HTT, huntingtin, 3064

N. diseases: 188; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 GeneticVariation disease BEFREE Using the flow cytometry method of pulse-shape analysis (PulSA) to sort neuroblastoma (Neuro2a) cells enriched with mutant or wild-type Htt into different aggregation states, we clarified which transcriptional signatures were specifically attributable to cells before versus after inclusion assembly. 28743452 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 Biomarker disease BEFREE In this study, we performed a comprehensive, unbiased analysis of secretory pathways and identified an unconventional lysosomal pathway as an important mechanism for mHtt secretion in mouse neuroblastoma and striatal cell lines, as well as in primary neurons. mHtt secretion was dependent on synaptotagmin 7, a regulator of lysosomal secretion, and inhibited by chemical ablation of late endosomes/lysosomes, suggesting a lysosomal secretory pattern. mHtt was targeted preferentially to the late endosomes/lysosomes compared with wild-type Htt. 28821645 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 Biomarker disease BEFREE Dopamine exacerbates mutant Huntingtin toxicity via oxidative-mediated inhibition of autophagy in SH-SY5Y neuroblastoma cells: Beneficial effects of anti-oxidant therapeutics. 27840125 2016
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 AlteredExpression disease BEFREE Up to 70% of the diffusely distributed huntingtin molecules appeared as submicroscopic oligomers in individual neuroblastoma cells expressing mutant huntingtin. 20416508 2010
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 Biomarker disease BEFREE In human neuroblastoma cells and clonal striatal cells established from HdhQ7 (wild-type) and HdhQ111 (mutant) homozygote mouse knock-in embryos, huntingtin was present in a purified mitochondrial fraction. 15163634 2004
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 GeneticVariation disease BEFREE Human neuroblastoma SH-SY5Y cell lines stably expressing mutant truncated huntingtin with 82 (mutant) glutamine repeats (N63-82Q) were briefly exposed to hyperosmotic conditions which decrease cell volume and therefore transiently increased the concentration of N63-82Q, as well as activating specific stress-induced pathways. 12499864 2002
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 Biomarker disease BEFREE To examine the interactions between tTG and huntingtin human neuroblastoma SH-SY5Y cells were stably transfected with full-length huntingtin containing 23 (FL-Q23) (wild type) or 82 (FL-Q82) (mutant) glutamine repeats or a truncated N-terminal huntingtin construct containing 23 (Q23) (wild type) or 62 (Q62) (mutant) glutamine repeats. 11442349 2001
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 Biomarker disease BEFREE The antibodies were used in immunofluorescence experiments to study the subcellular localization of huntingtin in mouse neuroblastoma NIE-115 cells. 10434306 1999
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 AlteredExpression disease BEFREE To gain insight into the pathogenic mechanisms of Huntington's disease (HD), we have developed a stable cellular model, using a neuroblastoma cell line in which the expression of full-length or truncated forms of wild-type and mutant huntingtin can be induced. 9700187 1998
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 Biomarker disease BEFREE In mouse embryonic fibroblasts, human skin fibroblasts and in mouse neuroblastoma cells huntingtin was present in the cytoplasm. 8842726 1996
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 Biomarker disease BEFREE Antisera generated against three separate regions of huntingtin identified a single high molecular weight protein of approximately 320 kDa on immunoblots of human neuroblastoma extracts. 7748555 1995