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

C9orf72 poly(glycine-alanine) knock-in mice exhibit mild rotarod and proteomic changes consistent with amyotrophic lateral sclerosis/frontotemporal dementia.

C9orf72 聚(甘氨酸-丙氨酸)敲入小鼠表现出轻微的旋转杆和蛋白质组变化,与肌萎缩侧索硬化症/额颞叶痴呆症一致。

Milioto Carmelo, Carcolé Mireia, Zanovello Matteo, Ahmed Mhoriam, Nirujogi Raja S, Biggs Daniel, Roberts Martha J, Schweers Kyra, Cammack Alexander J, Marchi Paolo M, Katona Eszter, Glaria Idoia, Santos Almudena, Devoy Anny, Fratta Pietro, Alessi Dario R, Davies Ben, Greensmith Linda, Fisher Elizabeth M C, Isaacs Adrian M

TBK1 activity regulates the directionality of axonal transport of signalling endosomes.

TBK1 活性调节信号内体轴突运输的方向性。

Villarroel-Campos David, Vargas Jose Norberto S, Wallace Martin, Sun Kai, Sleigh James N, Fratta Pietro, Schiavo Giampietro

TDP-43 loss induces cryptic polyadenylation in ALS/FTD.

TDP-43 缺失导致 ALS/FTD 中出现隐蔽的多聚腺苷酸化。

Bryce-Smith Sam, Brown Anna-Leigh, Chien Max Z Y J, Dattilo Dario, Mehta Puja R, Mattedi Francesca, Barattucci Simone, Mikheenko Alla, Zanovello Matteo, Pellegrini Flaminia, El-Agamy Sara Emad, Yome Matthew, Hill Sarah E, Qi Yue A, Sun Kai, Ryadnov Eugeni, Wan Yixuan, Vargas Jose Norberto S, Birsa Nicol, Raj Towfique, Humphrey Jack, Keuss Matthew, Wilkins Oscar G, Ward Michael, Secrier Maria, Fratta Pietro

TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD.

TDP-43 依赖的 KCNQ2 错误剪接引发 ALS/FTD 中的内在神经元过度兴奋。

Joseph Brian J, Marshall Kelly A, Harley Peter, Mann Jacob R, Alessandrini Francesco, Vanoye Carlos G, Chi Wanhao, Prudencio Mercedes, Simkin Dina, Kao Tzu-Ting, Desai Reshma R, Keuss Matthew J, Barattucci Simone, Zanovello Matteo, Mehta Puja R, DeKeyser Jean-Marc, Limone Francesco, Lee Jonathan, Brown Anna-Leigh, Leyton-Jaimes Marcel F, Nash Leslie A, Juan Irune Guerra San, Aronica Eleonora, Wainger Brian J, Shah Mala, Goswami Anand, Shneider Neil A, Dickson Dennis W, Burrone Juan, Zhang Chaolin, Wichterle Hynek, Petrucelli Leonard, Watts Jonathan K, George Alfred L Jr, Fratta Pietro, Eggan Kevin, Kiskinis Evangelos

ProtPipe: A Multifunctional Data Analysis Pipeline for Proteomics and Peptidomics

ProtPipe:用于蛋白质组学和肽组学的多功能数据分析流程

Li, Ziyi; Weller, Cory A; Shah, Syed; Johnson, Nicholas L; Hao, Ying; Jarreau, Paige B; Roberts, Jessica; Guha, Deyaan; Bereda, Colleen; Klaisner, Sydney; Machado, Pedro; Zanovello, Matteo; Prudencio, Mercedes; Oskarsson, Björn; Staff, Nathan P; Dickson, Dennis W; Fratta, Pietro; Petrucelli, Leonard; Narayan, Priyanka; Cookson, Mark R; Ward, Michael E; Singleton, Andrew B; Nalls, Mike A; Qi, Yue A

Muscle MRI quantifies disease progression in amyotrophic lateral sclerosis

肌肉磁共振成像可量化肌萎缩侧索硬化症的疾病进展

Klickovic, Uros; Zampedri, Luca; Zafeiropoulos, Nick; Ziff, Oliver J; Sinclair, Christopher Dj; Wastling, Stephen; Dudziec, Magdalena; Allen, Jodie; Trimmel, Karin; Howard, Robin S; Malaspina, Andrea; Sharma, Nikhil; Sidle, Katie Cl; Shah, Sachit; Nasel, Christian; Yousry, Tarek A; Greensmith, Linda; Morrow, Jasper M; Thornton, John S; Fratta, Pietro

Integrative multiomic analysis links TDP-43-driven splicing defects to cascading proteomic disruption of ALS/FTD pathways

整合多组学分析将TDP-43驱动的剪接缺陷与ALS/FTD通路级联蛋白质组破坏联系起来

Kozareva, Velina; Liu, Zhengde; Blake, Keyana; Qi, Yue A; Rollinson, Sasha; Seddighi, Sahba; Alsaidi, Mohammad; Tsitkov, Stanislav; Prudencio, Mercedes; Petrucelli, Leonard; Dickson, Dennis W; Brown, Anna-Leigh; Fratta, Pietro; Kim, Hong Joo; Taylor, J Paul; Ward, Michael E; Fraenkel, Ernest; Kargbo-Hill, Sarah E

Sensitivity to TDP-43 loss and degradation resistance determine cryptic exon biomarker potential

对 TDP-43 丢失的敏感性和降解抵抗性决定了隐蔽外显子作为生物标志物的潜力。

Brown, Anna-Leigh; Zanovello, Matteo; Mikheenko, Alla; Dattilo, Dario; Pellegrini, Flaminia; Bryce-Smith, Sam; Mattedi, Francesca; Mehta, Puja R; Vargas, Jose Norberto S; Humphrey, Jack; Keuss, Matthew J; Fratta, Pietro

U7 small nuclear RNA splice-switching therapeutics for STMN2 and UNC13A in Amyotrophic Lateral Sclerosis.

U7 小核 RNA 剪接转换疗法用于治疗肌萎缩侧索硬化症中的 STMN2 和 UNC13A。

Mehta Puja R, Solomon Tomas, Pickles Sarah, Harley Peter, Barioglio Michela, Schweingruber Christoph, Marrero-Gagliardi Alessandro, Gao Yujing, Mattedi Francesca, Barattucci Simone, Lin Lilian Tsai-Wei, Ryadnov Eugeni, Zanovello Matteo, Cammack Alexander J, Isaacs Adrian M, Burrone Juan, Shaw Christopher E, Keuss Matthew J, Petrucelli Leonard, Fratta Pietro, Ruepp Marc-David

Lysosomal escape and TMEM106B fibrillar core determine TDP-43 seeding outcomes.

溶酶体逃逸和 TMEM106B 纤维核心决定 TDP-43 播种结果。

Zhong Weijia, Scialò Carlo, Gatta Beatrice, Häfliger Manon, Leu Noemi, Lurati Flavio, Peter Martina, Ramesh Nandini, Roschitzki Bernd, Jagannath Somanath, Manglunia Ruchi, de Cecco Elena, Lim Su Min, Wilkins Oscar G, Aguzzi Adriano, Ward Michael, Fratta Pietro, Petrucelli Leonard, Lagier-Tourenne Clotilde, Polymenidou Magdalini