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 		0.300 Biomarker disease BEFREE Focusing on the striatum, we determined that the transcriptional dysregulation associated with HD was partially exacerbated in mice that showed poor overall phenotypical scores, especially in genes with relevant roles in striatal functioning (e.g., Pde10a, Drd1, Drd2, Ppp1r1b). 31822756 2019
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.300 PosttranslationalModification disease BEFREE CTIP2-Regulated Reduction in PKA-Dependent DARPP32 Phosphorylation in Human Medium Spiny Neurons: Implications for Huntington Disease. 31447328 2019
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.300 Biomarker disease BEFREE A double huntingtin/DARPP-32 (dopamine- and cAMP-regulated phosphoprotein 32) knock-in mutant mouse was generated to analyze the role of DARPP-32 in HD depression. 31060804 2019
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.300 AlteredExpression disease BEFREE Moreover, LOC14 preserved medium spiny neuronal marker dopamine- and cyclic-AMP-regulated phosphoprotein of molecular weight 32 000 (DARPP32) levels in the striatum of HD mice. 29462355 2018
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.300 Biomarker disease BEFREE Also, counts of Hoechst-labeled cells revealed that a higher proportion were co-labeled with DARPP-32 and NeuN in HD-, compared to WT- mice, suggesting a dissimilar differentiation pattern in HD mice. 29209158 2017
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.300 Biomarker disease BEFREE When HD NPCs were further differentiated into DARPP32-positive neurons, these HD neurons were more susceptible to death than WT neurons and formed Htt aggregates under the condition of oxidative stress. 28973411 2017
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.300 Biomarker disease BEFREE DNP at a low dose (1mg/kg/day) significantly improved motor function and preserved medium spiny neuronal marker DARPP32 and postsynaptic protein PSD95 in the striatum of HD mice. 28359739 2017
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.300 Biomarker disease BEFREE Finally, we discuss cell culture and engineering systems that promote the directed differentiation of pluripotent stem cell-derived NSCs into a striatal DARPP32(+) GABAergic MSN phenotype for HD. 24827816 2014
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.300 Biomarker disease BEFREE Ingenuity pathway analysis (IPA) of genotype-specific DhMR-annotated genes revealed that alternation of a number of canonical pathways involving neuronal development/differentiation (Wnt/β-catenin/Sox pathway, axonal guidance signaling pathway) and neuronal function/survival (glutamate receptor/calcium/CREB, GABA receptor signaling, dopamine-DARPP32 feedback pathway, etc.) could be important for the onset of HD. 23669348 2013
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.300 AlteredExpression disease BEFREE Ligand-induced TrkB activation was associated with a reduction in HD pathologies in the striatum including decreased DARPP-32 levels, neurite degeneration of parvalbumin-containing interneurons, inflammation, and intranuclear huntingtin aggregates. 24285878 2013
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.300 Biomarker disease BEFREE We report that human induced pluripotent stem cells (iPSCs) derived from HD patient fibroblasts can be corrected by the replacement of the expanded CAG repeat with a normal repeat using homologous recombination, and that the correction persists in iPSC differentiation into DARPP-32-positive neurons in vitro and in vivo. 22748967 2012
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.300 Biomarker disease BEFREE As DARPP-32 GABAergic output neurons are predominately lost in HD, STROC05 cells were also pre-differentiated using purmorphamine, a hedgehog agonist, to yield a greater number of DARPP-32 cells. 22876937 2012
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.300 Biomarker disease RGD As DARPP32(+) MSNs expressed both alpha- and beta-estrogen receptors and showed a correlation between cell numbers and 17beta-estradiol levels, our findings suggest sex-related differences in the HD phenotype pointing to a substantial neuroprotective effect of sex hormones and opening new perspectives on the therapy of HD. 18502785 2008
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.300 Biomarker disease BEFREE Non-enriched HD mice also exhibit deficits in dopamine and cAMP-regulated phosphoprotein (32 kDa) in striatum and anterior cortex. 14999077 2004