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 Transactivation response element (TAR) DNA-binding protein 43 (TDP-43) is the principal component of ubiquitinated inclusions characteristic of most forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia-frontotemporal lobar degeneration with TDP-43-positive inclusions (FTLD-TDP), as well as an increasing spectrum of other neurodegenerative diseases. 25503365 2014
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		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: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE There were no significant differences between clinical syndromes (PPA subtypes), the main clinical forms of dementia (frontotemporal dementia and AD), or the expected pathological groups (frontotemporal lobar degeneration-tau [FTLD-tau], FTLD-TDP43, and AD). 31640103 2019
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE The two major RNA Binding Proteins involved in Amyotrophic Lateral Sclerosisi and Frontotemporal Dementia are TDP-43 and FUST/TLS. 27015757 2016
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Frontotemporal dementia is a group of early onset dementia syndromes linked to underlying frontotemporal lobar degeneration (FTLD) pathology that can be classified based on the formation of abnormal protein aggregates involving tau and two RNA binding proteins, TDP-43 and FUS. 30355151 2019
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE FUS/TLS (fused in sarcoma/translocated in liposarcoma) and TDP-43 are integrally involved in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. 23023293 2012
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Most importantly, the expression of hnRNP A1/A2 and PTB/nPTB is significantly altered in patients with frontotemporal dementia with TDP-43-positive inclusions (FTLD-TDP), indicating that perturbations in RNA metabolism and processing in FTLD-TDP are not exclusively driven by a loss of TDP-43 function. 26614389 2016
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Needle biopsy in the left frontal cortex of 1 patient with FALS-frontotemporal dementia revealed numerous cytoplasmic TAR DNA-binding protein 43 (TDP-43) inclusions and minimal neuritis, consistent with type B frontotemporal lobar degeneration with TDP-43 (FTLD-TDP) pathology. 22673113 2012
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Frontotemporal dementia-associated protein "phosphorylated TDP-43" localizes to atherosclerotic lesions of human carotid and main cerebral arteries. 31259382 2020
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Inclusions of TDP-43 are hallmarks of frontotemporal dementia and amyotrophic lateral sclerosis. 19910924 2010
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 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
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE The human TAR DNA binding protein 43 (TDP-43), encoded by the gene TARDBP, plays a central role in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. 25442115 2015
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Factors associated with survival were studied in 84 neuropathologically documented cases of the pre-senile dementia frontotemporal dementia lobar degeneration (FTLD) with transactive response (TAR) DNA-binding protein of 43 kDa (TDP-43) proteinopathy (FTLD-TDP). 27543771 2016
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Insoluble, hyperubiquitylated TAR DNA binding protein of 43 kDa (TDP-43) in the central nervous system characterizes frontotemporal dementia and ALS in many individuals with these neurodegenerative diseases. 31780563 2020
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE TDP-43 is a multifunctional nucleic acid binding protein linked to several neurodegenerative diseases including Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia. 22792076 2012
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Numerous patient mutations in TARDBP, the gene encoding TDP-43, combined with data from animal and cell-based models, imply that altered RNA regulation by TDP-43 causes Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. 30357366 2019
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Aggregates of the RNA-binding protein TDP-43 (TAR DNA-binding protein) are a hallmark of the overlapping neurodegenerative disorders amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. 30824544 2019
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 GeneticVariation disease BEFREE TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. 19609911 2009
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. 18723524 2008
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE A common pathological hallmark of amyotrophic lateral sclerosis (ALS) and the related neurodegenerative disorder frontotemporal dementia, is the cellular mislocalization of transactive response DNA-binding protein 43 kDa (TDP-43). 31642482 2019
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Frontotemporal dementia, motor neuron disease, and frontotemporal dementia-motor neuron disease are characterised by overlapping patterns of TAR DNA binding protein (TDP-43) pathology, while the chromosome 9 open reading frame 72 (C9orf72) repeat expansion is common across the disease spectrum. 26987909 2016
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE TDP-43 (TAR DNA-binding protein of 43 kDa) is a major deposited protein in amyotrophic lateral sclerosis and frontotemporal dementia with ubiquitin. 23689371 2013
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 GeneticVariation disease BEFREE Endogenous progesterone levels and frontotemporal dementia: modulation of TDP-43 and Tau levels in vitro and treatment of the A315T TARDBP mouse model. 23798570 2013
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Mutations in the gene for TDP-43 protein, TARDBP, highlight this, with pathology mimicking closely that found in other types of ALS, and a phenotypic spectrum that includes frontotemporal dementia. 22903397 2012
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Mutations in 7 known genes (MAPT, GRN, C9orf72, VCP, CHMP2B, and, rarely, TARDBP and FUS) are associated with frontotemporal dementia, and the pathologic classification of frontotemporal lobar degeneration has recently been modified to reflect these discoveries. 24709683 2014