TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Central neuroblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 AlteredExpression disease BEFREE Lastly, we demonstrated that HSC70 silencing directly increases TDP-43 protein levels in human neuroblastoma cells. 31663379 2020
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 Biomarker disease BEFREE Here we show that the internalization of human pre-formed TDP-43 aggregates in the murine neuroblastoma N2a cells promptly resulted in their ubiquitination and hyperphosphorylation by endogenous machineries, mimicking the post-translational modifications observed in patients. 31357627 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 GeneticVariation disease BEFREE Similar suppression of TDP-43 provoked the downregulation of GAD67, the Gad1 homolog protein in human neuroblastoma cell lines and analogous modifications were observed in iPSC-derived motoneurons from patients carrying mutations in TDP-43, uncovering conserved pathological mechanisms behind the disease. 29379112 2018
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 Biomarker disease BEFREE Here, we knocked down TDP-43 in murine neuroblastoma Neuro2A cells and found a time lag between efficient TDP-43 depletion and appearance of cell death, suggesting that several mechanisms mediate between these two events. 29125873 2017
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 Biomarker disease BEFREE Ribosomal loss of RACK1, which excludes TDP-43 from the translational machinery, remarkably reduces formation of TDP-43 cytoplasmic inclusions in neuroblastoma cells. 28158562 2017
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 AlteredExpression disease BEFREE Importantly, we found TDP43 expression was required for TRIM16-induced inhibition of neuroblastoma and breast cancer cell growth and the repressive effect of TRIM16 on cell cycle regulatory proteins, E2F1 and pRb. 26902425 2016
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 AlteredExpression disease BEFREE We also focus on in vitro models comprised of cultured SH-SY5Y neuroblastoma cells expressing mutant forms of transactive response DNA binding protein 43 kDa (TDP-43) and showing a reduced number of TDP-43 inclusion-containing cells upon Dimebon treatment along with activation of autophagy markers. 26123670 2015
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 GeneticVariation disease BEFREE In the current study, we analyzed protein turnover and subcellular distribution of wild-type TDP-43 and two disease-associated mutants (G298S and A382T) in human neuroblastoma SH-SY5Y cells stably expressing TDP-43 with a C-terminal tag. 24477737 2014
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 AlteredExpression disease BEFREE In the human neuroblastoma SK-N-MC cell line, exogenous PROG (9300-93,000 pg/ml) had a significant effect on overall Tau and nuclear TDP-43 levels, reducing total Tau levels by ∼1.5-fold and increasing nuclear TDP-43 by 1.7- to 2.0-fold. 23798570 2013
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 Biomarker disease BEFREE SOD1 misfolding and oxidation was also detected using immunocytochemistry and quantitative immunoprecipitation of human neuroblastoma SH-SY5Y cells as well as cultured murine spinal neural cells transgenic for human wtSOD1, which were transiently transfected with human cytosolic mutant FUS or TDP43, or wtTDP43. 22493728 2012
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 Biomarker disease BEFREE To this end, we have firstly identified RNA targets of TDP-43 using UV-Cross-Linking and Immunoprecipitation (UV-CLIP) of SHSY5Y cells, a human neuroblastoma cell line. 21421050 2011