Results 221 to 230 of about 12,015 (253)

Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant

Neurocase
We present a longitudinal description of a man with the TARDBP I383V variant of frontotemporal dementia (FTD). His progressive changes in behavior and language resulted in a diagnosis of the right temporal variant of FTD, also called the semantic ...
Peter S. Pressman, Danelle J. Carter, E. Ramos, Joie Molden, Kaitlin Smith, Francesca Dino, Corey T. McMillan, David J. Irwin, K. Rascovsky, N. Ghoshal, Marguerite V Knudtson, R. Rademakers, Daniel Geschwind, Tania Gendron, L. Petrucelli, H. Heuer, Bradley F. Boeve, Sami Barmada, Adam L. Boxer, M. Tempini, H. Rosen   +20 more
semanticscholar   +3 more sources

Disease survival and progression in TARDBP ALS patients from Sardinia, Italy

Journal of Neurology, 2023
Common genes implicated in amyotrophic lateral sclerosis (ALS) development may also influence its progression rate. The C9orf72 mutations featured a faster progression rate while the European SOD1 mutations were associated with a slower progression. In this study, we assessed the relationship between TARDBP and ALS progression/survival.ALS incident ...
G. Borghero, F. Pili, A. Muroni, Tommaso Ercoli, M. I. Pateri, S. Pilotto, A. Maccabeo, Giovanni Defazio   +7 more
semanticscholar   +4 more sources

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

Nature Genetics, 2008
Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the degeneration of motor neurons. Here we report eight missense mutations in nine individuals--six from individuals with sporadic ALS (SALS) and three from those with familial ALS ...
E. Kabashi, P. Valdmanis, P. Dion, D. Spiegelman, B. McConkey, C. Velde, J. Bouchard, L. Lacomblez, K. Pochigaeva, F. Salachas, P. Pradat, W. Camu, V. Meininger, N. Dupré, G. Rouleau   +14 more
semanticscholar   +3 more sources

Contribution of TARDBP to Alzheimer's Disease Genetic Etiology

Journal of Alzheimer's Disease, 2010
The nuclear transactive response (TAR) DNA binding protein-43, TDP-43, is a major constituent of the ubiquitinated neuronal inclusions in patients with frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Missense mutations in TDP-43 have been associated with familial and sporadic ALS. Since TDP-43 immunoreactivity was also
Brouwers, Nathalie, Bettens, Karolien, Gijselinck, Ilse, Engelborghs, Sebastiaan, Pickut, Barbara A, Van Miegroet, Helen, Montoya, Ana Gil, Mattheijssens, Maria, Peeters, Karin, De Deyn, Peter P, Cruts, Marc, Sleegers, Kristel, Van Broeckhoven, Christine   +12 more
openaire   +3 more sources

TARDBP mutations in Parkinson's disease and atypical parkinsonisms

2022
Raw data and supplementary material of the manuscript "TARDBP mutations in Parkinson’s disease and atypical parkinsonisms"
Tiloca, Cinzia, Goldwurm, Stefano, Narghes Calcagno, Verde, Federico, Peverelli, Silvia, Calini, Daniela, Zecchinelli, Anna Lena, Sangalli, Davide, Ratti, Antonia, Pezzoli, Gianni, Silani, Vincenzo, Ticozzi, Nicola   +11 more
openaire   +1 more source

Mutational analysis of TARDBP in Parkinson's disease

Neurobiology of Aging, 2013
Mutations in TAR DNA-binding protein (TARDBP) are associated with heterogenic phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and Parkinson's disease. In this study, we investigated the presence of TARDBP mutations in a cohort of 429 Dutch patients with Parkinson's disease. Though we detected 1 silent mutation, p.S332S, no
Blitterswijk, M. van, Es, M.A. van, Verbaan, D., Hilten, J.J. van, Scheffer, H., Warrenburg, B.P. van de, Veldink, J.H., Berg, L.H. van den   +7 more
openaire   +5 more sources

Generation of a C. elegans tdp-1 null allele and humanized TARDBP containing human disease-variants.

microPublication Biology, 2023
Clinical variants of TARDBP are associated with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and other degenerative diseases. The predicted C.
Jeremy J. Lins, Trisha J. Brock, Christopher E. Hopkins, A. Hart   +3 more
semanticscholar   +1 more source

TTR (transthyretin) leads the autophagy disaster relief team against TARDBP/TDP-43 proteinopathy

Autophagy, 2023
TTR (transthyretin) strikes a neuroprotective function in the prevention of amyloid-β (Aβ) deposition in Alzheimer disease (AD). Perturbation of the stringently controlled TARDBP/TDP-43 (TAR DNA binding protein) expression gives rise to cytoplasmic ...
Y. Chu, Pei‐Chuan Ho, K. Tsai
semanticscholar   +1 more source

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

Annals of Neurology, 2009
AbstractTDP‐43 (TAR‐DNA binding protein) aggregates in neuronal inclusions in motoneuron disease (MND), as well as in frontotemporal lobar degeneration (FTLD) and FTLD associated with MND (FTLD‐MND). Mutations in TARDBP gene, coding for TDP‐43, were found in patients with pure MND.
Benajiba, Lina, Le Ber, Isabelle, Camuzat, Agnès, Lacoste, Mathieu, Thomas-Anterion, Catherine, Couratier, Philippe, Legallic, Solenn, Salachas, François, Hannequin, Didier, Decousus, Marielle, Lacomblez, Lucette, Guedj, Eric, Golfier, Véronique, Camu, William, Dubois, Bruno, Campion, Dominique, Meininger, Vincent, Brice, Alexis   +17 more
openaire   +3 more sources

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis

Journal of Neurology, Neurosurgery & Psychiatry, 2010
TAR-DNA-binding protein 43 (TDP-43) has recently been identified as the major pathological protein in abnormal inclusions in neurons and glial cells in sporadic amyotrophic lateral sclerosis (SALS) and SOD1 negative familial cases with amyotrophic lateral sclerosis (FALS). TDP-43 is evolutionarily conserved, consisting of two RNA recognition motifs and
Conforti FL, Sproviero W, Simone IL, Mazzei R, Valentino P, Ungaro C, Magariello A, Patitucci A, La Bella V, Sprovieri T, Tedeschi G, Citrigno L, Gabriele AL, Bono F, Monsurrò MR, Muglia M, Gambardella A, Quattrone A   +17 more
openaire   +6 more sources