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 GeneticVariation disease BEFREE The laterodorsal nucleus was also particularly affected in genetic cases (28-38%), TDP-43 type A (47%), tau-CBD (44%), and FTD-MND (53%). 31696638 2020
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 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 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 TIGAR protein was also absent in both TDP-43-positive inclusions in MND and glial cytoplasmic inclusions in MSA. 30267647 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE TAR DNA-binding protein 43 (TDP-43) aggregation is the most common pathological hallmark in frontotemporal dementia (FTD) and characterizes nearly all patients with motor neuron disease (MND). 30511086 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE Hyper-phosphorylated and ubiquitinated TDP-43 deposits act as inclusion bodies in the brain and spinal cord of patients with the motor neuron diseases: amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). 30837838 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 GeneticVariation disease BEFREE We describe a case of svPPA associated with MND in the same family, due to a mutation of the transactive response DNA binding protein (TARDBP) gene, and review the literature. 30773994 2019
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 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 Biomarker disease BEFREE The intrinsically disordered C-terminal domain of TAR DNA-binding protein 43 (TDP-43), a protein involved in motor neuron disease and dementia lacks a dominant LLPS motif, however, and how this domain forms condensates is unclear. 29511089 2018
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 CausalMutation disease CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114 2017
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE We revealed that motor-neuron disease (MND)-linked RNA-binding proteins (RBPs), TDP-43, FUS, and hnRNPA2B1, bind to and induce structural alteration of UGGAA<sub>exp</sub>. 28343865 2017
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE TDP-43 inclusions in amygdala could be seen in 10 out of 26 sFTLD/MND cases, 5 out of 9 FTLD/MND-C9 cases, and all 4 FTLD-GRN cases. 28859337 2017
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE All patients with bvFTD + MND or MND showed plentiful p62/TDP-43 positive inclusions in remaining anterior horn cells. 26538301 2016
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE Defining a cellular signature of aggregated TDP-43 common to nearly all MND and a large proportion of frontotemporal dementia (FTD), has placed MND alongside more traditional cerebral neurodegeneration. 27956443 2016
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 GeneticVariation disease BEFREE Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND), and >95% of familial and sporadic cases involve the deposition of insoluble aggregated, phosphorylated and cleaved TDP-43 protein. 27590623 2016
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 GeneticVariation disease BEFREE A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques. 25853458 2015
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 GeneticVariation disease BEFREE Tau (affected by progressive supranuclear palsy or carriers of mutations within the MAPT gene) or TDP-43 (carriers of mutations within granulin, C9orf72, TARDBP genes or affected by FTD with motor neuron disease). 25352065 2015
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.200 Biomarker disease BEFREE Frontotemporal lobar degeneration (FTLD) and motor neurone disease are linked by the possession of a hexanucleotide repeat expansion in C9ORF72, and both show neuronal cytoplasmic inclusions within cerebellar and hippocampal neurones which are TDP-43 negative but immunoreactive for p62 and dipeptide repeat proteins (DPR), these being generated by a non-ATG RAN translation of the expanded region of the gene. 25185840 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 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