TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Huntington Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 Biomarker disease BEFREE Previous studies have suggested the coexistence of phosphorylated-Tau, α-synuclein (α-Syn) and TAR DNA-binding protein 43 (TDP-43) inclusions in HD. 29134321 2018
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 Biomarker disease LHGDN In all Huntington disease cases studied, TDP-43 was frequently colocalized with huntingtin in dystrophic neurites and various intracellular inclusions, but not in intranuclear inclusions; the latter were only stained with huntingtin and anti-ubiquitin antibodies. 19018245 2008
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 Biomarker disease BEFREE Here, we analyzed the occurrence of TDP-43 immunostaining in Huntington disease, which is characterized by inclusions containing mutated huntingtin. 19018245 2008
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 Biomarker disease BEFREE Moreover, we find that functional MVBs are required for clearance of TDP-43 (identified as the major ubiquitinated protein in ALS and frontotemporal lobar degeneration with ubiquitin deposits), and of expanded polyglutamine aggregates associated with Huntington's disease. 17984323 2007