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

Blocking RAN translation without altering repeat RNAs rescues C9ORF72-related ALS and FTD phenotypes

阻断 RAN 翻译而不改变重复 RNA 可挽救 C9ORF72 相关 ALS 和 FTD 表型

Jiang, Xin; Schaeffer, Laure; Patni, Divya; Russo, Tommaso; Lee, Chao-Zong; Aguilar, Corey; Marques, Christine; Jansen-West, Karen; Hruska-Plochan, Marian; Ray-Soni, Ananya; Lim, Su Min; Held, Aaron; Yue, Mei; Castellanos Otero, Paula; Aryal, Sandeep; Beaussant, Hortense D A M; Basu, Himanish; Takakuwa, Hiro; Daughrity, Lillian M; Ramesh, Nandini; Da Costa, Paulo; A A Quadros, Ana Rita; Nolan, Matthew; Reyes, Charles Jourdan F; Wheeler, Hayden; Moran, Laura C; Griesman, Grant; Wymann, Benjamin; Trombetta, Bianca A; Lopez-De-Silanes, Emma Sofia; Canori, Michael; Krishnan, Gopinath; Vieira Souza Da Silva, Yasmim; Eriani, Gilbert; Albers, Mark W; Arnold, Steven E; Song, Yuyu; Jain, Ankur; Chiu, Isaac M; Zhang, Yong-Jie; Gao, Fen-Biao; Wainger, Brian J; Polymenidou, Magdalini; Petrucelli, Leonard; Martin, Franck; Lagier-Tourenne, Clotilde

TDP-43-mediated alternative polyadenylation is associated with a reduction in VPS35 and VPS29 expression in frontotemporal dementia

TDP-43介导的替代性多聚腺苷酸化与额颞叶痴呆中VPS35和VPS29表达的降低有关

Maheswari Jawahar, Vidhya; Zeng, Yi; Armour, Ellen M; Yue, Mei; Citrano, Kathryn; Lovchykova, Anastasiia; Reeves, Madison M; Rawlinson, Bailey; DeTure, Michael; Dunmore, Judith A; Song, Yuping; Ball, Sophie K; Wszolek, Zbigniew K; Graff-Radford, Neill R; Boeve, Bradley F; Knopman, David S; Day, Gregory S; Small, Scott A; Dickson, Dennis W; Ward, Michael E; Gendron, Tania F; Zhang, Yongjie; Prudencio, Mercedes; Gitler, Aaron D; Petrucelli, Leonard

Omics-based dissection of alternative splicing and the regulatory architecture in fungal genomes

基于组学的真菌基因组中可变剪接和调控结构的解析

Neves-da-Rocha, João; Lopes, Marcos E R; Santos-Saboya, Maria J; Azevedo, Mayara I G; Petrucelli, Monise F; Rossi, Antonio; Martinez-Rossi, Nilce M

Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders

靶向血浆蛋白质组学揭示了与KIF5A相关SPG10和ALS谱系疾病相关的蛋白质

Dulski, Jarosław; Boddapati, Arun K; Risi, Barbara; Iruzubieta, Pablo; Orlacchio, Antonio; Fernández-Torrón, Roberto; Castillo-Triviño, Tamara; López de Munain, Adolfo; Vucic, Steve; Padovani, Alessandro; Kaat, Laura Donker; Barakat, Tahsin Stefan; Petrucelli, Leonard; Prudencio, Mercedes; Landers, John E; Weishaupt, Jochen H; Prokop, Andreas; Filosto, Massimiliano; Wszolek, Zbigniew K; Pant, Devesh C

Proteomic signatures of carotid plaque vulnerability: Proteolysis, inflammation, metabolic reprogramming, and lipid dysregulation

