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

AAV2 vector optimization for retinal ganglion cell-targeted delivery of therapeutic genes

AAV2 载体优化用于视网膜神经节细胞靶向递送治疗基因

Brahim Chaqour, Thu T Duong, Jipeng Yue, Tehui Liu, David Camacho, Kimberly E Dine, Julian Esteve-Rudd, Scott Ellis, Jean Bennett, Kenneth S Shindler, Ahmara G Ross

Key Role for CRB2 in the Maintenance of Apicobasal Polarity in Retinal Pigment Epithelial Cells

CRB2 在维持视网膜色素上皮细胞顶端基底极性中的关键作用

Antonio E Paniagua, Alicia Segurado, Jorge F Dolón, Julián Esteve-Rudd, Almudena Velasco, David S Williams, Concepción Lillo

Live-Cell Imaging of Phagosome Motility in Primary Mouse RPE Cells

利用活细胞成像技术观察小鼠原代视网膜色素上皮细胞中吞噬体的运动

Hazim, Roni; Jiang, Mei; Esteve-Rudd, Julian; Diemer, Tanja; Lopes, Vanda S; Williams, David S

Microtubule motors transport phagosomes in the RPE, and lack of KLC1 leads to AMD-like pathogenesis.

微管马达在视网膜色素上皮 (RPE) 中运输吞噬体,KLC1 的缺乏会导致类似 AMD 的发病机制

Jiang Mei, Esteve-Rudd Julian, Lopes Vanda S, Diemer Tanja, Lillo Concepción, Rump Agrani, Williams David S

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

Spata7 是一种视网膜纤毛病基因,对视网膜中 RPGRIP1 的正确定位和蛋白质运输至关重要

Aiden Eblimit, Thanh-Minh T Nguyen, Yiyun Chen, Julian Esteve-Rudd, Hua Zhong, Stef Letteboer, Jeroen Van Reeuwijk, David L Simons, Qian Ding, Ka Man Wu, Yumei Li, Sylvia Van Beersum, Yalda Moayedi, Huidan Xu, Patrick Pickard, Keqing Wang, Lin Gan, Samuel M Wu, David S Williams, Graeme Mardon, Ronal

Mutations in EMP2 cause childhood-onset nephrotic syndrome

EMP2基因突变会导致儿童期发病的肾病综合征

Gee, Heon Yung; Ashraf, Shazia; Wan, Xiaoyang; Vega-Warner, Virginia; Esteve-Rudd, Julian; Lovric, Svjetlana; Fang, Humphrey; Hurd, Toby W; Sadowski, Carolin E; Allen, Susan J; Otto, Edgar A; Korkmaz, Emine; Washburn, Joseph; Levy, Shawn; Williams, David S; Bakkaloglu, Sevcan A; Zolotnitskaya, Anna; Ozaltin, Fatih; Zhou, Weibin; Hildebrandt, Friedhelm

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

ADCK4 突变通过干扰 CoQ10 生物合成促进类固醇耐药性肾病综合征

Shazia Ashraf, Heon Yung Gee, Stephanie Woerner, Letian X Xie, Virginia Vega-Warner, Svjetlana Lovric, Humphrey Fang, Xuewen Song, Daniel C Cattran, Carmen Avila-Casado, Andrew D Paterson, Patrick Nitschké, Christine Bole-Feysot, Pierre Cochat, Julian Esteve-Rudd, Birgit Haberberger, Susan J Allen, 

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

ZMYND10 在原发性纤毛运动障碍中发生突变并与 LRRC6 相互作用

Maimoona A Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, Dalal A Al-Mutairi, Margaret W Leigh, Toby W Hurd, Rim Hjeij, Sharon D Dell, Moumita Chaki, Gerard W Dougherty, Mohamed Adan, Philip C Spear, Julian Esteve-Rudd, Niki T Loges, Margaret Rosenfeld, Katrina A Diaz, Heike Olbrich, Whitney E Wolf,

Alterations in energy metabolism, neuroprotection and visual signal transduction in the retina of Parkinsonian, MPTP-treated monkeys

帕金森病MPTP处理猴视网膜能量代谢、神经保护和视觉信号转导的改变

Campello, Laura; Esteve-Rudd, Julián; Bru-Martínez, Roque; Herrero, María Trinidad; Fernández-Villalba, Emiliano; Cuenca, Nicolás; Martín-Nieto, José