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

Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids

小分子治疗可缓解LCA5缺陷型人类视网膜类器官的光感受器纤毛缺陷

Athanasiou, Dimitra; Afanasyeva, Tess A V; Chai, Niuzheng; Ziaka, Kalliopi; Jovanovic, Katarina; Guarascio, Rosellina; Boldt, Karsten; Corral-Serrano, Julio C; Kanuga, Naheed; Roepman, Ronald; Collin, Rob W J; Cheetham, Michael E

Correction: Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids

更正:小分子治疗可缓解LCA5缺陷型人类视网膜类器官的光感受器纤毛缺陷

Athanasiou, Dimitra; Afanasyeva, Tess A V; Chai, Niuzheng; Ziaka, Kalliopi; Jovanovic, Katarina; Guarascio, Rosellina; Boldt, Karsten; Corral-Serrano, Julio C; Kanuga, Naheed; Roepman, Ronald; Collin, Rob W J; Cheetham, Michael E

PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation

PCARE 和 WASF3 调控纤毛 F-肌动蛋白的组装,而纤毛 F-肌动蛋白的组装是光感受器外节盘状结构形成启动所必需的。

Corral-Serrano, Julio C; Lamers, Ideke J C; van Reeuwijk, Jeroen; Duijkers, Lonneke; Hoogendoorn, Anita D M; Yildirim, Adem; Argyrou, Nikoleta; Ruigrok, Renate A A; Letteboer, Stef J F; Butcher, Rossano; van Essen, Max D; Sakami, Sanae; van Beersum, Sylvia E C; Palczewski, Krzysztof; Cheetham, Michael E; Liu, Qin; Boldt, Karsten; Wolfrum, Uwe; Ueffing, Marius; Garanto, Alejandro; Roepman, Ronald; Collin, Rob W J

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

结构变异在显性视网膜色素变性中产生新的拓扑关联域和异位视网膜增强子-基因接触

de Bruijn, Suzanne E; Fiorentino, Alessia; Ottaviani, Daniele; Fanucchi, Stephanie; Melo, Uirá S; Corral-Serrano, Julio C; Mulders, Timo; Georgiou, Michalis; Rivolta, Carlo; Pontikos, Nikolas; Arno, Gavin; Roberts, Lisa; Greenberg, Jacquie; Albert, Silvia; Gilissen, Christian; Aben, Marco; Rebello, George; Mead, Simon; Raymond, F Lucy; Corominas, Jordi; Smith, Claire E L; Kremer, Hannie; Downes, Susan; Black, Graeme C; Webster, Andrew R; Inglehearn, Chris F; van den Born, L Ingeborgh; Koenekoop, Robert K; Michaelides, Michel; Ramesar, Raj S; Hoyng, Carel B; Mundlos, Stefan; Mhlanga, Musa M; Cremers, Frans P M; Cheetham, Michael E; Roosing, Susanne; Hardcastle, Alison J

In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.

通过反义寡核苷酸递送在体外和体内挽救 CEP290 相关 LCA 中的异常剪接

Garanto Alejandro, Chung Daniel C, Duijkers Lonneke, Corral-Serrano Julio C, Messchaert Muriël, Xiao Ru, Bennett Jean, Vandenberghe Luk H, Collin Rob W J