TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE The semantic variant of primary progressive aphasia (svPPA) is typically associated with frontotemporal lobar degeneration (FTLD) with longTAR DNA-binding protein (TDP)-43-positive neuropil threads and dystrophic neurites (type C), and is only rarely due to a primary tauopathy or Alzheimer's disease. 28986472 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE TDP-43 is an RNA-binding protein active in splicing that concentrates into membraneless ribonucleoprotein granules and forms aggregates in amyotrophic lateral sclerosis (ALS) and Alzheimer's disease. 29438978 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE TDP-43 inclusions are also found in affected neurons of patients with other neurodegenerative diseases including amyotrophic lateral sclerosis (ALS) and Alzheimer's disease. 28358904 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Transactive response DNA-binding protein of 43 kDa (TDP-43), a third protein, has recently garnished a lot of attention in Alzheimer's disease where it is associated with memory loss and amygdala and hippocampal atrophy. 31056344 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE TARDBP/TDP-43 (TAR DNA binding protein) proteinopathies are a common feature in a variety of neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), and Alzheimer disease (AD). 31690171 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE These findings support a role for nuclear depletion of TDP-43 in the pathogenesis of AD and provide strong rationale for developing novel therapeutics to alleviate the depletion of TDP-43 and functional antemortem biomarkers associated with its nuclear loss. 27785573 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Resistance and resilience to Alzheimer's disease pathology are associated with reduced cortical pTau and absence of limbic-predominant age-related TDP-43 encephalopathy in a community-based cohort. 31174609 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE In controls, higher age at death was associated with prevalence of TDP-43 pathology and higher TDP-43 in AD stage, suggesting that this type of TDP-43 pathology may partly be an age-associated phenomenon. 27495267 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE Although AD with TDP-43/Hippocampal sclerosis pathology was greater in number in women than men, the difference was not significant after adjustments for age at death and other confounders. 31128096 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE The neuropathologic traits of interest were pathologic AD according to modified NIA-Reagan criteria, three quantitative measures of AD pathology (global AD pathology score, β-amyloid load and PHFtau tangle density), macro- and micro-scopic infarcts, neocortical Lewy bodies, TDP-43 and hippocampal sclerosis. 31269985 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE TDP-43 pathological changes, of the kind seen in many elderly individuals with Alzheimer's disease, were seen in only two FTLD-tau cases--a 70-year-old male with exon 10 + 13 mutation in MAPT, and a 73-year-old female with corticobasal degeneration. 24861427 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE After accounting for age, apolipoprotein ε4 and other pathologies, TDP-43 had a strong effect on cognition, memory loss and medial temporal atrophy in AD. 24659241 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE In PPA patients with a non-AD profile (presumably FTLD), two different clusters could be identified according to the τP - 181/τT ratio, possibly corresponding to the two major FTLD pathologies (tau and TDP-43). 27858708 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE TDP-43 inclusions are also found in up to approximately 60% of Alzheimer's disease (AD) brains. 25442115 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Despite the relatively small sample size, our results indicate a possible genetic association between TDP- 43 and AD. 19851068 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE She was found to have multiple pathological processes: corticobasal degeneration (CBD), Alzheimer's disease (AD), and TAR DNA-binding protein (TDP)-43 type A. 31033382 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Recent studies demonstrate that several neurodegenerative diseases, including AD exhibit RNA-binding proteins (RBPs) pathologies, including TAR DNA -binding protein (TDP-43), fused in sarcoma (FUS), superoxide dismutase (SOD1) and T-interacting antigen-1 (TIA-1), highlighting the role of RBPs in neurodegeneration. 30367664 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE We investigated the contribution of rare variants in seven genes of known relevance to dementias (β-amyloid precursor protein (APP), PSEN1/2, MAPT (microtubule-associated protein tau), fused in sarcoma (FUS), granulin (GRN) and TAR DNA-binding protein 43 (TDP-43)) to PD and PD plus dementia (PD+D) in a discovery sample of 376 individuals with PD and followed by the genotyping of 25 out of the 27 identified variants with a minor allele frequency <5% in 975 individuals with PD, 93 cases with Lewy body disease on neuropathological examination, 613 individuals with Alzheimer's disease (AD), 182 cases with frontotemporal dementia and 1014 general population controls. 25604855 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 AlteredExpression disease BEFREE We observed a significant increase (200%) in the levels of TDP-43 in cortical autopsies of late stage AD patients. 21376022 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE TDP-43 is a multifunctional RNA-binding protein found to be a major protein component of intracellular inclusions found in neurodegenerative disorders such as Fronto Temporal Lobar Degeneration, Amyotrophic Lateral Sclerosis, and Alzheimer Disease. 21031599 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE We quantified the neuronal cytoplasmic inclusions, glial inclusions, neuronal intranuclear inclusions, dystrophic neurites, surviving neurones, abnormally enlarged neurones, and vacuoles in regions of the frontal and temporal lobe using a phosphorylation-independent TDP-43 antibody in 32 cases of FTLD-TDP comprising sporadic and familial cases, with associated pathology such as hippocampal sclerosis (HS) or Alzheimer's disease (AD), and four neuropathological subtypes using TDP-43 immunohistochemistry. 21696412 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE These results suggest that the behavioral defects associated with loss of TBPH throughout the nervous system can be associated with defects in a small number of genes in a limited number of central neurons, rather than peripheral defects.<b>SIGNIFICANCE STATEMENT</b> TDP-43 dysfunction is a common feature in neurodegenerative diseases, including amyotrophic lateral sclerosis, frontotemporal lobar dementia, and Alzheimer's disease. 28847811 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Compared to the AD dementia group, the Resilient group had less CVD, no HS and less cortical ARTAG, TDP-43 and Lewy pathology. 29916037 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE This case suggests that the TDP-43 inclusions in PPA-frontotemporal lobar degeneration are more tightly linked to neuronal death and dysfunction than neurofibrillary and amyloid deposits in PPA-Alzheimer disease. 20479359 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE In order to examine the role of TDP-43 in AD, we developed a transgenic mouse that overexpresses hippocampal and cortical neuronal TDP-43 in a mouse expressing familial mutations (K595N and M596L) in APP and presenilin 1 (PSEN1ΔE9). 28416393 2017