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 TDP43 nuclear export and neurodegeneration in models of amyotrophic lateral sclerosis and frontotemporal dementia. 29545601 2018
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 Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice. 31690696 2020
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) is a major protein component of pathological inclusions in amyotrophic lateral sclerosis and frontotemporal dementia. 30372676 2018
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 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 Finally, we showed that ER stress compounded TDP-43 depletion in the up-regulation of NMD isoforms that had been implicated in the pathogenic mechanisms of amyotrophic lateral sclerosis and frontotemporal dementia, and that the additive effect of ER stress was completely blocked by PERK deficiency. 27940503 2017
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 TDP-43 inclusions also characterize patients with GGGGCC (G4C2) hexanucleotide repeat expansion in C9orf72 that causes the most common genetic form of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). 30239641 2018
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE TDP-43 was recently identified as the major pathological protein in sporadic amyotrophic lateral sclerosis and in the most common pathological subtype of frontotemporal dementia, frontotemporal lobar degeneration with ubiquitinated inclusions. 18989115 2008
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 TDP-43 and frontotemporal dementia. 19664364 2009
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 GeneticVariation disease BEFREE Loss-of-function mutations in the Granulin (GRN) gene are causative of frontotemporal dementia with TAR DNA-binding protein-43 inclusions. 28304311 2017
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 Biomarker disease BEFREE Cerebrospinal Fluid TAR DNA-Binding Protein 43 Combined with Tau Proteins as a Candidate Biomarker for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Spectrum Disorders. 28848086 2017
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 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 Pathogenic TARDBP mutations in amyotrophic lateral sclerosis and frontotemporal dementia: disease-associated pathways. 21086759 2010
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 Oligomerisation of Aβ, tau, α-synuclein and TDP-43 leads to a toxin gain- or loss-of-function contributing to the phenotype observed in Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis and frontotemporal dementia. 29986938 2018
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 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 Fragments of the TAR DNA-binding protein 43 (TDP43) are major components of intracellular aggregates associated with amyotrophic lateral sclerosis and frontotemporal dementia. 29987190 2018
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 TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia. 18796596 2008