|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Among the polyQ diseases, SCA3 is the most common SCA, and second to HD in prevalence worldwide.
|
31669734 |
2020 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Nine neurodegenerative diseases are caused by expanded polyglutamine (polyQ) tracts in different proteins, such as huntingtin in Huntington's disease and ataxin 3 in spinocerebellar ataxia type 3 (SCA3).
|
28445460 |
2017 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Some drugs, which have been used as activators/inducers in the chaperone system, ubiquitin-proteasome system, and aggregation-autophagy, have been demonstrated to be efficacious in the relief of neurodegeneration diseases like Huntington's disease (HD), Parkinson's (PD), Alzheimer's (AD) as well as SCA3 in animal models and clinical trials, putting misfolded protein clearance on the list of potential therapeutic targets.
|
26123252 |
2015 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We further determined that the downregulation of TBP activity enhances retinal degeneration in SCA3 and Huntington's disease fly models, indicating that the deactivation of TBP is likely to play a common role in polyQ-induced neurodegeneration.
|
25104854 |
2014 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here, we describe a sensitive fluorescence-based method to observe, monitor, and quantify mild Drosophila eye degeneration caused by various proteins, including the polyglutamine disease proteins ataxin-3 (spinocerebellar ataxia type 3) and huntingtin (Huntington's disease), mutant α-synuclein (Parkinson's disease), and Aβ42 (Alzheimer's disease).
|
24798551 |
2014 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
To date, a total of nine polyQ disorders have been described: six spinocerebellar ataxias (SCA) types 1, 2, 6, 7, 17; Machado-Joseph disease (MJD/SCA3); Huntington's disease (HD); dentatorubral pallidoluysian atrophy (DRPLA); and spinal and bulbar muscular atrophy, X-linked 1 (SMAX1/SBMA).
|
24816443 |
2014 |
|
Huntington Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Agents that silence mutant HTT or ATX-3 expression would remove the cause of HD or MJD and provide an option for therapeutic development.
|
23887934 |
2013 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
A total of 184 individuals were eligible for presymptomatic testing due to a risk for spinocerebellar ataxia (SCA) - SCA3 (80%), Huntington's disease (11.9%), familial amyloidotic neuropathy (4.3%), SCA1, SCA2, SCA6, or SCA7.
|
21717286 |
2012 |
|
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Alternative splicing defects are also caused by translated CAG repeats in normal cells transfected with a mutant ATXN3 gene construct and in cells derived from spinocerebellar ataxia type 3 and Huntington's disease patients.
|
21795378 |
2011 |
|
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These include Machado-Joseph disease (MJD) and Huntington's disease (HD), which are caused by expanded CAG repeats within an allele of the ataxin-3 (ATXN3) and huntingtin (HTT) genes, respectively.
|
19412185 |
2009 |
|
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These include complex diseases like Alzheimer's disease and Parkinson's disease, and Mendelian diseases caused by polyglutamine expansion mutations [like Huntington's disease (HD) and various spinocerebellar ataxias (SCAs), like SCA3].
|
18665420 |
2008 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
In postmortem brain material of both Huntington disease and SCA3, E2-25K staining of polyglutamine aggregates was observed in a subset of neurons bearing intranuclear neuronal inclusions.
|
17092742 |
2007 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Persons at risk for FAP-I may show a better response to pre-symptomatic testing than those who are at risk for MJD and HD because of the availability of liver transplantation, which may improve their health and life expectancy.
|
16630162 |
2006 |
|
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autophagy is a key clearance pathway involved in the removal of such proteins, including mutant huntingtin (that causes Huntington's disease), mutant ataxin-3 (that causes spinocerebellar ataxia type 3), forms of tau that cause tauopathies, and forms of alpha-synuclein that cause familial Parkinson's disease.
|
16973207 |
2006 |
|
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the SCA1 CAG repeat length in a large sample of Huntington's disease (n=182), myotonic dystrophy type 1 (n=64) and SCA3 (n=31) patients.
|
15167689 |
2004 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, the transglutaminase activity has been hypothesized to be involved in the pathogenetic mechanisms responsible for the formation of cellular inclusions present in Huntington disease and in all the other polyglutamine (polyQ) diseases hitherto identified, such as spinobulbar muscular atrophy or Kennedy disease, spinocerebellar ataxias (SCA-1, SCA-2, SCA-3 or Machado-Joseph disease, SCA-6 and SCA-7) and dentatorubropallidoluysian atrophy.
|
11719247 |
2002 |
|
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We examined 10 individuals with SCA3, 10 with Huntington disease and 30 normal controls (31 controls for SCA3) using this method.
|
12007862 |
2002 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recent progress in the generation and characterization of transgenic mice expressing the genes containing expanded repeats associated with spinal and bulbar muscular atrophy (SBMA), spinocerebellar ataxia type 1 (SCA1), Machado-Joseph disease (MJD/SCA3), and Huntington's disease (HD) is beginning to provide insight into the underlying mechanisms of these neurodegenerative disorders.
|
9217978 |
1997 |
|
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fourth, the disease phenotype is significantly more severe and had an early age of onset (16 years) in a subject homozygous for the expanded allele, which contrasts with Huntington disease and suggests that the expanded allele in the MJD1 gene could exert its effect either by a dominant negative effect (putatively excluded in HD) or by a gain of function effect as proposed for HD.
|
8528200 |
1995 |