Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE Fragments of the TAR DNA-binding protein 43 (TDP43) are major components of intracellular aggregates associated with amyotrophic lateral sclerosis and frontotemporal dementia. 29987190 2018
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE The hallmark neuronal cytoplasmic inclusions of sporadic ALS (sALS) predominantly comprise a nuclear RNA processing protein, TDP-43 encoded by the gene TARDBP, a discovery that emerged from high throughput analysis of human brain tissue from patients with frontotemporal dementia (FTD) who share a common molecular pathology with ALS. 22105541 2011
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Thus, premature polyadenylation-mediated reduction in stathmin-2 is a hallmark of ALS-FTD that functionally links reduced nuclear TDP-43 function to enhanced neuronal vulnerability. 30643298 2019
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE TDP-43 has been identified as a major component of ubiquitin-positive tau-negative cytoplasmic inclusions in frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) and in amyotrophic lateral sclerosis (ALS). 21678031 2011
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE Defining a cellular signature of aggregated TDP-43 common to nearly all MND and a large proportion of frontotemporal dementia (FTD), has placed MND alongside more traditional cerebral neurodegeneration. 27956443 2016
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Mutations in 7 known genes (MAPT, GRN, C9orf72, VCP, CHMP2B, and, rarely, TARDBP and FUS) are associated with frontotemporal dementia, and the pathologic classification of frontotemporal lobar degeneration has recently been modified to reflect these discoveries. 24709683 2014
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE <b>Background:</b> The neuropathology of patients with frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS) due to a <i>C9orf72</i> mutation is characterized by two distinct types of characteristic protein depositions containing either TDP-43 or so-called dipeptide repeat proteins that extend beyond frontal and temporal regions. 29599716 2018
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Aggregates of the RNA-binding protein TDP-43 (TAR DNA-binding protein) are a hallmark of the overlapping neurodegenerative disorders amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. 30824544 2019
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Cytoplasmic aggregates and nuclear depletion of the ubiquitous RNA-binding protein TDP-43 have been described in the autoptic brain tissues of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTLD) patients and both TDP-43 loss-of-function and gain-of-function mechanisms seem to contribute to the neurodegenerative process. 31766750 2019
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE The C9ORF72 mutation is the most common cause of familial FTD, recent pathological descriptions challenge existing TDP-43 based hypotheses of sporadic FTD pathogenesis. 24445903 2014
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Abnormal distribution, modification and aggregation of transactivation response DNA-binding protein 43 (TDP-43) are the hallmarks of multiple neurodegenerative diseases, especially frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) and amyotrophic lateral sclerosis (ALS). 22029574 2011
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE In this study we excluded mutations and copy number variations in the gene encoding TDP-43 (TARDBP) from an extended series of 173 FTD and 237 ALS patients. 18068872 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE The predominant neuropathology is FTLD with TAR DNA-binding protein (TDP-43) inclusions (FTLD-TDP). 20154673 2010
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE The neuropathology associated with most FTD is characterized by abnormal cellular aggregates of either transactive response DNA-binding protein with Mr 43 kDa (TDP-43) or tau protein. 19674978 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE (1) Degeneration of white matter in sporadic FTLD-TDP was characterized by increased vacuolation and GI, (2) pathological changes were topographically distributed, which suggests propagation of pathological TDP-43 in specific groups of fibers, and (3) both white matter pathology and gray matter pathology need to be considered to quantify the pathological "load" in FTLD-TDP.. 28128723 2017
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE We describe novel transactivation response DNA-binding protein of 43 kd (TDP-43)-positive structures in the brains of patients with frontotemporal lobar degeneration with ubiquitin-positive inclusions and familial Lewy body disease. 19816201 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE It is not yet possible to test for the specific FTD pathologies (tau or TDP-43); however, a diagnosis of FTD may be "imaging supported" based upon specific MRI or FDG-PET findings. 29134465 2017
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE Using TDP-43(A315T) mice, an ALS and FTD model with marked cortical pathology, we found that hyperactive somatostatin interneurons disinhibited layer 5 pyramidal neurons (L5-PNs) and contributed to their excitotoxicity. 26900927 2016
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE A combination of whole-exome sequencing, Sanger sequencing and fragment analysis/Southern blot was performed in order to identify pathogenic mutations and novel variants in these genes as well as other FTD-related genes such as the 'charged multivesicular body protein 2B' (CHMP2B), the 'FUS RNA binding protein' (FUS), the 'TAR DNA binding protein' (TARDBP), the 'sequestosome1' (SQSTM1), and the 'valosin containing protein' (VCP). 27632209 2016
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE However, the most common clinical syndrome (behavioural variant frontotemporal dementia) was pathologically heterogeneous; while pathologically proven Pick's disease and corticobasal degeneration were clinically heterogeneous, and TDP-43 type A pathology was associated with similar clinical features in cases with and without progranulin mutations. 21908872 2011
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE These results suggest that neurons in the developing forebrain are extremely sensitive to TDP-43 overexpression and that timing of TDP-43 overexpression in transgenic mice must be considered when distinguishing normal roles of TDP-43, particularly as they relate to development, from its pathogenic role in FTLD-TDP and other TDP-43 proteinopathies. 22539017 2012
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE TDP-43 (transactive- response DNA binding protein) amazes structural biologist as its aberrant ubiquitinated cytosolic inclusions is largely involved in neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 30315897 2019
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Here, we report that, in the absence of other components, TDP-43 spontaneously forms aggregates bearing remarkable ultrastructural similarities to TDP-43 deposits in degenerating neurons of ALS and FTLD-U patients [corrected] . 19465477 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE We developed transgenic mice conditionally overexpressing human wild-type TDP-43 protein (hTDP-43-WT) in forebrain neurons, a model that recapitulates several key features of FTD. 31068973 2019
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 AlteredExpression disease BEFREE Cytoplasmic inclusions of TDP-43, which are accompanied by a depletion of nuclear TDP-43, are observed in most amyotrophic lateral sclerosis cases and nearly half of frontotemporal dementia cases. 29562314 2018