Results 51 to 60 of about 12,015 (253)

TARDBP mutations in a cohort of Italian patients with Parkinson’s disease and atypical parkinsonisms

Frontiers in Aging Neuroscience, 2022
BackgroundAggregates of TAR DNA-binding protein of 43 kDa (TDP-43) represent the pathological hallmark of most amyotrophic lateral sclerosis (ALS) and of nearly 50% of frontotemporal dementia (FTD) cases but were also observed to occur as secondary ...
Cinzia Tiloca, Stefano Goldwurm, Narghes Calcagno, Narghes Calcagno, Federico Verde, Federico Verde, Silvia Peverelli, Daniela Calini, Anna Lena Zecchinelli, Davide Sangalli, Davide Sangalli, Antonia Ratti, Antonia Ratti, Gianni Pezzoli, Vincenzo Silani, Vincenzo Silani, Nicola Ticozzi, Nicola Ticozzi   +17 more
doaj   +1 more source

Study of blood biomarkers detected in NULISA to stratify the prospective multicenter ALZAN cohort of memory clinic patients according to ATN status, presence of synucleinopathy and diagnosis [PDF]

Alzheimers Dement
Abstract Background The objective of this study in the multicenter prospective ALZAN cohort is to assess the performance of blood biomarkers for detecting biological processes based on the ATN classification and synuclein seed amplification assay (SAA), as well as for diagnosing Alzheimer's disease (AD) and related dementias, including frontotemporal ...
Lehmann S, Delaby C, Pradeilles N, Assou S, Hirtz C, Busto G, Dupuy B, Duchiron M, Morchikh M, Barnier‐Figue G, Perrein F, Gabelle A, Turpinat C, Jurici S, Bennys K.   +14 more
europepmc   +2 more sources

Modeling Tdp‐43 dependent misprocessing of Stmn2 in vivo [PDF]

Alzheimers Dement
Abstract Background Some cases of Alzheimer's Disease (AD) and Frontotemporal Dementia (FTD) feature the mislocalization of the normally nuclear TAR DNA binding protein (TDP‐43) to the cytoplasm where it is incorporated into inclusions in affected brain regions.
Pickles S, Gaiani L, Lin L, Jansen‐West K, Tong J, Rosso G, Daughrity L, Zhang Y, Petrucelli L.   +8 more
europepmc   +2 more sources

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis [PDF]

, 2010
The finding of TDP-43 as a major component of ubiquitinated protein inclusions in amyotrophic lateral sclerosis (ALS) has led to the identification of 30 mutations in the transactive response-DNA binding protein (TARDBP) gene, encoding TDP-43.
A Yokoseki, BA Hosler, C Lomen-Hoerth, C Vance, Christopher J. McDermott, D Neary, DR Rosen, E Buratti, E Buratti, E Kabashi, Emily F. Goodall, F Gros-Louis, GM Ringholz, H Daoud, Hannah C. Hollinger, I Gijselinck, IF Wang, IR Mackenzie, J Kirby, J Sreedharan, J. Robin Highley, Janine Kirby, JJ Kew, Judith A. Hartley, Karen E. Morrison, L Benajiba, L Corrado, M Morita, M Neumann, MJ Strong, MJ Winton, NJ Rutherford, P Kuhnlein, PA Mercado, Pamela J. Shaw, Paul G. Ince, PM Andersen, R Bo Del, R Lemmens, Rachel Hibberd, RJ Guerreiro, Rudo Masanzu, SH Ou, Stephen B. Wharton, VM Deerlin Van, William Smith, YM Ayala   +46 more
core   +1 more source

Genetic and Clinical Landscape of Chinese Frontotemporal Dementia: Dominance of TBK1 and OPTN Mutations [PDF]

Alzheimers Dement
Abstract Background Our study aims to evaluate the genetic and phenotypic spectrum of Frontotemporal dementia (FTD) gene variant carriers in Chinese populations, investigae mutation frequencies, and assess the functional properties of TBK1 and OPTN variants.
Nan H.
europepmc   +2 more sources

Systematic interaction network filtering identifies CRMP1 as a novel suppressor of huntingtin misfolding and neurotoxicity [PDF]

, 2015
Assemblies of huntingtin (HTT) fragments with expanded polyglutamine (polyQ) tracts are a pathological hallmark of Huntington's disease (HD). The molecular mechanisms by which these structures are formed and cause neuronal dysfunction and toxicity are ...
Andrade-Navarro, Miguel A., Bates, Gillian P., Boeddrich, Annett, Bounab, Yacine, Chaurasia, Gautam, Fournier, David, Friedrich, Ralf P., Futschik, Matthias E., Graham, Rona K., Haenig, Christian, Hayden, Michael R., Hesse, Franziska, Klockmeier, Konrad, Li, Shuang, Nicoletti, Cecilia, Priller, Josef, Riechers, Sean-Patrick, Russ, Jenny, Schnoegl, Sigrid, Sigrist, Stephan, Strempel, Nadine, Stroedicke, Martin, Wanker, Erich E., Wiglenda, Thomas, Yigit, Sargon   +24 more
core   +2 more sources

Antisense oligonucleotide targeting TARDBP-EGFR splicing axis inhibits progression of oral squamous cell carcinoma through ABCA1-regulated cholesterol efflux. [PDF]

Int J Oral Sci
Splice quantitative trait loci (sQTL) serve as another critical link between genetic variations and human diseases, besides expression quantitative trait loci (eQTL). Their role in oral squamous cell carcinoma (OSCC) development remains unexplored.
Ni N, Wang M, Yuan Z, Zhang L, Cai J, Du Q, Li P, Gao C, Zhang H, Li Y, Yuan H.   +10 more
europepmc   +2 more sources

Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways [PDF]

, 2016
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment available. An increasing number of genetic causes of ALS are being identified, but how these genetic defects lead to motor neuron degeneration and ...
Anink, Jasper J., Aronica, Eleonora, Blokhuis, Anna M., Bozzoni, Irene, Demmers, Jeroen A. A., Den Hertog, Jeroen, DINI MODIGLIANI, Stefano, Fumoto, Katsumi, Groen, Ewout J. N., Koppers, Max, Pasterkamp, R. Jeroen, Snelting, Anne, Sodaar, Peter, van Den Berg, Leonard H., van Den Heuvel, Dianne M. A., van Diggelen, Femke, Veldink, Jan H., Verheijen, Bert M.   +17 more
core   +3 more sources

Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis [PDF]

, 2018
TDP-43 (encoded by the gene TARDBP) is an RNA binding protein central to the pathogenesis of amyotrophic lateral sclerosis (ALS). However, how TARDBP mutations trigger pathogenesis remains unknown.
Housman, David E, Wang, Eric T
core   +1 more source

Focus on the Role of D-serine and D-amino Acid Oxidase in Amyotrophic Lateral Sclerosis/Motor Neuron Disease (ALS) [PDF]

, 2018
Highly pathogenic avian influenza (HPAI) H5N1 virus has been circulating in Vietnam since 2003, while outbreaks of HPAI H5N6 virus are more recent, having only been reported since 2014. Although the spatial distribution of H5N1 outbreaks and risk factors
Azzouz, Cappelletti, Chen, Cirulli, Filali, Gill, Horiike, Kaneb, Kawazoe, Kondori, Konno, Lee, Li, Lincecum, Martinez, Mitchell, Mothet, Mothet, Murtas, Nelson, Neumann, Panatier, Paul, Paul, Sasabe, Sasabe, Scott, Sharp, Taylor, Traynor, Tudor, Vincelette, Wang, Wolosker, Wu, Yang   +35 more
core   +3 more sources