Results 91 to 100 of about 12,015 (253)

Spreading of TDP-43 pathology via pyramidal tract induces ALS-like phenotypes in TDP-43 transgenic mice

Acta Neuropathologica Communications, 2021
Transactive response DNA-binding protein 43 kDa (TDP-43) has been identified as the major component of ubiquitinated inclusions found in patients with sporadic amyotrophic lateral sclerosis (ALS).
Xuebing Ding, Zhi Xiang, Chi Qin, Yongkang Chen, Haiyan Tian, Lin Meng, Danhao Xia, Han Liu, Jia Song, Jun Fu, Mingming Ma, Xuejing Wang   +11 more
doaj   +1 more source

A Regulatory Circuitry Between Gria2, miR-409, and miR-495 Is Affected by ALS FUS Mutation in ESC-Derived Motor Neurons [PDF]

, 2018
Mutations in fused in sarcoma (FUS) cause amyotrophic lateral sclerosis (ALS). FUS is a multifunctional protein involved in the biogenesis and activity of several types of RNAs, and its role in the pathogenesis of ALS may involve both direct effects of
Biscarini, Silvia, Bozzoni, Irene, Caffarelli, Elisa, Capauto, Davide, Colantoni, Alessio, Laneve, Pietro, Lu, Lei, Morlando, Mariangela, Peruzzi, Giovanna, Santini, Tiziana, Shneider, Neil A.   +10 more
core   +2 more sources

The Epidemiology of Primary Lateral Sclerosis: Results from a Population‐Based Cohort

Annals of Neurology, EarlyView.
Objective In this population‐based study, we described the epidemiology of primary lateral sclerosis (PLS) in northern Italy and compared the clinical characteristics of patients with PLS to those with predominant upper motor neuron (PUMN) involvement and classic amyotrophic lateral sclerosis (ALS).
Rosario Vasta, Enrico Matteoni, Giorgio Pellegrino, Antonio Canosa, Umberto Manera, Francesca Palumbo, Maurizio Grassano, Sara Cabras, Alessandra Maccabeo, Fabrizio D'Ovidio, Gabriele Mora, Salvatore Gallone, Elisa D'Angelo, Letizia Mazzini, Fabiola De Marchi, Cristina Moglia, Adriano Chiò, Andrea Calvo   +17 more
wiley   +1 more source

Upregulation of sphingomyelin and ABCA8 in response to TDP‐43 pathology in amyotrophic lateral sclerosis brain

Brain Pathology, EarlyView.
Increases in sphingomyelin in response to TDP‐43 pathology in the disease‐affected motor cortex of amyotrophic lateral sclerosis (ALS) brain. Abstract Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease characterized by the degeneration of motor neurons and the presence of TAR DNA‐binding protein 43 (TDP‐43 ...
Finula I. Isik, Russell Pickford, Nicolas Dzamko, Kerry‐Anne Rye, Woojin Scott Kim   +4 more
wiley   +1 more source

Genetic overlap between apparently sporadic motor neuron diseases. [PDF]

PLoS ONE, 2012
Progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS) are devastating motor neuron diseases (MNDs), which result in muscle weakness and/or spasticity. We compared mutation frequencies in genes known to be associated with MNDs between
Marka van Blitterswijk, Lotte Vlam, Michael A van Es, W-Ludo van der Pol, Eric A M Hennekam, Dennis Dooijes, Helenius J Schelhaas, Anneke J van der Kooi, Marianne de Visser, Jan H Veldink, Leonard H van den Berg   +10 more
doaj   +1 more source

Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease [PDF]

, 2010
Objective To report the rare but distinct clinical and neuropathological phenotype of non-familial, rapidly progressive parkinsonism and dementia associated with frontotemporal lobar degeneration with motor neuron disease (FTLD-MND).
de Courten-Myers, Gabrielle M., Espay, Alberto J., Ghetti, Bernardino, Houghton, David J., Litvan, Irene, Murrell, Jill R., Spina, Salvatore   +6 more
core   +1 more source

Deciphering Amyotrophic Lateral Sclerosis: What Phenotype, Neuropathology and Genetics Are Telling Us about Pathogenesis [PDF]

, 2013
Amyotrophic lateral sclerosis (ALS) is characterized phenotypically by progressive weakness and neuropathologically by loss of motor neurons. Phenotypically, there is marked heterogeneity.
Appel, Stanley, Baloh, Robert H., Barohn, Richard, Brooks, Benjamin Rix, Elman, Lauen, Floeter, Mary Kay, Henderson, Christopher, Lomen-Hoerth, Catherine, Macklis, Jeffrey Daniel, Mccluskey, Leo, Mitsumoto, Hiroshi, Prezedborski, Serge, Ravits, John, Ringel, Steven, Rothstein, Jeffrey, Trojanowski, John, Van Den Berg, Leonard   +16 more
core   +1 more source

Transactive Response DNA-Binding Protein (TARDBP/TDP-43) Regulates Cell Permissivity to HIV-1 Infection by Acting on HDAC6

International Journal of Molecular Sciences, 2022
The transactive response DNA-binding protein (TARDBP/TDP-43) influences the processing of diverse transcripts, including that of histone deacetylase 6 (HDAC6).
Romina Cabrera-Rodríguez, Silvia Pérez-Yanes, Rafaela Montelongo, J. Lorenzo-Salazar, J. Estévez‐Herrera, Jonay García-Luis, Antonio Iñigo-Campos, L. A. Rubio-Rodríguez, A. Muñoz-Barrera, R. Trujillo-González, R. Dorta-Guerra, C. Casado, M. Pernas, J. Blanco, C. Flores, A. Valenzuela-Fernández   +15 more
semanticscholar   +1 more source

Co‐localization of tau and TDP‐43 after extracellular vesicle delivery to cells

The FEBS Journal, EarlyView.
Extracellular vesicles (EVs) derived from donor cells transfected with EGFP–2N4R‐tau or mCherry‐wtTDP‐43 were taken up by recipient cells, leading to cytosolic co‐localization of tau and TDP‐43. Molecular modeling revealed that tau and TDP‐43 directly interact through hydrogen bonding, suggesting a mechanistic link underlying their co‐pathology ...
Farhang Aliakbari, Kathryn Volkening, Zahra Nayeri, Aysegul Yucel Polat, Neil Donison, Jacqueline Palik, Michael J. Strong   +6 more
wiley   +1 more source

Downstream Effects of Mutations in SOD1 and TARDBP Converge on Gene Expression Impairment in Patient-Derived Motor Neurons [PDF]

, 2022
Banaja P. Dash, Axel Freischmidt, Jochen H. Weishaupt, Andreas Hermann   +3 more
openalex   +1 more source