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

Spatiotemporally resolved transcriptomics reveals the cellular dynamics of human retinal development

时空分辨的转录组学揭示人类视网膜发育的细胞动态

Jinglong Zhang #, Jiao Wang #, Qiongjie Zhou #, Zixin Chen, Junyi Zhuang, Xingzhong Zhao, Ziquan Gan, Yinan Wang, Chunxiu Wang, Robert S Molday, Yucheng T Yang, Xiaotian Li, Xing-Ming Zhao4

Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models.

使用双AAV内含子载体的视网膜基因疗法治疗Stargardt病在大动物模型中安全有效

Ferla Rita, Pugni Eugenio, Lupo Mariangela, Tiberi Paola, Fioretto Federica, Perota Andrea, Duchi Roberto, Lagutina Irina, Gesualdo Carlo, Rossi Settimio, Ventrella Domenico, Elmi Alberto, McClinton Benjamin, Toomes Carmel, Xu Tongzhou, Molday Robert S, Surace Enrico M, Simonelli Francesca, Bacci Maria L, Galli Cesare, Memon Muhammad A, Shams Naveed, Auricchio Alberto, Trapani Ivana

Structural and functional properties of the N- and C-terminal segments of the P4-ATPase phospholipid flippase ATP8A2

P4-ATPase磷脂翻转酶ATP8A2的N末端和C末端片段的结构和功能特性

Eli Matsell, Moloud Mazaheri, Jens Peter Andersen, Robert S Molday

Quantifying the Progression of Stargardt Disease in Double-Null ABCA4 Carriers Using Fundus Autofluorescence Imaging

利用眼底自发荧光成像技术量化ABCA4双缺失携带者Stargardt病的进展

Mihalek, Ivana; De Bruyn, Hanna; Glavan, Tomislav; Lancos, Annie M; Ciolfi, Caitlin M; Malendowicz, Katarzyna; Aslaksen, Sigrid; Molday, Laurie L; Molday, Robert S; Fulton, Anne B

Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease

针对 Stargardt 病中 ABCA4 变异 c.768G>T 的剪接调节疗法的临床前评估

Dyah W Karjosukarso, Femke Bukkems, Lonneke Duijkers, Tomasz Z Tomkiewicz, Julia Kiefmann, Andrei Sarlea, Sander Bervoets, Irene Vázquez-Domínguez, Laurie L Molday, Robert S Molday, Mihai G Netea, Carel B Hoyng, Alejandro Garanto, Rob W J Collin

Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies

ABCA4 错义变异的功能表征有助于 ABCA4 视网膜营养不良患者的变异解释和表型预测

Sigrid Aslaksen, Ingvild Aukrust, Laurie Molday, Josephine Prener Holtan, Ragnhild Wivestad Jansson, Siren Berland, Eyvind Rødahl, Cecilie Bredrup, Ragnheiður Bragadóttir, Eirik Bratland, Robert S Molday, Per Morten Knappskog

Structural and functional characterization of the nucleotide-binding domains of ABCA4 and their role in Stargardt disease

ABCA4 核苷酸结合域的结构和功能特征及其在 Stargardt 病中的作用

Jessica Fernandes Scortecci, Fabian A Garces, Jai K Mahto, Laurie L Molday, Filip Van Petegem, Robert S Molday

Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases

与人类遗传疾病相关的 ATP8A2 和其他 P4-ATPase 变体的功能和计算机分析

Eli Matsell, Jens Peter Andersen, Robert S Molday

The Surviving, Not Thriving, Photoreceptors in Patients with ABCA4 Stargardt Disease

ABCA4 Stargardt 病患者的光感受器存活但未恢复活力

De Bruyn, Hanna; Johnson, Megan; Moretti, Madelyn; Ahmed, Saleh; Mujat, Mircea; Akula, James D; Glavan, Tomislav; Mihalek, Ivana; Aslaksen, Sigrid; Molday, Laurie L; Molday, Robert S; Berkowitz, Bruce A; Fulton, Anne B

A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants

邻近互补试验可识别增强 ABCA4 错误折叠变体运输的小分子

Davide Piccolo, Christina Zarouchlioti, James Bellingham, Rosellina Guarascio, Kalliopi Ziaka, Robert S Molday, Michael E Cheetham