|
Machado-Joseph Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 3, or Machado-Joseph disease (SCA3/MJD), is caused by an expansion of CAG repeats, which is inversely correlated to age at onset (AO) of symptoms.
|
31587151 |
2020 |
|
Machado-Joseph Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Druggable genome screen identifies new regulators of the abundance and toxicity of ATXN3, the Spinocerebellar Ataxia type 3 disease protein.
|
31783119 |
2020 |
|
Machado-Joseph Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
The Machado-Joseph disease deubiquitylase ataxin-3 interacts with LC3C/GABARAP and promotes autophagy.
|
31625269 |
2020 |
|
Machado-Joseph Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our findings indicate that alternative splicing and interactions between different ataxin-3 isoforms affect not only major aspects of ataxin-3 function but also MJD pathogenesis.
|
30455355 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Control mice carried a healthy wild-type ATXN3 allele that had a polyglutamine tract with 15 CAG repeats (15Q), whereas SCA3 transgenic mice possessed an allele with a pathological polyglutamine tract with expanded 84 CAG (84Q) repeats.
|
29725949 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia 3, also known as Machado-Joseph disease (SCA3/MJD), is a rare autosomal-dominant neurodegenerative disease caused by an abnormal expansion of CAG repeats in the <i>ATXN3</i> gene.
|
31316347 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Alongside with the emergent clinical trials for Machado-Joseph disease/Spinocerebellar ataxia type 3 (MJD/SCA3) comes the need to identify molecular biomarkers of disease that can be tracked throughout the trial.
|
31286408 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
<b>Background:</b> Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is one of the nine polyglutamine (polyQ) diseases and is caused by a CAG repeat expansion within the coding sequence of the <i>ATXN3</i> gene.
|
31616370 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Furthermore, in both a SCA3 patient cell line and the MJD84.2 mouse model, (CUG)7 induced formation of a truncated Ataxin-3 protein species lacking the polyglutamine stretch, likely arising from (CUG)7-mediated exon 10 skipping.
|
31394429 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
In spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the length of CAG repeat expansions in ATXN3 shows an inverse correlation with age at onset (AO).
|
30125433 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD) has a prominent prevalence in China.
|
31249598 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
According to our results, although both full-length, pathogenic ataxin-3 isoforms are toxic, isoform 1 is likely the primary contributor to SCA3 due to its presence at higher levels.
|
31310802 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
To perform a systematic review and meta-analysis of genetic risk factors for age at onset (AO) in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD).
|
30337442 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Previously, we demonstrated that symptoms of SCA3 are reversible in the first conditional mouse model for SCA3 directing ataxin-3 predominantly to the hindbrain.
|
30576445 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
We believe that this study provides a proof of principle for addressing the mechanism of DVS and furthers our understanding of the role of importins in the nuclear accumulation of ataxin-3 in SCA3.
|
31107713 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 3 (SCA3/MJD) is a polyQ neurodegenerative disease where the presymptomatic phase of pathogenesis is unknown.
|
31201651 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, our group reported that reducing the expression levels of mutant Atx3 lead to a mitigation of several MJD-related behavior and neuropathological abnormalities.
|
30219871 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant disorder that is caused by the abnormal amplification of cytosine-adenine-guanine (CAG) trinucleotide repeats in the ATXN3 gene.
|
31639609 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Machado-Joseph disease (MJD/SCA3), the most frequent dominant ataxia worldwide, was used as an example of a detailed procedure.
|
30804982 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The extract, containing sinapine and other phenolics, restored motor function of mutant ataxin-3 (ATXN3) animals (MJD) and prevented degeneration of dopaminergic neurons in one toxin-induced and two genetic models of PD.
|
31680826 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Referred to as SCA3-hESC, this line is heterozygous for the mutant polyglutamine-encoding CAG repeat expansion in the ATXN3 gene.
|
31374463 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
However, it has previously been shown that specific silencing of mutant ataxin-3 by RNA interference with viral vectors is a promising therapeutic strategy for MJD.
|
30760052 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
We sought to confirm the efficacy of citalopram to decrease ATXN3 aggregation in an unrelated mouse model of Machado-Joseph disease.
|
30187384 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
To unravel SCA3 pathology, we used adeno-associated virus serotype 9 (AAV9) vectors to express full-length ATXN3 with an abnormally expanded 89 polyglutamine stretch (ATXN3[Q89]) in cerebellar neurons of mature wild-type mice.
|
30343032 |
2019 |
|
Machado-Joseph Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor.
|
31189928 |
2019 |