Spinocerebellar Ataxia Type 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 7 (SCA7) is a retinal-cerebellar degenerative disorder caused by CAG-polyglutamine (polyQ) repeat expansions in the ataxin-7 gene.
|
30699348 |
2019 |
Spinocerebellar Ataxia Type 7
|
0.800 |
Biomarker
|
disease |
BEFREE |
Therefore, we propose that a primary toxic effect of polyQ expansion is the alteration of ATXN7 function in the daily renewal of OS in SCA7.
|
30445451 |
2019 |
Spinocerebellar Ataxia Type 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 7 (SCA7), a neurodegenerative disease characterized by cerebellar ataxia and retinal degeneration, is caused by a CAG repeat expansion in the ATXN7 gene coding region.
|
30721448 |
2019 |
Spinocerebellar Ataxia Type 7
|
0.800 |
Biomarker
|
disease |
BEFREE |
Ataxin-7 (Atx7) is a disease-related protein associated with the pathogenesis of spinocerebellar ataxia 7, while its polyglutamine (polyQ) tract in N-terminus is the causative source of aggregation and proteinopathy.
|
31097749 |
2019 |
Spinocerebellar Ataxia Type 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
At present, therapeutic strategies using nucleic acid-based molecules to silence mutant ATXN7 gene expression are under development for SCA7.
|
31432449 |
2019 |
Spinocerebellar Ataxia Type 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A hallmark of the neurodegenerative disease spinocerebellar ataxia type 7 (SCA7) is the intranuclear accumulation of mutant, misfolded ataxin-7 (polyQ-ATXN7).
|
30559154 |
2019 |
Spinocerebellar Ataxia Type 7
|
0.800 |
Biomarker
|
disease |
BEFREE |
Atxn7, a subunit of SAGA chromatin remodeling complex, is subject to polyglutamine expansion at the amino terminus, causing spinocerebellar ataxia type 7 (SCA7), a progressive retinal and neurodegenerative disease.
|
31348003 |
2019 |
Spinocerebellar Ataxia Type 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar Ataxia type 7 (SCA7, OMIM # 164500) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia and blindness.
|
29427104 |
2018 |
Spinocerebellar Ataxia Type 7
|
0.800 |
Biomarker
|
disease |
BEFREE |
Using Ataxin-7 aggregation, visual function, retinal histopathology, gene expression, and epigenetic dysregulation as outcome measures, we found that ASO-mediated Ataxin-7 knockdown yielded improvements in treated SCA7 mice.
|
30381411 |
2018 |
Spinocerebellar Ataxia Type 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by the expansion of a cytosine-adenine-guanine triplet located in the coding region of the ATXN7 gene, which is characterized by cerebellar ataxia, pigmentary macular degeneration, and dysarthria.
|
26992556 |
2017 |
Spinocerebellar Ataxia Type 7
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
These findings implicate altered ribosomal protein expression in sgf73Δ yeast RLS and highlight altered acetylation as a pathway of relevance for SCA7 neurodegeneration.
|
28568901 |
2017 |
Spinocerebellar Ataxia Type 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We aimed to understand the effect of diverse ATXN7 cis-element in correlation with CAG expansion mutation of SCA7.
|
28597910 |
2017 |
Spinocerebellar Ataxia Type 7
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Spinocerebellar Ataxia Type 7
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins.
|
27465358 |
2016 |
Spinocerebellar Ataxia Type 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To determine whether caspase cleavage is a critical event in SCA7 disease pathogenesis, we generated transgenic mice expressing polyQ-expanded ataxin-7 with a second-site mutation (D266N) to prevent caspase-7 proteolysis.
|
25859008 |
2015 |
Spinocerebellar Ataxia Type 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population.
|
25900954 |
2015 |
Spinocerebellar Ataxia Type 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by the expansion of a CAG repeat within the ataxin 7 gene, leading to a pathogenic polyglutamine tract within the ataxin 7 protein.
|
26003224 |
2015 |
Spinocerebellar Ataxia Type 7
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Our findings indicate that although ATXN7 poly(Q) expansions do not change the enzymatic activity of the DUBm, they likely contribute to SCA7 by initiating aggregates that sequester the DUBm away from its substrates.
|
25755283 |
2015 |
Spinocerebellar Ataxia Type 7
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this study we identified a previously unreported mechanism, involving disruption of p53 and NADPH oxidase 1 (NOX1) activity, by which the expanded SCA7 disease protein ATXN7 causes metabolic dysregulation.
|
25647692 |
2015 |
Spinocerebellar Ataxia Type 7
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Human ataxin 7 (Atx7) is a component of the deubiquitination module (DUBm) in the Spt-Ada-Gcn5-acetyltransferase (SAGA) complex for transcriptional regulation, and expansion of its polyglutamine (polyQ) tract leads to spinocerebellar ataxia type 7.
|
26195632 |
2015 |
Spinocerebellar Ataxia Type 7
|
0.800 |
Biomarker
|
disease |
BEFREE |
These genes were spinocerebellar ataxia (SCA)-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and dentatorubral-pallidolysian atrophy (DRPLA) (ATN1).
|
26077168 |
2015 |
Spinocerebellar Ataxia Type 7
|
0.800 |
Biomarker
|
disease |
BEFREE |
Specifically, in spinocerebellar ataxia type 7 (SCA7), a neurodegenerative disorder caused by a CAG-repeat expansion in ATXN7 (which encodes an essential component of the mammalian transcription coactivation complex, STAGA), the factors underlying the characteristic progressive cerebellar and retinal degeneration in patients were unknown.
|
25306109 |
2014 |
Spinocerebellar Ataxia Type 7
|
0.800 |
Biomarker
|
disease |
BEFREE |
To determine whether the autophagy/lysosome system contributes to the pathogenesis of spinocerebellar ataxia type 7 (SCA7), caused by expansion of a polyglutamine tract in the ataxin-7 protein, we looked for biochemical, histological and transcriptomic abnormalities in components of the autophagy/lysosome pathway in a knock-in mouse model of the disease, postmortem brain and peripheral blood mononuclear cells (PBMC) from patients.
|
24859968 |
2014 |
Spinocerebellar Ataxia Type 7
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
These studies address an important safety concern regarding non-allele specific silencing of ataxin-7 for SCA7 retinal therapy.
|
24759684 |
2014 |
Spinocerebellar Ataxia Type 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts.
|
24667781 |
2014 |