颈动脉斑块易损性的蛋白质组学特征:蛋白水解、炎症、代谢重编程和脂质失调

Sandoval, Camilo Polania; Meschia, James F; Prudencio, Mercedes; Gendron, Tania; Jacobs, Christopher; Beegle, Richard D; Sandhu, Sukhwinder J S; Mangalaparthi, Kiran K; Sung, Jaeyun; Zhao, Xiaowei; Nassar, Aziza; Farres, Houssam; Petrucelli, Leonard; Pandey, Akhilesh; Erben, Young

The dual role of sertraline: From antidepressant to antifungal drug with broad metabolic disruption

舍曲林的双重作用:从抗抑郁药到具有广泛代谢干扰作用的抗真菌药物

Azevedo, Mayara I G; Santos-Saboya, Maria J; Neves-da-Rocha, João; Petrucelli, Monise F; Martinez-Rossi, Nilce M; Rossi, Antonio

Neurodegeneration risk variants promote lysosomal TMEM106B fibril accumulation

神经退行性疾病风险变异促进溶酶体TMEM106B原纤维的积累。

Replogle, John Michael; Marks, Jordan D; Fernandez, Martin G; Yuan, Hebao; Yu, Dahyun; Winters, Elizabeth; Jawahar, Vidhya Maheswari; Deshmukh, Rishi; Sutanto, Renaldo; Kowal, Isabelle; Frankenfield, Ashley; Shi, Rachel; Carlomagno, Yari; Jansen-West, Karen; Todd, Tiffany W; Kopach, Andrii; Sandra Ndayambaje, Iradukunda; Qi, Yue A; Shantaraman, Ananth; Pozo-Cabanell, Ignacio; Sheth, Udit; Yue, Mei; Duong, Duc; Ferguson, Shawn M; Bennett, David A; Damme, Markus; Boeve, Brad F; Day, Gregory S; Kellman, Benjamin; Skarnes, William C; Petersen, Ronald C; Josephs, Keith A; Graff-Radford, Neill R; McDonough, Justin A; Prudencio, Mercedes; Barmada, Sami J; Zhang, Yongjie; Hao, Ling; DeTure, Michael; Rawlinson, Bailey; Engelberg-Cook, Erica; Casey, Monica Castanedes; Perez, Nathan; Dickson, Dennis W; Wingo, Aliza; Liu, Yue; Seyfried, Nicholas T; Wingo, Thomas S; Mosalaganti, Shyamal; Petrucelli, Leonard; Ward, Michael E

Multimodal analysis of cell-free DNA identifies epigenetic biomarkers for amyotrophic lateral sclerosis diagnosis and progression

利用多模态分析游离DNA,可识别肌萎缩侧索硬化症诊断和进展的表观遗传生物标志物。

Michels, Sebastian; Chen, Chaorong; Ruf, Wolfgang P; Garcia, M Madhy Garcia; Arnold, Frederick J; Wu, Zhuoxing; Bennett, Craig L; Shams, Daniel; Thompson, Leslie M; Walker, Alyssa C; Dickson, Dennis W; Petrucelli, Leonard; Dorst, Johannes; Prudencio, Mercedes; Li, Wei; La Spada, Albert R

Molecular impact of antisense oligonucleotide therapy in C9orf72-associated ALS.

反义寡核苷酸疗法对 C9orf72 相关 ALS 的分子影响。

McEachin Zachary T, Chung Mingee, Stratton Sabrina A, Han Changhee, Kim Woo Jae, Sheth Udit, Thomas Eleanor V, Issenberg Ethan, Kamra Tanvi, Merino Paola, Levites Yona, Raj Nisha, Dammer Eric B, Duong Duc M, Ping Lingyan, Shantaraman Anantharaman, Trautwig Adam N, Gadhavi Joshna, Assefa Ezana, Gearing Marla, Kelly Kaylor M, Roemer Shanu F, DeTure Michael, Asress Seneshaw, Kukar Thomas, Fournier Christina, Dickson Dennis W, Petrucelli Leonard, Golde Todd E, Oskarsson Björn, Gendron Tania F, Seyfried Nicholas T, Glass Jonathan D

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