TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.100 Biomarker group BEFREE Phosphorylated TDP-43 Staging of Primary Age-Related Tauopathy. 30382507 2019
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.100 Biomarker group BEFREE Pathologically, FTLD presents with tauopathy or TAR DNA-binding protein 43 (TDP-43) proteinopathy. 29807909 2018
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.100 Biomarker group 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: C0949664
Disease: Tauopathies
Tauopathies
0.100 Biomarker group BEFREE Microglial and Neuronal TDP-43 Pathology in Anti-IgLON5-Related Tauopathy. 28550263 2017
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.100 Biomarker group BEFREE Transactive response DNA-binding protein 43 (TDP-43) regulates alternative splicing of tau exon 10: Implications for the pathogenesis of tauopathies. 28487370 2017
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.100 Biomarker group BEFREE Our data suggest that TDP-43 could be a putative target for therapeutic intervention in AD affecting both Aβ plaque formation and tauopathy. 28416393 2017
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.100 Biomarker group BEFREE In this prion-centric view, FTD can be divided into three subtypes, TDP-43 or FUS proteinopathy and tauopathy. 27502124 2016
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.100 GeneticVariation group 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: C0949664
Disease: Tauopathies
Tauopathies
0.100 Biomarker group BEFREE We performed immunohistochemical staining to clarify the localization of SIGMAR1 in the brains of patients with neurodegenerative disorders, including trans-activation response DNA protein 43 (TDP-43) proteinopathy, tauopathy, α-synucleinopathy, polyglutamine disease and intranuclear inclusion body disease (INIBD). 24313828 2014
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.100 Biomarker group BEFREE These data demonstrate that the neurodegenerative cascade associated with a primary tauopathy in tau transgenic mice can also promote TDP-43 abnormalities. 23666556 2013
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.100 Biomarker group BEFREE Biofluid studies identify about 15% of patients with FTLD due to a genetic mutation that is associated with the specific histopathologic features of TDP-43 or a tauopathy. 21833654 2011
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.100 Biomarker group BEFREE Biofluid studies identify about 15% of patients with FTLD due to a genetic mutation that is associated with the specific histopathologic features of TDP-43 or a tauopathy. 20881489 2010
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.100 GeneticVariation group BEFREE Many of the familial FTLDs are linked to chromosome 17, including both the familial tauopathies and the familial TAR DNA-binding protein-43 proteinopathies with progranulin mutations. 18596549 2008