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

Evaluation of in vitro liver models and non-human primates for predicting ADAR RNA editing efficiency in human liver.

评估体外肝脏模型和非人灵长类动物对预测 ADAR RNA 编辑在人类肝脏中效率的影响。

Aguila Monica, Cnubben Nicole H P, Parfitt David A, Albuquerque Bruno, de Visser Peter C, Molendijk Marlieke, Marques Lemelinda, van Berkel Maaike, Platenburg Gerard J

DNAJ Proteins in neurodegeneration: essential and protective factors

DNAJ蛋白在神经退行性疾病中的作用:必需因子和保护因子

Zarouchlioti, Christina; Parfitt, David A; Li, Wenwen; Gittings, Lauren M; Cheetham, Michael E

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

Arl3 和 RP2 调控纤毛尖端驱动蛋白的运输

Schwarz, Nele; Lane, Amelia; Jovanovic, Katarina; Parfitt, David A; Aguila, Monica; Thompson, Clare L; da Cruz, Lyndon; Coffey, Peter J; Chapple, J Paul; Hardcastle, Alison J; Cheetham, Michael E

Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain

蛋白激酶CK2通过磷酸化UIM2结构域来调节HSJ1的功能。

Ottaviani, Daniele; Marin, Oriano; Arrigoni, Giorgio; Franchin, Cinzia; Vilardell, Jordi; Sandre, Michele; Li, Wenwen; Parfitt, David A; Pinna, Lorenzo A; Cheetham, Michael E; Ruzzene, Maria

Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies

利用诱导多能干细胞了解视网膜纤毛病的发病机制并开发治疗方法

Parfitt, David A; Lane, Amelia; Ramsden, Conor; Jovanovic, Katarina; Coffey, Peter J; Hardcastle, Alison J; Cheetham, Michael E

Targeting the Proteostasis Network in Rhodopsin Retinitis Pigmentosa

靶向视紫红质视网膜色素变性的蛋白质稳态网络

Parfitt, David A; Cheetham, Michael E

The cell stress machinery and retinal degeneration

细胞应激机制与视网膜退化

Athanasiou, Dimitra; Aguilà, Monica; Bevilacqua, Dalila; Novoselov, Sergey S; Parfitt, David A; Cheetham, Michael E

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

夏洛瓦-萨格奈常染色体隐性痉挛性共济失调(ARSACS)中的线粒体功能障碍和浦肯野细胞丢失

Girard, Martine; Larivière, Roxanne; Parfitt, David A; Deane, Emily C; Gaudet, Rebecca; Nossova, Nadya; Blondeau, Francois; Prenosil, George; Vermeulen, Esmeralda G M; Duchen, Michael R; Richter, Andrea; Shoubridge, Eric A; Gehring, Kalle; McKinney, R Anne; Brais, Bernard; Chapple, J Paul; McPherson, Peter S

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

通过靶向基因组下一代测序发现 OFD1 基因的深内含子突变会导致严重的 X 连锁视网膜色素变性 (RP23)。

Webb, Tom R; Parfitt, David A; Gardner, Jessica C; Martinez, Ariadna; Bevilacqua, Dalila; Davidson, Alice E; Zito, Ilaria; Thiselton, Dawn L; Ressa, Jacob H C; Apergi, Marina; Schwarz, Nele; Kanuga, Naheed; Michaelides, Michel; Cheetham, Michael E; Gorin, Michael B; Hardcastle, Alison J

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

共济失调蛋白sacsin是一种功能性辅助伴侣蛋白,可保护细胞免受聚谷氨酰胺扩展的共济失调蛋白-1的损伤。

Parfitt, David A; Michael, Gregory J; Vermeulen, Esmeralda G M; Prodromou, Natalia V; Webb, Tom R; Gallo, Jean-Marc; Cheetham, Michael E; Nicoll, William S; Blatch, Gregory L; Chapple, J Paul