日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The sterol-regulating human ARV1 binds cholesterol and phospholipids through its conserved ARV1 homology domain

调节甾醇的人类ARV1通过其保守的ARV1同源结构域结合胆固醇和磷脂。

Jessie Lee Cunningham ,Hsing-Yin Liu ,Jamie Francisco ,Karla K Frietze ,J Jose Corbalan ,Joseph T Nickels Jr

When Genes Misfire: ARV1 and the Unseen Battle Against Pediatric Epileptic Encephalopathy

基因失控:ARV1 与儿童癫痫性脑病的隐形战斗

Hammad Seroor Jadah, Raafat; Al Aghawani, Jood A

Identification of ARV1 Gene Mutations in Three Pediatric Cases of Developmental and Epileptic Encephalopathy

在三例儿童发育性和癫痫性脑病中鉴定出ARV1基因突变

Buhusayen, Feras A Majeed; Alashraaf, Mohamed; Jadah, Raafat Hamad Seroor H

Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report

扩张型心肌病是ARV1相关表型的一部分:病例报告

Karabinos, Anton; Hyblova, Michaela; Eckertova, Miroslava; Tomkova, Erika; Schwartzova, Drahomira; Luckanicova, Nikoleta; Magyarova, Gabriela; Minarik, Gabriel

Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy

ARV1相关脑病中的游走性局灶性癫痫发作和肌阵挛状态

Darra, Francesca; Lo Barco, Tommaso; Opri, Roberta; Parrini, Elena; Bianchini, Claudia; Fiorini, Elena; Simonati, Alessandro; Dalla Bernardina, Bernardo; Cantalupo, Gaetano; Guerrini, Renzo

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency

人类 ARV1 中的纯合剪接变体导致 GPI 锚合成缺陷

Mariska Davids, Minal Menezes, Yiran Guo, Scott D McLean, Hakon Hakonarson, Felicity Collins, Lisa Worgan, Charles J Billington Jr, Irina Maric, Rebecca Okashah Littlejohn, Tito Onyekweli, Members Of The Udn, David R Adams, Cynthia J Tifft, William A Gahl, Lynne A Wolfe, John Christodoulou, May Chri

Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy

ARV1神经元缺陷会导致常染色体隐性遗传性癫痫性脑病。

Palmer, Elizabeth E; Jarrett, Kelsey E; Sachdev, Rani K; Al Zahrani, Fatema; Hashem, Mais Omar; Ibrahim, Niema; Sampaio, Hugo; Kandula, Tejaswi; Macintosh, Rebecca; Gupta, Rajat; Conlon, Donna M; Billheimer, Jeffrey T; Rader, Daniel J; Funato, Kouichi; Walkey, Christopher J; Lee, Chang Seok; Loo, Christine; Brammah, Susan; Elakis, George; Zhu, Ying; Buckley, Michael; Kirk, Edwin P; Bye, Ann; Alkuraya, Fowzan S; Roscioli, Tony; Lagor, William R

Yeast ARV1 is required for efficient delivery of an early GPI intermediate to the first mannosyltransferase during GPI assembly and controls lipid flow from the endoplasmic reticulum

酵母ARV1对于在GPI组装过程中将早期GPI中间体高效递送至第一个甘露糖基转移酶是必需的,并控制着脂质从内质网的流动。

Kajiwara, Kentaro; Watanabe, Reika; Pichler, Harald; Ihara, Kensuke; Murakami, Suguru; Riezman, Howard; Funato, Kouichi