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 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 GeneticVariation disease BEFREE Whereas wild-type UBQLN2 accumulates in intraneuronal deposits in several common age-related neurodegenerative diseases, mutations in the gene encoding this protein result in X-linked amyotrophic lateral sclerosis/frontotemporal dementia associated with TDP43 accumulation. 30333186 2018
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE We present the case that preventing the misfolding of TDP-43 and/or enhancing its clearance represents the most important target for effectively treating ALS and frontotemporal dementia. 25652699 2015
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		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: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 GeneticVariation disease BEFREE We interrogated pathological Alzheimer's disease (n = 247); other tauopathies (n = 95) including Pick's disease, corticobasal disease and progressive supranuclear palsy; the synucleinopathies (n = 164) including multiple system atrophy and Lewy body disease; the TDP-43 proteinopathies (n = 188) including frontotemporal lobar degeneration with TDP-43 inclusions and amyotrophic lateral sclerosis; and a minimal pathology group (n = 72). 29878075 2018
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Using an atomic force microscopy based biopanning protocol developed in our lab, we previously isolated 23 TDP-43 reactive antibody fragments with preference for human ALS brain tissue relative to frontotemporal dementia, a related neurodegeneration, and healthy samples from phage-displayed single chain antibody fragment (scFv) libraries. 28122516 2017
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 This breakthrough provides an opportunity to re-evaluate longstanding concepts regarding the cause and natural history of ALS, coming soon after the pathological unification of ALS with frontotemporal dementia through a shared pathological signature of cytoplasmic inclusions of the ubiquitinated protein TDP-43. 23415570 2013
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 GeneticVariation disease BEFREE These findings also document an association, in TDP43-proteinopathy patients, between heterogenous ribonucleoprotein pathology and RNA metabolism alterations and carry importance for neurodegenerative diseases, such as amyotrophic lateral sclerosis and frontotemporal dementia. 24462217 2014
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 There are no effective TDP-43-directed therapies for ALS or related TDP-43 proteinopathies, such as frontotemporal dementia. 28405022 2017
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 The scientific scenario of amyotrophic lateral sclerosis (ALS) has dramatically changed since TDP-43 aggregates were discovered in 2006 as the main component of the neuronal inclusions seen in the disease, and more recently, when the implication of C9ORF72 expansion in familial and sporadic cases of ALS and frontotemporal dementia was confirmed. 27236050 2016
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 The present study represents the first attempt to investigate the endocannabinoid system in an alternative model, the transgenic mouse model of TAR-DNA binding protein-43 (TDP-43), a protein related to ALS and also to frontotemporal dementia. 25819934 2015
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 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 The TAR DNA-binding protein (TDP-43) self-assembles into prion-like aggregates considered to be the structural hallmark of amyotrophic lateral sclerosis and frontotemporal dementia. 31782904 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 TDP-43 proteinopathy is a pathological hallmark of amyotrophic lateral sclerosis and frontotemporal dementia where cytoplasmic TDP-43 inclusions are observed within degenerating regions of patient postmortem tissue. 30826182 2019
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 PosttranslationalModification disease BEFREE Targeting TDP-43 phosphorylation by Casein Kinase-1δ inhibitors: a novel strategy for the treatment of frontotemporal dementia. 27138926 2016
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Recent evidence shows that TDP-43, a RNA-binding protein associated with frontotemporal dementia and amyotrophic lateral sclerosis, exists in a physiological and functional nuclear oligomeric form, whose destabilization may represent a prerequisite for misfolding, toxicity and subsequent pathological deposition. 29070802 2017
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 AlteredExpression disease BEFREE Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation. 24309270 2014
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 Pathology showed typical PD-type Lewy body disease (LBD) in most patients, whereas in others there was 'pure' nigral degeneration (one with TDP-43-positive inclusions), diffuse LBD, or tau-, alpha-synuclein- or ubiquitin-positive pathology reminiscent of progressive supranuclear gaze palsy, multisystem atrophy, and frontotemporal dementia with ubiquitin-positive inclusions. 20197701 2010