Spinocerebellar Ataxia Type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Finally, ATXN1[82Q] transgenic mice-with cerebellum limited expression of mutant ATXN1-demonstrated milder impairment in most aspects of cognition compared to Atxn1154Q/2Q mice, supporting the concept that cognitive deficits in SCA1 arise from a combination of cerebellar and extra-cerebellar dysfunctions.
|
31696233 |
2020 |
Spinocerebellar Ataxia Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Together, the data presented here shed light into a previously unknown role for the ATXN1 5'UTR in the regulation of Ataxin-1 and provide new opportunities for the development of SCA1 therapeutics.
|
31381977 |
2020 |
Spinocerebellar Ataxia Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathological polyQ expansion, such as that in human Ataxin-1 (ATXN1), that causes spinocerebellar ataxia type 1 (SCA1), results in abnormal PPI.
|
31655597 |
2019 |
Spinocerebellar Ataxia Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study investigated the feasibility of transplanting human umbilical mesenchymal stem cells (HUMSCs) into transgenic SCA1 mice containing an expanded uninterrupted allele with 82 repeats in the <i>ATXN1-</i>coding region.
|
31508229 |
2019 |
Spinocerebellar Ataxia Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Expansion of CAG trinucleotide repeats in ATXN1 causes spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disease that impairs coordination and cognition.
|
31442405 |
2019 |
Spinocerebellar Ataxia Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 1 (SCA1) caused by pathogenic CAG repeat expansion in the ATXN1 is characterized by loss of vision with little fundus abnormalities in some patients.
|
30729852 |
2019 |
Spinocerebellar Ataxia Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
The expanded repeat length in ATXN1 negatively correlates with age at onset (AAO) of spinocerebellar ataxia type 1 (SCA1) but can explain only part of it, indicating that other factors affect AAO.
|
30891880 |
2019 |
Spinocerebellar Ataxia Type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, pharmacological inhibition of PAKs decreases ATXN1 levels in a mouse model of SCA1.
|
29860311 |
2018 |
Spinocerebellar Ataxia Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here we show that pharmacologic inhibition of S776 phosphorylation in transfected cells and SCA1 patient iPSC-derived neuronal cells lead to a decrease in ATXN1.
|
29758256 |
2018 |
Spinocerebellar Ataxia Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this study, we exclusively disrupt the ATXN1-CIC interaction in vivo and show that it is at the crux of cerebellar toxicity in SCA1.
|
29526553 |
2018 |
Spinocerebellar Ataxia Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
SCA1 transgenic mice develop clinical features in the early life stages (around 5 weeks of age) presenting pathological cerebellar signs with concomitant progressive Purkinje neuron atrophy and relatively little cell loss; this evidence suggests that the SCA1 phenotype is not the result of cell death per se, but a possible effect of cellular dysfunction that occurs before neuronal demise.
|
30113722 |
2018 |
Spinocerebellar Ataxia Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutant ATXN1 thus alters the neural circuitry of the developing cerebellum, setting the stage for the later vulnerability of Purkinje cells to SCA1.
|
29533923 |
2018 |
Spinocerebellar Ataxia Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 1 (SCA1) is a hereditary neurodegenerative disease caused by a CAG repeat expansion in exon 8 of the ATXN1 gene.
|
29656178 |
2018 |
Spinocerebellar Ataxia Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 1 (SCA1) is a fatal, dominantly inherited neurodegenerative disease caused by the expansion of CAG repeats in the Ataxin-1 (ATXN1) gene.
|
30043530 |
2018 |
Spinocerebellar Ataxia Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results indicate that NF-κB signaling is required for increase in microglial numbers and TNF-α production in the cerebella of ATXN1[82Q] mouse model of SCA1.
|
29975753 |
2018 |
Spinocerebellar Ataxia Type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Together, these findings support the efficacy and therapeutic importance of directly targeting ATXN1 RNA expression as a strategy for treating both motor deficits and lethality in SCA1.
|
30385727 |
2018 |
Spinocerebellar Ataxia Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
The AXH domain of protein Ataxin 1 is thought to play a key role in the misfolding and aggregation pathway responsible for Spinocerebellar ataxia 1.
|
29401430 |
2018 |
Spinocerebellar Ataxia Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ataxin-1 mutation, arising from a polyglutamine (polyQ) tract expansion, is the underlying genetic cause of the late-onset neurodegenerative disease Spinocerebellar ataxia type 1 (SCA1).
|
30457570 |
2018 |
Spinocerebellar Ataxia Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Polyglutamine (polyQ) expansion in the protein Ataxin-1 (ATXN1) causes spinocerebellar ataxia type 1 (SCA1), a fatal dominantly inherited neurodegenerative disease characterized by motor deficits, cerebellar neurodegeneration, and gliosis.
|
28545543 |
2017 |
Spinocerebellar Ataxia Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Ataxin-1 (ATXN1) is a coregulator protein within which expansion of the polyglutamine tract causes spinocerebellar ataxia type 1, an autosomal dominant neurodegenerative disorder.
|
29212253 |
2017 |
Spinocerebellar Ataxia Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
The mutant form of the protein ataxin-1 (ATXN1) causes the neurodegenerative disease spinocerebellar ataxia type-1.
|
28212558 |
2017 |
Spinocerebellar Ataxia Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutant Ataxin-1 Inhibits Neural Progenitor Cell Proliferation in SCA1.
|
27306906 |
2017 |
Spinocerebellar Ataxia Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results contrast the sensitivity of the developing cerebellum and remarkable resilience of the adult cerebellum to mutant ATXN1 and imply that SCA1 in this mouse model is both a developmental and neurodegenerative disorder.
|
28979190 |
2017 |
Spinocerebellar Ataxia Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Pharmacological inhibition of GSK3β and activation of mTOR in a SCA1 cell model ameliorated identified ATXN1-regulated metabolic proteome and ATP alterations.
|
27466200 |
2016 |
Spinocerebellar Ataxia Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 1 (SCA1) is a devastating neurodegenerative disorder in which an abnormally expanded polyglutamine tract is inserted into causative ataxin-1 proteins.
|
26707550 |
2016 |