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

Single-cell dissection of the human motor and prefrontal cortices in ALS and FTLD

ALS 和 FTLD 中人类运动皮质和前额皮质的单细胞解剖

S Sebastian Pineda, Hyeseung Lee, Maria J Ulloa-Navas, Raleigh M Linville, Francisco J Garcia, Kyriakitsa Galani, Erica Engelberg-Cook, Monica C Castanedes, Brent E Fitzwalter, Luc J Pregent, Mahammad E Gardashli, Michael DeTure, Diana V Vera-Garcia, Andre T S Hucke, Bjorn E Oskarsson, Melissa E Mur

Author Correction: Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation

作者更正:携带 C9orf72 突变的 ALS 和 FTD 患者的单细胞转录组和表观基因组改变存在差异

Li, Junhao; Jaiswal, Manoj K; Chien, Jo-Fan; Kozlenkov, Alexey; Jung, Jinyoung; Zhou, Ping; Gardashli, Mahammad; Pregent, Luc J; Engelberg-Cook, Erica; Dickson, Dennis W; Belzil, Veronique V; Mukamel, Eran A; Dracheva, Stella

Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation

C9orf72突变型ALS和FTD患者的单细胞转录组和表观基因组存在差异性改变

Junhao Li #,Manoj K Jaiswal #,Jo-Fan Chien,Alexey Kozlenkov,Jinyoung Jung,Ping Zhou,Mahammad Gardashli,Luc J Pregent,Erica Engelberg-Cook,Dennis W Dickson,Veronique V Belzil,Eran A Mukamel,Stella Dracheva

Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight

对隐蔽基因和暗基因的系统分析揭示了隐藏在显眼位置的疾病相关基因

Ebbert, Mark T W; Jensen, Tanner D; Jansen-West, Karen; Sens, Jonathon P; Reddy, Joseph S; Ridge, Perry G; Kauwe, John S K; Belzil, Veronique; Pregent, Luc; Carrasquillo, Minerva M; Keene, Dirk; Larson, Eric; Crane, Paul; Asmann, Yan W; Ertekin-Taner, Nilufer; Younkin, Steven G; Ross, Owen A; Rademakers, Rosa; Petrucelli, Leonard; Fryer, John D

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

Poly(GP)蛋白是C9ORF72相关肌萎缩侧索硬化症的有效药效学标志物。

Gendron, Tania F; Chew, Jeannie; Stankowski, Jeannette N; Hayes, Lindsey R; Zhang, Yong-Jie; Prudencio, Mercedes; Carlomagno, Yari; Daughrity, Lillian M; Jansen-West, Karen; Perkerson, Emilie A; O'Raw, Aliesha; Cook, Casey; Pregent, Luc; Belzil, Veronique; van Blitterswijk, Marka; Tabassian, Lilia J; Lee, Chris W; Yue, Mei; Tong, Jimei; Song, Yuping; Castanedes-Casey, Monica; Rousseau, Linda; Phillips, Virginia; Dickson, Dennis W; Rademakers, Rosa; Fryer, John D; Rush, Beth K; Pedraza, Otto; Caputo, Ana M; Desaro, Pamela; Palmucci, Carla; Robertson, Amelia; Heckman, Michael G; Diehl, Nancy N; Wiggs, Edythe; Tierney, Michael; Braun, Laura; Farren, Jennifer; Lacomis, David; Ladha, Shafeeq; Fournier, Christina N; McCluskey, Leo F; Elman, Lauren B; Toledo, Jon B; McBride, Jennifer D; Tiloca, Cinzia; Morelli, Claudia; Poletti, Barbara; Solca, Federica; Prelle, Alessandro; Wuu, Joanne; Jockel-Balsarotti, Jennifer; Rigo, Frank; Ambrose, Christine; Datta, Abhishek; Yang, Weixing; Raitcheva, Denitza; Antognetti, Giovanna; McCampbell, Alexander; Van Swieten, John C; Miller, Bruce L; Boxer, Adam L; Brown, Robert H; Bowser, Robert; Miller, Timothy M; Trojanowski, John Q; Grossman, Murray; Berry, James D; Hu, William T; Ratti, Antonia; Traynor, Bryan J; Disney, Matthew D; Benatar, Michael; Silani, Vincenzo; Glass, Jonathan D; Floeter, Mary Kay; Rothstein, Jeffrey D; Boylan, Kevin B; Petrucelli, Leonard

Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease

保守的DNA甲基化结合额叶皮层和小脑中不同的表达模式,可以区分C9orf72相关性ALS和散发性ALS,并提示SERPINA1与该疾病相关。

Ebbert, Mark T W; Ross, Christian A; Pregent, Luc J; Lank, Rebecca J; Zhang, Cheng; Katzman, Rebecca B; Jansen-West, Karen; Song, Yuping; da Rocha, Edroaldo Lummertz; Palmucci, Carla; Desaro, Pamela; Robertson, Amelia E; Caputo, Ana M; Dickson, Dennis W; Boylan, Kevin B; Rademakers, Rosa; Ordog, Tamas; Li, Hu; Belzil, Veronique V

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

Spt4选择性地调控C9orf72正义和反义突变转录本的表达

Kramer, Nicholas J; Carlomagno, Yari; Zhang, Yong-Jie; Almeida, Sandra; Cook, Casey N; Gendron, Tania F; Prudencio, Mercedes; Van Blitterswijk, Marka; Belzil, Veronique; Couthouis, Julien; Paul, Joseph West 3rd; Goodman, Lindsey D; Daughrity, Lillian; Chew, Jeannie; Garrett, Aliesha; Pregent, Luc; Jansen-West, Karen; Tabassian, Lilia J; Rademakers, Rosa; Boylan, Kevin; Graff-Radford, Neill R; Josephs, Keith A; Parisi, Joseph E; Knopman, David S; Petersen, Ronald C; Boeve, Bradley F; Deng, Ning; Feng, Yanan; Cheng, Tzu-Hao; Dickson, Dennis W; Cohen, Stanley N; Bonini, Nancy M; Link, Christopher D; Gao, Fen-Biao; Petrucelli, Leonard; Gitler, Aaron D

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

C9orf72相关ALS和散发性ALS的脑转录组谱存在显著差异。

Prudencio, Mercedes; Belzil, Veronique V; Batra, Ranjan; Ross, Christian A; Gendron, Tania F; Pregent, Luc J; Murray, Melissa E; Overstreet, Karen K; Piazza-Johnston, Amelia E; Desaro, Pamela; Bieniek, Kevin F; DeTure, Michael; Lee, Wing C; Biendarra, Sherri M; Davis, Mary D; Baker, Matthew C; Perkerson, Ralph B; van Blitterswijk, Marka; Stetler, Caroline T; Rademakers, Rosa; Link, Christopher D; Dickson, Dennis W; Boylan, Kevin B; Li, Hu; Petrucelli, Leonard

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

c9FTD/ALS中C9orf72基因表达降低是由组蛋白三甲基化引起的,这是一种可在血液中检测到的表观遗传事件。

Belzil, Veronique V; Bauer, Peter O; Prudencio, Mercedes; Gendron, Tania F; Stetler, Caroline T; Yan, Irene K; Pregent, Luc; Daughrity, Lillian; Baker, Matthew C; Rademakers, Rosa; Boylan, Kevin; Patel, Tushar C; Dickson, Dennis W; Petrucelli, Leonard