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 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 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 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 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 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 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 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 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 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 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 GeneticVariation disease BEFREE Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease. 19655382 2009
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.100 GeneticVariation disease BEFREE Frontotemporal lobar degeneration-associated pathologies segregated based on their cerebral atrophy profiles, according to the following scheme: asymmetric, relatively localized (predominantly temporal lobe) atrophy (TDP-43 type C); relatively symmetric, relatively localized (predominantly temporal lobe) atrophy (microtubule-associated protein tau mutations); strongly asymmetric, distributed atrophy (Pick's disease); relatively symmetric, predominantly extratemporal atrophy (corticobasal degeneration, fused-in-sarcoma pathology). 21908872 2011
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 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 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 Biomarker disease BEFREE TDP-43 and frontotemporal dementia. 19664364 2009