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: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE Limbic-predominant age-related TAR-DNA-binding protein-43 (TDP-43) encephalopathy with hippocampal sclerosis pathology (LATE-NC + HS) is a neurodegenerative disorder characterized by severe hippocampal CA1 neuron loss and TDP-43-pathology, leading to cognitive dysfunction and dementia. 31376286 2020
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE TAR DNA-binding protein 43 (TDP-43) proteinopathy has increasingly been implicated as a prominent histopathological feature of AD and related dementias. 31678156 2020
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE This experiment investigated morphological subtypes of pre-inclusions and their relationship with TDP-43 inclusions in primary progressive aphasia (PPA), a dementia characterized by gradual dissolution of language. 30753613 2019
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE Phosphorylated tau and TDP-43 are important markers of pathology in dementia disorders and directly contribute to tau- and TDP-43-related neurotoxicity and neurodegeneration. 31034749 2019
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE Over the past decade, the transactive response DNA-binding protein of 43 kDa (TDP-43) has been recognized as a major protein in normal and pathological ageing, increasing the risk of cognitive impairment and dementia. 31562527 2019
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE Transactive Response DNA-Binding Protein of 43 kDa (TDP-43) is an essential human protein implicated in Amyotrophic Lateral Sclerosis (ALS) and common dementias. 31568752 2019
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE The intrinsically disordered C-terminal domain of TAR DNA-binding protein 43 (TDP-43), a protein involved in motor neuron disease and dementia lacks a dominant LLPS motif, however, and how this domain forms condensates is unclear. 29511089 2018
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE TDP-43 and Alzheimer's Disease Pathologic Subtype in Non-Amnestic Alzheimer's Disease Dementia. 30010126 2018
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE The importance of the pathways varied, with the vascular pathway accounting for 32% of the association between age and dementia, wheraes the remaining three inter-related degenerative pathways together accounted for 68% (amyloid/tau, 24%; the Lewy body, 1%; and TDP-43/hippocampal sclerosis, 43%). 29944741 2018
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE Critically, TDP-43 autoregulation is perturbed, leading to a gain of TDP-43 function and altered splicing of Mapt, another pivotal dementia-associated gene. 29556029 2018
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE The pooled odds ratio (OR) for TBI on development of dementia, FTD and TDP-43 associated disease were 1.93 (95% CI 1.47-2.55, p < 0.001), 4.44 (95% CI 3.86-5.10, p < 0.001), and 2.97 (95% CI 1.35-6.53, p < 0.001). 30396335 2018
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE Dementia (p < 0.001) and TDP-43 immunopositivity of the granular cell layer of the dentate fascia (p < 0.001) were strongly associated with HS. 29614661 2018
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE The GRN-related form of frontotemporal lobar dementia is a proteinopathy characterized by the appearance of neuronal inclusions containing ubiquitinated and fragmented TDP-43 (encoded by TARDBP). 29053785 2017
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE Perturbation of these remarkable liquid phases can lead to aggregates, such as those formed by the proteins TDP-43 and FUS, which are linked to ALS and other dementia. 28176659 2017
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE The multiple roles played by RNA binding proteins in neurodegeneration have become apparent following the discovery of TAR DNA binding protein 43 kDa (TDP-43) and fused in sarcoma/translocated in liposarcoma (FUS/TLS) involvement in amyotrophic lateral sclerosis and frontotemporal lobar dementia. 27015757 2016
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE We screened 37 AD, 8 mild cognitive impairment (MCI), 3 AD and CVD (cerebrovascular disease), 3 MCI and CVD, 8 frontotemporal dementia (FTD) and 2 progressive supranuclear palsy (PSP) patients, and 28 normal controls (NCs).We sequenced PSEN1, PSEN2 and APP (EOAD risk factors), as well as MAPT, GRN and TARDBP for all cases and NCs, and analysed the APOE, CLU, CR1 and PICALM genotypes as well as the MAPT and ACE haplotypes (LOAD risk factors) for the AD (n = 37) and AD + MCI (n = 45) cases and NCs (n = 28).We identified variants in PSEN1, PSEN2 and TARDBP across a range of phenotypes (AD, AD and CVD, FTD and PSP), suggesting that screening of all known candidate genes of Alzheimer's and non-Alzheimer's forms of dementias in all dementia cases might be warranted. 26159191 2015
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE Full-length TDP-43 forms toxic amyloid oligomers that are present in frontotemporal lobar dementia-TDP patients. 25215604 2014
CUI: C0497327
Disease: Dementia
Dementia
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: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE Therefore the C9orf72 hexanucleotide repeat expansion appears to be specific to TDP-43 driven amyotrophic lateral sclerosis and dementia. 23084342 2013
CUI: C0497327
Disease: Dementia
Dementia
0.100 GeneticVariation disease BEFREE The DNA/RNA binding proteins TAR DNA-binding protein 43 (TDP-43) and fused-in-sarcoma (FUS) are genetically linked to amyotrophic lateral sclerosis and frontotemporal lobar dementia, while the inappropriate cytoplasmic accumulations of TDP-43 and FUS are observed in a growing number of late-onset pathologies including spinocerebellar ataxia 3, Alzheimer's and Huntington's diseases (HD). 23172908 2013
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE The DNA/RNA-binding proteins TDP-43 and FUS are found in protein aggregates in a growing number of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and related dementia, but little is known about the neurotoxic mechanisms. 22848727 2012
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE Pathological neuronal inclusions of the 43-kDa TAR DNA-binding protein (TDP-43) are implicated in dementia and motor neuron disorders; however, the molecular mechanisms of the underlying cell loss remain poorly understood. 21471218 2011
CUI: C0497327
Disease: Dementia
Dementia
0.100 GeneticVariation disease BEFREE Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations. 20697052 2010
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE Intracellular accumulation of TDP-43 is observed in a subpopulation of patients with other dementia disorders, including Alzheimer's disease (AD) and dementia with Lewy bodies (DLB). 19139911 2009
CUI: C0497327
Disease: Dementia
Dementia
0.100 Biomarker disease BEFREE A recent paper reported that the TAR-DNA binding protein (TDP-43) is the disease protein in amyotrophic lateral sclerosis and frontotemporal lobar dementia with ubiquitin-positive inclusions. 19851068 2009