeson, Joseph G; Muru, Kai; Pajusalu, Sander; Wojcik, Monica H; Pachat, Divya; Elmaksoud, Marwa Abd; Chan Jeong, Won; Lee, Hane; Bauer, Peter; Zifarelli, Giovanni; Houlden, Henry; Daana, Muhannad; Elpeleg, Orly; Amiel, Jeanne; Lyonnet, Stanislas; Gordon, Christopher T; Harel, Tamar; Õunap, Katrin; Salton, Maayan; Mor-Shaked, Hagar

Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK

LCK 新型无义突变导致的联合免疫缺陷

期刊:Journal of Clinical Immunology

影响因子:7.2

doi:10.1007/s10875-023-01614-4

Baerbel Keller, Shlomit Kfir-Erenfeld, Paul Matusewicz, Frederike Hartl, Atar Lev, Yu Nee Lee, Amos J Simon, Tali Stauber, Orly Elpeleg, Raz Somech #, Polina Stepensky #, Susana Minguet #, Burkhart Schraven #, Klaus Warnatz #

免疫

发表日期：2023

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Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

WBP4基因（编码剪接体蛋白）的双等位基因功能缺失变异会导致不同程度的神经发育迟缓综合征。

期刊:

影响因子:

doi:10.1101/2023.06.19.23291425

Engal, Eden; Oja, Kaisa Teele; Maroofian, Reza; Geminder, Ophir; Le, Thuy-Linh; Mor, Evyatar; Tzvi, Naama; Elefant, Naama; Zaki, Maha S; Gleeson, Joseph G; Muru, Kai; Pajusalu, Sander; Wojcik, Monica H; Pachat, Divya; Elmaksoud, Marwa Abd; Jeong, Won Chan; Lee, Hane; Bauer, Peter; Zifarelli, Giovanni; Houlden, Henry; Elpeleg, Orly; Gordon, Chris; Harel, Tamar; Õunap, Katrin; Salton, Maayan; Mor-Shaked, Hagar

Addendum to Nociception and pain in humans lacking a functional TRPV1 channel

关于缺乏功能性 TRPV1 通道的人类的伤害感受和疼痛的附录

Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome

WSB2基因中编码E3泛素连接酶底物受体的隐性变异是神经发育综合征的病因。

A pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncation.

AMOT 的一种致病变异体由于 N 端截断而导致孤立性 X 连锁先天性脑积水

A pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncation

AMOT 的一种致病变异体由于 N 端截断而导致孤立性 X 连锁先天性脑积水。

Mutations in the kinesin KIF12 promote MASH in humans and mice by disrupting lipogenic enzyme turnover

驱动蛋白KIF12的突变通过破坏脂肪生成酶的周转，促进人类和小鼠的MASH发生。

GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses

与智力障碍和痉挛性截瘫相关的GRID1/GluD1纯合变异会损害mGlu1/5受体信号传导和兴奋性突触。

Nociception and pain in humans lacking a functional TRPV1 channel

缺乏功能性 TRPV1 通道的人类的伤害感受和疼痛

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

编码剪接体蛋白的WBP4基因的双等位基因功能缺失变异会导致不同的神经发育综合征。

Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK

LCK 新型无义突变导致的联合免疫缺陷

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

WBP4基因（编码剪接体蛋白）的双等位基因功能缺失变异会导致不同程度的神经发育迟缓综合征。