Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 Mutations of the progranulin gene lead to progranulin haploinsufficiency and to frontotemporal lobar degeneration (FTD) with TDP-43 positive inclusions. 19618231 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Transactive response DNA-binding protein of 43 kDa (TDP-43) has recently been identified as a major ubiquitinated constituent of neuronal and glial inclusions in frontotemporal lobar degeneration with ubiquitin-positive inclusions and in amyotrophic lateral sclerosis. 18723384 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE A similar distribution of TDP-43 inclusions is seen in sporadic Alzheimer disease, but it differs from that seen in amyotrophic lateral sclerosis and frontotemporal dementia. 20008652 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE The aim of the present study was to evaluate whether TARDBP gene mutations may be associated with FTD. 19655382 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE These findings reveal an essential role for TDP-43 in dendritic structural integrity, supporting the notion that loss of normal TDP-43 function in diseased neurons may compromise neuronal connectivity before neuronal cell loss in FTD and ALS. 19781077 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. 19609911 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE There is no evidence, that common variants in TDP-43 confer a strong risk to the development of sporadic FTD. 17614162 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Given the heterogeneous and, in part, conflicting nature of the recent findings, we here review pathological TDP-43 and its relationship to human disease with a special focus on ALS and FTLD-U. 19271105 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease GENOMICS_ENGLAND Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations. 20697052 2010
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE The seminal discoveries of accumulation of TDP-43 in most cases of ALS and the most frequent form of FTD, frontotemporal lobar degeneration with ubiquitinated inclusions, followed by identification of FUS as the novel pathological protein in a small subset of patients with ALS and various FTD subtypes provide clear evidence that these disorders are related. 20864052 2010
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE The majority of pathologies associated with FTLD clinical syndromes include either tau-positive (FTLD-TAU) or TAR DNA-binding protein 43 (TDP-43)-positive (FTLD-TDP) inclusion bodies. 20369906 2010
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE TDP-43 proteinopathy (amyotrophic lateral sclerosis and frontotemporal lobar degeneration with ubiquitin-positive inclusions) is a newly categorized group of neurodegenerative disorders characterized by abnormal accumulation and mislocalization of nuclear TDP-43 protein in the neuronal cytoplasm. 20083106 2010
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 TDP-43 positive inclusions are also a feature of amyotrophic lateral sclerosis pathology, corroborating the observation of overlapping clinical features between the two conditions and reaffirming the FTD-ALS disease spectrum. 20413882 2010
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Of the 100, 34 have died, with pathological confirmation in 24; 18 had frontotemporal lobar degeneration with ubiquitin-positive inclusions (13 of 13 confirmed TAR DNA binding protein-43 positive), and 3 had classic tau-positive Pick bodies and 3 had Alzheimer's pathology. 19805492 2010
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Transactivation response DNA-binding protein 43 (TDP-43) is a principal component of ubiquitinated inclusions in frontotemporal lobar degeneration with ubiquitin-positive inclusions and in amyotrophic lateral sclerosis (ALS). 20702714 2010
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE In this Review, we summarize the current evidence regarding the normal function of TDP-43 and the TDP-43 pathology observed in FTLD-TDP, ALS, and other neurodegenerative diseases wherein TDP-43 pathology co-occurs with other disease-specific lesions (for example, with amyloid plaques and neurofibrillary tangles in Alzheimer disease). 20234357 2010
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Pathogenic TARDBP mutations that impair TDP-43 function could therefore be related to neuronal degeneration in ALS and FTD. 21086759 2010
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Since the identification of phosphorylated and truncated transactive response DNA-binding protein 43 (TDP-43) as a primary component of ubiquitinated inclusions in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin-positive inclusions, and the discovery that mutations in the TDP-43 gene cause ALS, much effort has been directed towards establishing how TDP-43 contributes to the development of neurodegeneration. 20202122 2010
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Inclusions of TDP-43 are hallmarks of frontotemporal dementia and amyotrophic lateral sclerosis. 19910924 2010
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Four hundred thirty-four patients with FTD, including primary progressive aphasia, semantic dementia, FTD/amyotrophic lateral sclerosis (ALS), FTD/motor neuron disease, corticobasal syndrome/corticobasal degeneration, progressive supranuclear palsy, Pick disease, dementia lacking distinctive histopathology, and pathologically confirmed cases of frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U); and 111 non-FTD cases (controls) in which TDP-43 deposits were a prominent neuropathological feature, including subjects with ALS, Guam ALS and/or parkinsonism dementia complex, Guam dementia, Alzheimer disease, multiple system atrophy, and argyrophilic grain disease. 20142524 2010
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Pathology showed typical PD-type Lewy body disease (LBD) in most patients, whereas in others there was 'pure' nigral degeneration (one with TDP-43-positive inclusions), diffuse LBD, or tau-, alpha-synuclein- or ubiquitin-positive pathology reminiscent of progressive supranuclear gaze palsy, multisystem atrophy, and frontotemporal dementia with ubiquitin-positive inclusions. 20197701 2010
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE The ubiquitin-positive and TAR DNA binding protein 43-positive inclusions that were found at autopsy confirmed the diagnosis of FTD. 20212429 2010