Results 61 to 70 of about 9,658 (171)

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention [PDF]

, 2013
SummaryA hexanucleotide GGGGCC repeat expansion in the noncoding region of the C9ORF72 gene is the most common genetic abnormality in familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The function of the C9ORF72
Vidensky, Svetlana, Poth, Erin M., Zhang, Ping-Wu, Heusler, Aaron R., Pham, Jacqueline T., Traynor, Bryan J., Maragakis, Nicholas, Tienari, Pentti J., Sattler, Rita, Haeusler, Aaron R., Hoover, Benjamin, Petrucelli, Leonard, Donnelly, Christopher J., Fines, Daniel M., Zhang, Ping Wu, Daley, Elizabeth L., Rothstein, Jeffrey D., Rigo, Frank, Blackshaw, Seth, Mistry, Nipun A., Bennett, C. Frank, Wang, Jiou   +21 more
core   +1 more source

Negative regulation of TREM2-mediated C9orf72 poly-GA clearance by the NLRP3 inflammasome

Cell Reports, 2023
Summary: Expansion of the hexanucleotide repeat GGGGCC in the C9orf72 gene is the most common genetic factor in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Xiaoqiu Shu, Chen Wei, Wen-Yo Tu, Keke Zhong, Shuyuan Qi, Ailian Wang, Lei Bai, Shan-Xin Zhang, Benyan Luo, Zhen-Zhong Xu, Kejing Zhang, Chengyong Shen   +11 more
doaj   +1 more source

m6A‐Mediated Glycolysis by IL‐37 Drives T Cell Metabolic Reprogramming to Regulate Colitis

Advanced Science, EarlyView.
This study identifies an IL‐37/SIGIRR‐METTL14 regulatory axis that suppresses global m6A modification in CD4+ T cells. IL‐37 signaling, mediated through SIGIRR, inhibits IRAK4 and JNK phosphorylation, leading to downregulation of the methyltransferase METTL14.
Xiaoyan Wang, Jiadong Yu, Guolin Li, Ya Li, Fanlian Zeng, Jing Hu, Yifan Zhou, Chengcheng Yue, Qixiang Zhao, Chen Zhang, Hong Zhou, Fulei Zhao, Yawen Hu, Pei Zhou, Linna Gu, Yuting Feng, Mingxiang He, Shishi Huang, Xiaochi Sun, Xinmeng Wang, Jie Tang, Xinyu Zeng, Wenling Wu, Nongyu Huang, Xinai Cui, Kaijun Cui, Jiong Li   +26 more
wiley   +1 more source

Investigating the Nuclear Function of the C9orf72 Protein in Amyotrophic Lateral Sclerosis [PDF]

, 2018
Amyotrophic lateral sclerosis (ALS) is a terminal neurodegenerative disorder where death of the upper and lower motor neurons causes progressive muscle wasting and paralysis.
Gibson, Yolanda B
core  

Moderate intrinsic phenotypic alterations in ALS/FTD iPSC-microglia despite the presence of C9orf72 pathological features [PDF]

, 2023
While motor and cortical neurons are affected in C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD), it remains largely unknown if and how non-neuronal cells induce or exacerbate neuronal damage. We differentiated C9orf72 ALS/FTD
Gendron, Tania F, McQuade, Amanda, Donnelly, Christopher J, Lall, Deepti, Tzioras, Makis, Sattler, Rita, Gittings, Lauren M, Rabichow, Benjamin E, Almeida, Sandra, Burciu, Camelia, Blurton-Jones, Mathew, Rose, Jamie, Spires-Jones, Tara, Bhatia, Divya, Pevey, Ryan, Alsop, Eric, Levy, Jennifer, Marks, Michael, Singer, Mo, Hung, Shu-Ting, Gao, Fen-Biao, Moore, Stephen, Saul, Justin, Mota, Thomas A, Hutchins, Elizabeth, Ichida, Justin, Baloh, Robert H, Logemann, Amber, Van Keuren-Jensen, Kendall, Lorenzini, Ileana, Bustos, Lynette M, Bowser, Robert   +31 more
core   +2 more sources

Unraveling the Role of RNA Mediated Toxicity of C9orf72 Repeats in C9-FTD/ALS

Frontiers in Neuroscience, 2017
The most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is intronic hexanucleotide (G4C2) repeat expansions (HRE) in the C9orf72 gene.
Vijay Kumar, Gulam M. Hasan, Md. Imtaiyaz Hassan   +2 more
doaj   +1 more source

Molecular and Cellular Hallmarks of Age‐Related Vestibular Hair Cell Degeneration

Advanced Science, EarlyView.
This study utilizes single‐cell RNA‐seq transcriptomes, advanced imaging, and electrophysiology to examine universal and cell‐type‐specific aging signatures of vestibular hair cells. The study shows that impaired hair bundle function is a key driver of age‐related vestibular dysfunction.
Samadhi Kulasooriya, Huizhan Liu, Sarath Vijayakumar, Celia Bloom, Zhenhang Xu, Shu Tu, Benjamin J. Borgmeier, Mi Zhou, Litao Tao, Bechara Kachar, David Z. He   +10 more
wiley   +1 more source

Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death [PDF]

, 2014
SummaryExpanded GGGGCC (G4C2) nucleotide repeats within the C9ORF72 gene are the most common genetic mutation associated with both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Shi, Yingxiao, Krishnamurthy, Karthik, Pandey, Udai B., Tan, Wenzhi, Trotti, Davide, Markandaiah, Shashirekha S., Wen, Xinmei, Lin, Shaoyu, Monaghan, John, Westergard, Thomas, Shneider, Neil A., Ichida, Justin K., Pasinelli, Piera   +12 more
core   +1 more source

C9orf72 gene networks in the human brain correlate with cortical thickness in C9-FTD and implicate vulnerable cell types

Frontiers in Neuroscience
IntroductionA hexanucleotide repeat expansion (HRE) intronic to chromosome 9 open reading frame 72 (C9orf72) is recognized as the most common genetic cause of amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and ALS-FTD.
Iris J. Broce, Iris J. Broce, Daniel W. Sirkis, Ryan M. Nillo, Luke W. Bonham, Luke W. Bonham, Suzee E. Lee, Bruce L. Miller, Patricia A. Castruita, Virginia E. Sturm, Virginia E. Sturm, Leo S. Sugrue, Rahul S. Desikan, Jennifer S. Yokoyama, Jennifer S. Yokoyama, Jennifer S. Yokoyama   +15 more
doaj   +1 more source

Structural Polymorphism of polyG Inclusions Revealed by In Situ Cryo‐Electron Tomography

Advanced Science, EarlyView.
Correlative cryo‐electron tomography in primary cortical neurons and NIID mouse brain tissue reveals that polyG inclusions are interconnected ribbon‐like assemblies rather than canonical amyloid fibrils. Multiple compartment‐specific ribbon states show distinct 26S proteasome accessibility, while cytoplasmic ribbons contact and deform ER‐like ...
Yunwen Qian, Yalan Wan, Chen Chen, Xiaoyu Zheng, Wenjing Du, Junhan Yang, Zhihao Quan, Biyu Yang, Jiaxi Yu, Jie Zheng, Zhaoxia Wang, Jianwen Deng, Qiang Guo   +12 more
wiley   +1 more source