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 These data suggest that of the regions studied, TDP-43 pathology in the ATPC is an important early neocortical stage of TDP-43 progression in aging and AD while extension of TDP-43 pathology to the midfrontal cortex is a late stage associated with more severe and global cognitive impairment. 29716643 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Recent studies suggested that AD pathogenesis could cause the accumulation of TDP-43, while abnormal TDP-43 accumulation could also lead to abnormal tau expression. 28960544 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Importantly, TDP-43 proteinopathy, characterized by aberrant phosphorylation, ubiquitination, cleavage or nuclear depletion of TDP-43 in neurons and glial cells, is a common prominent pathological feature of various major neurodegenerative diseases including ALS, FTD, and Alzheimer's disease (AD). 31445085 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE In this review, we summarize some of the pathological mechanisms implicated in the sporadic AD and highlight the data for several established and novel fluid biomarkers (including BACE1, TREM2, YKL-40, IP-10, neurogranin, SNAP-25, synaptotagmin, α-synuclein, TDP-43, ferritin, VILIP-1, and NF-L) associated with each mechanism. 30488277 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE We investigated relationships between antemortem global cognitive scores and β-amyloid (Aβ), tau, TDP-43, synaptic proteins and other key AD neuropathological markers assessed by biochemical approaches in postmortem anterior parietal cortex samples from 36 subjects (12 MCI, 12 AD and 12 not cognitively impaired) from the Religious Orders Study. 28158844 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Mice lacking TDP-43 in microglia exhibit reduced amyloid load in a model of Alzheimer's disease (AD) but at the same time display drastic synapse loss, even in the absence of amyloid. 28669544 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Insoluble aggregates containing TDP-43 are widely observed in the diseased brain, and defined as "TDP-43 pathology" in a spectrum of neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS), Alzheimer's disease and ALS with frontotemporal dementia. 30450515 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE We provide an overview of what is known about TDP-43 in AD, normal aging and in other disorders and suggest that TDP-43 proteinopathies be considered in two classes - primary and secondary. 21326809 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Another patient presented at age 54 years with logopenic progressive aphasia and, at autopsy, showed both frontotemporal lobar degeneration with TDP-43 inclusions and AD. 23609919 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Thus, pathological TDP-43 may contribute the cognitive impairments in familial and sporadic forms of Alzheimer disease. 20008652 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Four cases had pathologically confirmed CTE; concomitant pathologies included Alzheimer's disease (N = 6), TDP-43 (N = 6), cerebral amyloid angiopathy (N = 5), hippocampal sclerosis (N = 2), corticobasal degeneration (N = 1), dementia with Lewy bodies (N = 1), and vascular pathology (N = 1); and all would have contributed synergistically to the clinical manifestations. 28205009 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Cytoplasmic aggregation of TDP-43 has been observed in the brains of individuals with chronic traumatic encephalopathy or Alzheimer's disease, diseases in which neurofibrillary tangles of hyperphosphorylated tau are hallmarks. 28487370 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE The aggregation and deposition of transactivation response DNA-binding protein 43 (TDP-43) in neurons and astrocytes is characteristic in a number of neurodegenerative diseases including Alzheimer's disease, frontotemporal lobar degeneration, and amyotrophic lateral sclerosis. 29153610 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE In the NS, there was a significant association between cognitive performance and TDP-43 (OR 1.94 p = 0.005, 95% CI 1.22-3.09) (HS remained significant, but AD did not). 30452409 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Taken together, our findings suggest that the elevation of CK1ε in AD brain may phosphorylate TDP-43, promote its cytoplasmic aggregation and suppress its function in tau mRNA processing, leading to acceleration/exacerbation of tau pathology. 31376192 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Pathological aggregation of the transactive response DNA-binding protein of 43 kDa (TDP-43) is associated with several neurodegenerative disorders, including ALS, frontotemporal dementia, chronic traumatic encephalopathy, and Alzheimer's disease. 30814253 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE We found a higher frequency of pathological TDP-43 in AD (36-56%) and in DLB (53-60%) than previously reported. 19139911 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Taken together, the results of these studies extend the role of TDP-43 beyond the Amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD)/Alzheimer disease (AD) spectrum. 27193329 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Linear regression models assessed the association of TDP-43 with literacy after adjusting for demographics, and AD pathology. 31305319 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE The case is unusual and instructive because of the co-existence of frequent cortical and diencephalic amyloid plaques with extensive TDP-43-positive histopathology in the setting of early-onset dementia and because it demonstrates that a positive cortical amyloid imaging signal in a subject with dementia does not necessarily establish that Alzheimer's disease is the sole cause. 24927705 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Since 2006, when the protein was reported to be present in inclusions in the neurons and/or glial cells of a range of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration with ubiquitin-positive, tau- and alpha-synuclein-negative inclusions (FTLD-U) and Alzheimer's disease (AD), many reports on the medical aspects of TDP-43 have been published. 18929508 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Autopsy data revealed Alzheimer disease pathology as the most common pathologic diagnosis in lvPPA (76%), frontotemporal lobar degeneration-TDP-43 in svPPA (80%), and frontotemporal lobar degeneration-TDP-43/tau in nfvPPA (64%). 30255971 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE The present study examined concomitant pathological neuronal inclusions of TDP-43, hyperphosphorylated tau and α-synuclein protein in the anterior cingulate, hippocampus and entorhinal cortex in young (≤65 years at death) vs. elderly (≥80 years at death) cases with pathologically confirmed FTLD (n = 52) or Alzheimer's disease (AD) (n = 47). 29215728 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE These results suggest that caspase-cleaved TDP-43 is a major pathological finding in AD and may contribute to the neurodegeneration associated with this disease. 18634762 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Smoking, TBI, and phosphorylated TDP-43 are associated with A(+)AD in specific groups, respectively. 27911311 2017