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

Antisense Dipeptide Repeat Proteins Drive Widescale Purine Metabolism Aberration in C9orf72 Amyotrophic Lateral Sclerosis via ADA

反义二肽重复蛋白通过ADA驱动C9orf72肌萎缩侧索硬化症中广泛的嘌呤代谢异常。

Benjamin Hall,Lydia Castelli,Adrian Higginbottom,Jingxuan He,Ling-Nan Zou,Heather Walker,Miriam Yagüe-Capilla,Kari E Wong,David J Burrows,Jonathan George,Keaton Hamer,Jenny M Tanner,Ergita Kyrgiou-Balli,Rees Ross,Herbie Garland,Erin Tonkiss,Rachel George,Christopher P Webster,Emma F Smith,Hannah O Timmons,Jess Allsop,Nikolas Stefanidis,Billie D Ward,Ya-Hui Lin,J Robin Highley,Mimoun Azzouz,Ryan J H West,Sean G Rudd,Kurt J De Vos,Pamela J Shaw,Guillaume M Hautbergue,Scott P Allen

Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47

遗传性痉挛性截瘫47型AP4B1基因替代疗法的临床前开发

Jessica P Wiseman, Joseph M Scarrott, João Alves-Cruzeiro, Afshin Saffari, Cedric Böger, Evangelia Karyka, Emily Dawes, Alexandra K Davies, Paolo M Marchi, Emily Graves, Fiona Fernandes, Zih-Liang Yang, Ian Coldicott, Jennifer Hirst, Christopher P Webster, J Robin Highley, Neil Hackett, Adrienn Angy

Ap4b1-knockout mouse model of hereditary spastic paraplegia type 47 displays motor dysfunction, aberrant brain morphology and ATG9A mislocalization

遗传性痉挛性截瘫 47 型 Ap4b1 基因敲除小鼠模型表现出运动功能障碍、脑形态异常和 ATG9A 错误定位

Joseph M Scarrott, João Alves-Cruzeiro, Paolo M Marchi, Christopher P Webster, Zih-Liang Yang, Evangelia Karyka, Raffaele Marroccella, Ian Coldicott, Hannah Thomas, Mimoun Azzouz

An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD

突触蛋白与 C9orf72 之间的相互作用可调节兴奋性突触,并且在 ALS/FTD 中受损

Claudia S Bauer #, Rebecca N Cohen #, Francesca Sironi #, Matthew R Livesey, Thomas H Gillingwater, J Robin Highley, Daniel J Fillingham, Ian Coldicott, Emma F Smith, Yolanda B Gibson, Christopher P Webster, Andrew J Grierson, Caterina Bendotti, Kurt J De Vos

Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation

TMEM106B 的缺失会破坏自噬体成熟,从而加剧 C9ALS/FTD DPR 病理

Claudia S Bauer, Christopher P Webster, Allan C Shaw, Jannigje R Kok, Lydia M Castelli, Ya-Hui Lin, Emma F Smith, Francisco Illanes-Álvarez, Adrian Higginbottom, Pamela J Shaw, Mimoun Azzouz, Laura Ferraiuolo, Guillaume M Hautbergue, Andrew J Grierson, Kurt J De Vos

C9ORF72-derived poly-GA DPRs undergo endocytic uptake in iAstrocytes and spread to motor neurons

C9ORF72 衍生的 poly-GA DPR 在星形胶质细胞中进行内吞吸收,并扩散至运动神经元

Paolo M Marchi, Lara Marrone, Laurent Brasseur, Audrey Coens, Christopher P Webster, Luc Bousset, Marco Destro, Emma F Smith, Christa G Walther, Victor Alfred, Raffaele Marroccella, Emily J Graves, Darren Robinson, Allan C Shaw, Lai Mei Wan, Andrew J Grierson, Stephen J Ebbens, Kurt J De Vos, Guilla

SMN-deficient cells exhibit increased ribosomal DNA damage

SMN 缺陷细胞核糖体 DNA 损伤增加

Evangelia Karyka, Nelly Berrueta Ramirez, Christopher P Webster, Paolo M Marchi, Emily J Graves, Vinay K Godena, Lara Marrone, Anushka Bhargava, Swagat Ray, Ke Ning, Hannah Crane, Guillaume M Hautbergue, Sherif F El-Khamisy, Mimoun Azzouz

SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction

SPG15 蛋白缺陷是溶酶体异常、脂质代谢改变和突触功能障碍的交汇点

Lara Marrone, Paolo M Marchi, Christopher P Webster, Raffaele Marroccella, Ian Coldicott, Steven Reynolds, João Alves-Cruzeiro, Zih-Liang Yang, Adrian Higginbottom, Mukhran Khundadze, Pamela J Shaw, Christian A Hübner, Matthew R Livesey, Mimoun Azzouz

Astrocyte adenosine deaminase loss increases motor neuron toxicity in amyotrophic lateral sclerosis

星形胶质细胞腺苷脱氨酶损失增加肌萎缩侧索硬化症中的运动神经元毒性

Scott P Allen, Benjamin Hall, Lydia M Castelli, Laura Francis, Ryan Woof, Alexandros P Siskos, Eirini Kouloura, Elizabeth Gray, Alexander G Thompson, Kevin Talbot, Adrian Higginbottom, Monika Myszczynska, Chloe F Allen, Matthew J Stopford, Jordan Hemingway, Claudia S Bauer, Christopher P Webster, Ku

The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

C9orf72 蛋白与 Rab1a 和 ULK1 复合物相互作用,调节自噬的启动

Christopher P Webster, Emma F Smith, Claudia S Bauer, Annekathrin Moller, Guillaume M Hautbergue, Laura Ferraiuolo, Monika A Myszczynska, Adrian Higginbottom, Matthew J Walsh, Alexander J Whitworth, Brian K Kaspar, Kathrin Meyer, Pamela J Shaw, Andrew J Grierson, Kurt J De Vos