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

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

Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits

对来自神经系统疾病患者的 12,496 个外显子组中短串联重复序列扩增的分析表明,基因分型率因外显子组捕获试剂盒的不同而存在差异。

Rocca, Clarissa; Murphy, David; Clarkson, Chris; Zanovello, Matteo; Gagliardi, Delia; Genomics, Queen Square; Kaiyrzhanov, Rauan; Alvi, Javeria; Maroofian, Reza; Efthymiou, Stephanie; Sultan, Tipu; Vandrovcova, Jana; Polke, James; Labrum, Robyn; Houlden, Henry; Tucci, Arianna

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

TDP-43 pathology induces CD8(+) T cell activation through cryptic epitope recognition.

TDP-43 病理通过隐蔽表位识别诱导 CD8(+) T 细胞活化

Chizari Shahab, Zanovello Matteo, Kong Steven, Saigal Vidur, Brown Anna-Leigh, Turchetti Valentina, Zampedri Luca, Skorupinska Iwona, Minicuci Giacomo Maria, Paron Francesca, Tonin Paola, Marchetto Giulia, Li Ziyi, Colón-Mercado Jennifer M, Dattilo Dario, Barattucci Simone, Gatt Ariana, Qi Andy, Hanna Michael, Ward Michael, Petrucelli Leonard, Romano Maurizio, Vattemi Gaetano, Buratti Emanuele, Malapsina Andrea, Merve Ashirwad, Machado Pedro M, Soraru Gianni, Fratta Pietro, Jiang Ning

Author Correction: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

作者更正:TDP-43 缺失和 ALS 风险 SNP 导致 UNC13A 的错误剪接和耗竭

Brown, Anna-Leigh; Wilkins, Oscar G; Keuss, Matthew J; Kargbo-Hill, Sarah E; Zanovello, Matteo; Lee, Weaverly Colleen; Bampton, Alexander; Lee, Flora C Y; Masino, Laura; Qi, Yue A; Bryce-Smith, Sam; Gatt, Ariana; Hallegger, Martina; Fagegaltier, Delphine; Phatnani, Hemali; Newcombe, Jia; Gustavsson, Emil K; Seddighi, Sahba; Reyes, Joel F; Coon, Steven L; Ramos, Daniel; Schiavo, Giampietro; Fisher, Elizabeth M C; Raj, Towfique; Secrier, Maria; Lashley, Tammaryn; Ule, Jernej; Buratti, Emanuele; Humphrey, Jack; Ward, Michael E; Fratta, Pietro

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

致病性AR CAG重复序列扩增在普通人群中出现频率出乎意料地高

Zanovello, Matteo; Ibáñez, Kristina; Brown, Anna-Leigh; Sivakumar, Prasanth; Bombaci, Alessandro; Santos, Liana; van Vugt, Joke J F A; Narzisi, Giuseppe; Karra, Ramita; Scholz, Sonja W; Ding, Jinhui; Gibbs, J Raphael; Chiò, Adriano; Dalgard, Clifton; Weisburd, Ben; Hanna, Michael G; Greensmith, Linda; Phatnani, Hemali; Veldink, Jan H; Traynor, Bryan J; Polke, James; Houlden, Henry; Fratta, Pietro; Tucci, Arianna