TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Motor Neuron Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE The concept that frontotemporal dementia (FTD) is a purely cortical dementia has largely been refuted by the recognition of its close association with motor neuron disease, and the identification of transactive response DNA-binding protein 43 (TDP-43) as a major pathological substrate underlying both diseases. 25557955 2015
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE Together, our results suggest a microtubule-dependent mechanism in motor neuron disease caused by TDP-43-dependent alterations in futsch mRNA localization and translation in vivo. 25429138 2014
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 GeneticVariation disease BEFREE However, to our knowledge, there is only 1 description of 2 patients with FTLD and TARDBP gene mutations who later developed motor neuron disease. 20697052 2010
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 GeneticVariation disease BEFREE It has been shown that mutation in FUS and TARDBP are associated with amyotrophic lateral sclerosis(ALS), a motor neuron disease by leading to neuronal cell death. 31017923 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE The identification of five ALS patients carrying TARDBP alterations extends the spectrum of TARDBP mutations and supports the pathological role of TDP-43 in motor neurone disease. 19236453 2009
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE A hexanucleotide repeat expansion in the first intron of C9ORF72 has been shown to be responsible for a high number of familial cases of amyotrophic lateral sclerosis or frontotemporal lobar degeneration with or without concomitant motor neuron disease phenotype and TDP-43 based pathology. 22571983 2012
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE Cases of Frontotemporal Lobar Degeneration (FTLD) and Motor Neurone Disease (MND) associated with expansions in C9ORF72 gene are characterised pathologically by the presence of TDP-43 negative, but p62 positive, inclusions in granule cells of the cerebellum and in cells of dentate gyrus and area CA4 of the hippocampus. 24252525 2013
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 GeneticVariation disease BEFREE Our study suggests that TARDBP mutations can be pathogenetic of bvFTD without motor neuron disease. 19655382 2009
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE Frontotemporal dementia (FTD) may be associated with motor neuron disease, and the transactive response DNA-binding protein 43 (TDP-43) is a major pathological substrate underlying both diseases. 28449882 2017
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 GeneticVariation disease BEFREE In motor neurone disease (MND), TDP-43 or FUS inclusions can present within motor neurons of the brain stem and spinal cord. 22878865 2012
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 GeneticVariation disease BEFREE We therefore investigated 33 patients with FTLD-tau (including 9 with MAPT mutation) for TDP-43 pathological changes, and 45 patients with FTLD-TDP (including 12 with hexanucleotide expansion in C9ORF72 and 12 with GRN mutation), and 23 patients with motor neurone disease (3 with hexanucleotide expansion in C9ORF72), for tauopathy. 24861427 2014
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 GeneticVariation disease BEFREE Advances in genetics and pathology have supported the idea of a continuum between frontotemporal dementia (FTD) and motor neurone disease (MND), which is strengthened by the discovery of the trans-activating responsive (Tar) sequence DNA binding protein (TDP-43) as a key component in the underlying pathology of FTD, FTD-MND and sporadic and familial MND patients. 19556136 2009
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE TDP-43 accumulates in nerve cells of nearly all cases of amyotrophic lateral sclerosis (ALS; the commonest form of motor neuron disease) and in the majority of Tau-negative frontotemporal lobar degeneration (FTLD). 29460270 2018
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE The transactive response (TAR) DNA binding protein 43 (TDP-43) has been recently implicated as a major component of ubiquitinated inclusions in amyotrophic lateral sclerosis (ALS, motor neuron disease: MND) and ALS-related disorders. 19496940 2009
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE The presence of TDP-43 within inclusions and its new diagnostic role in MND are discussed. 21233670 2011
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE The discovery of a missense mutation in TDP-43 in a family with dominantly inherited motor neuron disease provides evidence of a direct link between altered TDP-43 function and neurodegeneration. 18288693 2008
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE TAR DNA-binding protein 43 (TDP-43) has been identified as the major ubiquitinated aggregates in the inclusion bodies in the patients of amyotrophic lateral sclerosis (ALS) since 2006 and become a crucial culprit for ALS and related motor neuron diseases. 20055380 2010
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE TDP-43 aggregation occurs in both familial and sporadic MND; however, the mechanism of endogenous TDP-43 aggregation in disease is incompletely understood. 31280399 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE TAR DNA-binding protein of 43 kDa (TDP-43) is a major component of the pathological inclusions of frontotemporal lobar degeneration with TDP-43 proteinopathy, also called FTLD with ubiquitin-positive, tau-negative inclusions (FTLD-U), and motor neuron disease (MND). 18974920 2008
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE RNA-binding proteins, and in particular TAR DNA-binding protein 43 (TDP43), are central to the pathogenesis of motor neuron diseases and related neurodegenerative disorders. 22127299 2011
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE Additionally, neuronal HuR deficiency resulted in the redistribution of TDP43 to cytosolic granules, which has been linked to motor neuron disease. 29760195 2018
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE A neuro-pathological examination was performed on 7 patients, and it confirmed the presence of MND with TDP43 protein aggregates in all patients. 29886477 2018
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 PosttranslationalModification disease BEFREE Our findings thus link TDP-43 pathology to impaired DSB repair and persistent DDR signaling in motor neuron disease, and suggest that DSB repair-targeted therapies may ameliorate TDP-43 toxicity-induced genome instability in motor neuron disease. 30770445 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE Akin to frontotemporal lobar degeneration with TDP-43 inclusions, in some individuals with CTE, the TDP-43 proteinopathy extends to involve the spinal cord and is associated with motor neuron disease. 20720505 2010
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE TIGAR protein was also absent in both TDP-43-positive inclusions in MND and glial cytoplasmic inclusions in MSA. 30267647 2019