Results 71 to 80 of about 12,015 (253)

HDAC6 inhibition restores TDP‐43 pathology and axonal transport defects in human motor neurons with TARDBP mutations

EMBO Journal, 2021
TDP‐43 is the major component of pathological inclusions in most ALS patients and in up to 50% of patients with frontotemporal dementia (FTD). Heterozygous missense mutations in TARDBP, the gene encoding TDP‐43, are one of the common causes of familial ...
Raheem Fazal, S. Boeynaems, A. Swijsen, Mathias De Decker, L. Fumagalli, M. Moisse, Joni Vanneste, Wenting Guo, R. Boon, T. Vercruysse, K. Eggermont, B. Swinnen, Jimmy Beckers, Donya Pakravan, T. Vandoorne, P. Vanden Berghe, C. Verfaillie, L. Van Den Bosch, P. van Damme   +18 more
semanticscholar   +1 more source

TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.

PLoS ONE, 2008
BackgroundTAR DNA binding protein, encoded by TARDBP, was shown to be a central component of ubiquitin-positive, tau-negative inclusions in frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS).
Rita J Guerreiro, Jennifer C Schymick, Cynthia Crews, Andrew Singleton, John Hardy, Bryan J Traynor   +5 more
doaj   +1 more source

Protective paraspeckle hyper-assembly downstream of TDP-43 loss of function in amyotrophic lateral sclerosis [PDF]

, 2018
Background Paraspeckles are subnuclear bodies assembled on a long non-coding RNA (lncRNA) NEAT1. Their enhanced formation in spinal neurons of sporadic amyotrophic lateral sclerosis (ALS) patients has been reported but underlying mechanisms are unknown ...
Tatyana A. Shelkovnikova, Michail S. Kukharsky, Haiyan An, Pasquale Dimasi, Svetlana Alexeeva, Osman Shabir, Paul R. Heath, Vladimir L. Buchman, AE Renton, M DeJesus-Hernandez, J Sreedharan, S Lattante, M Neumann, T Arai, AH Fox, T Naganuma, CM Clemson, S Hennig, H Sunwoo, T Hirose, K Imamura, Z Zhang, L Jiang, H Choudhry, D Chakravarty, C Adriaens, Y Nishimoto, S Nakagawa, S Thomas-Jinu, TA Shelkovnikova, A Chesi, HJ Kim, JR Tollervey, M Polymenidou, MS Kukharsky, L Cong, TA Shelkovnikova, AE Renton, Y Kawahara, E Buratti, H Ota, M Morlando, GS Tan, C Lagier-Tourenne, TK Saldi, E White, SR Heras, BJ Liddicoat, F Weber, H Kaneko, M Marullo, SJ Marciniak, GJ Seo, LL Chen, S Melo, G Shan, A Emde, IE Schor, T Misteli, T Yamazaki, C Figueroa-Romero, A Freischmidt, E Gascon, EF Goodall, C Eitan, D Campos-Melo, S Bottini, A Heyam, V Tarallo, NM Mannion, A Ruggieri, S Porta, W Li, TP Hurst, KB Chiappinelli, RA Elbarbary, G Barry, F Zhang, JA West   +78 more
core   +3 more sources

First Case of TARDBP-Related Amyotrophic Lateral Sclerosis in Korea

Journal of Clinical Neurology, 2020
open
Hee Jo Han, Hyung Jun Park, UnKyu Yun, Young-Chul Choi   +3 more
openaire   +3 more sources

Mutational analysis of TARDBP in neurodegenerative diseases [PDF]

Neurobiology of Aging, 2011
Neurodegenerative diseases are often characterized by the presence of aggregates of misfolded proteins. TDP-43 is a major component of these aggregates in amyotrophic lateral sclerosis (ALS), but has also been observed in Alzheimer's (AD) and Parkinson's Diseases (PD).
N. Ticozzi, A. L. LeClerc, M. Van Blitterswjk, P. Keagle, D. M. McKenna Yasek, P. C. Sapp, V. Silani, A. M. Wills, R. H. Brown J.r., J. E. Landers   +9 more
openaire   +3 more sources

Non-genetically modified models exhibit TARDBP mRNA increase due to perturbed TDP-43 autoregulation

Neurobiology of Disease, 2019
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by accumulation of fragmented insoluble TDP-43 and loss of TDP-43 from the nucleus.
Akihiro Sugai, Taisuke Kato, Akihide Koyama, Yuka Koike, Takuya Konno, Tomohiko Ishihara, Osamu Onodera   +6 more
doaj   +1 more source

Accuracy of a machine learning method based on structural and locational information from AlphaFold2 for predicting the pathogenicity of TARDBP and FUS gene variants in ALS

BMC Bioinformatics, 2023
Background In the sporadic form of amyotrophic lateral sclerosis (ALS), the pathogenicity of rare variants in the causative genes characterizing the familial form remains largely unknown.
Yuya Hatano, Tomohiko Ishihara, Osamu Onodera   +2 more
doaj   +1 more source

Potential of activated microglia as a source of dysregulated extracellular microRNAs contributing to neurodegeneration in amyotrophic lateral sclerosis [PDF]

, 2020
Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron degeneration in adults, and several mechanisms underlying the disease pathology have been proposed.
Christoforidou, Eleni, Hafezparast, Majid, Joilin, Greig   +2 more
core   +1 more source

Gene expression profiling of the dorsolateral and medial orbitofrontal cortex in schizophrenia [PDF]

, 2016
Schizophrenia is a complex polygenic disorder of unknown etiology. Over 3,000 candidate genes associated with schizophrenia have been reported, most of which being mentioned only once.
Babić Leko, M, Borovečki, F, Fuller, HR, Hof, PR, Kirincich, J, Mayer, D, Mladinov, M, Sedmak, G, Šimić, G, Štajduhar, A   +9 more
core   +2 more sources

Lysosomal Dysfunction in Amyotrophic Lateral Sclerosis: A Familial Case Linked to the p.G376D TARDBP Mutation

International Journal of Molecular Sciences
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Consequent to the loss of these cells, neuromuscular functions decline, causing progressive weakness, muscle wasting, and paralysis, leading to death in 2 ...
R. Romano, Victoria Stefania Del Fiore, G. Ruotolo, M. Mazzoni, Jessica Rosati, F. Conforti, Cecilia Bucci   +6 more
semanticscholar   +1 more source