TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Pick Disease of the Brain ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE TAR DNA binding protein 43 (TDP-43) has been considered a signature protein in frontotemporal dementia and amyotrophic lateral sclerosis (ALS), but not in ALS associated with the superoxide dismutase 1 (SOD1) gene mutations (ALS1). 19104447 2009
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE While cytoplasmic aggregation of TDP-43 is a pathological hallmark of amyotrophic lateral sclerosis and frontotemporal dementia, how aggregates form and what drives its nuclear clearance have not been determined. 30853299 2019
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		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: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Accumulation of TDP-43 in the cytoplasm of diseased neurons is the pathological hallmark of frontotemporal dementia-TDP (FTLD-TDP) and amyotrophic lateral sclerosis (ALS), two diseases that lack efficacious medicine to prevent or to stop disease progression. 30785719 2019
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE The RNA-binding protein TDP-43, associated to amyotrophic lateral sclerosis and frontotemporal dementia, regulates the alternative splicing of several genes, including the skipping of TNIK exon 15. 31382054 2019
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching. 19781077 2009
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Here we constructed a conditional TDP-43 mouse with depletion of TDP-43 in the mouse forebrain and find that the mice exhibit a whole spectrum of age-dependent frontotemporal dementia-like behaviour abnormalities including perturbation of social behaviour, development of dementia-like behaviour, changes of activities of daily living, and memory loss at a later stage of life. 30922385 2019
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE The TAR DNA-binding protein-43 (TDP-43) has been identified as a major constituent of inclusions found in frontotemporal dementia with ubiquitin-positive inclusions (FTLD-U) and amyotrophic lateral sclerosis (ALS). 18634762 2008
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. 24686783 2014
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 GeneticVariation disease BEFREE Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations. 25408367 2015
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE TDP-43 is a primarily nuclear RNA-binding protein, whose abnormal phosphorylation and cytoplasmic aggregation characterizes affected neurons in patients with amyotrophic lateral sclerosis and frontotemporal dementia. 28663553 2017
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE <sup>18</sup>F-Flortaucipir in TDP-43 associated frontotemporal dementia. 30988363 2019
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE No association of TDP-43 with sporadic frontotemporal dementia. 17614162 2009
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 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
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 GeneticVariation disease BEFREE TARDBP mutation screening should be considered in familial frontotemporal dementia cases, even without signs or symptoms of motor neuron disease, especially when other more frequent causes of genetic frontotemporal dementia (i.e. 25853458 2015
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. 17279000 2007
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 GeneticVariation disease BEFREE Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia. 22892647 2015
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Abnormal neuronal accumulation and modification of TAR DNA binding protein 43 (TDP-43) have recently been discovered to be defining histopathological features of particular subtypes of frontotemporal dementia and amyotrophic lateral sclerosis, and are also common in aging, particularly coexisting with hippocampal sclerosis and Alzheimer's disease pathology. 24927705 2014
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Genetic mutations in RNA-binding proteins FUS and TDP-43 have been linked with causing neurodegenerative diseases: amyotrophic lateral sclerosis and frontotemporal dementia. 26047658 2015
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Phase-separated compartments can concentrate specific RNA-binding proteins (RBPs), such as TDP-43 and fused in sarcoma (FUS), that through low-complexity, prion-like domains have an intrinsic tendency to form self-templating fibrils that are closely tied to fatal neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. 30948513 2019
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE The full definition of the physiological RNA targets regulated by TDP-43 and FUS RNA-binding proteins (RBPs) represents an important issue in understanding the pathogenic mechanisms associated to these two proteins in amyotrophic lateral sclerosis and frontotemporal dementia. 26514432 2015
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE In Frontotemporal dementia and Amyotrophic lateral sclerosis the lncRNAs NEAT1_2 and MALAT1 co-localize at nuclear paraspeckles with TDP-43 and FUS proteins and their binding to TDP-43 is markedly increased in affected brains. 27338628 2016
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 GeneticVariation disease BEFREE Mutations in TDP-43 are associated with proteinaceous inclusions in neurons and are believed to be causative in neurodegenerative diseases such as frontotemporal dementia or amyotrophic lateral sclerosis. 28686708 2017
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 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
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE TAR DNA-binding protein of 43 kDa (TDP-43) forms pathological aggregates in neurodegenerative diseases, particularly in certain forms of frontotemporal dementia and amyotrophic lateral sclerosis. 30120199 2018