Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
Taken together, we provide evidence that Ataxin-2 plays an evolutionary conserved role in ER dynamics and morphology in C. elegans and Drosophila embryos during development and in fly neurons, suggesting a possible SCA2 disease mechanism.
|
30989774 |
2019 |
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2) is caused by an unstable expanded CAG repeat tract (CAGexp) at ATXN2.
|
30219976 |
2019 |
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
We performed DBS of the ventral intermediate nucleus (Vim) of the thalamus for treatment of coarse action tremor in a patient with SCA2 (spinocerebellar ataxia type 2) in the wheelchair-bound stage.
|
31743916 |
2019 |
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
The effective therapeutic treatment and the disease-modifying therapy for spinocerebellar ataxia type 2 (SCA2) (a progressive hereditary disease caused by an expansion of polyglutamine in the ataxin-2 protein) is not available yet.
|
31435879 |
2019 |
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
SCA2 is caused by spontaneous misfolding and aggregate formation from abnormal CAG trinucleotide repeat expansion in the coding region of the ATXN2 gene.
|
30611021 |
2019 |
Spinocerebellar Ataxia Type 2
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
In order to understand the molecular disease mechanism throughout different prognostic stages, we generated an Atxn2-CAG100-knock-in (KIN) mouse model of SCA2 with intact murine ATXN2 expression regulation.
|
31376479 |
2019 |
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Conversely, the progressive ATXN2 gain of function due to the fact of polyglutamine (polyQ) expansions leads to a dominantly inherited neurodegenerative process named spinocerebellar ataxia type 2 (SCA2) with early adipose tissue loss and late muscle atrophy.
|
31766565 |
2019 |
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
This chapter describes the characteristics of SCA2 patients briefly, and reviews ATXN2 molecular features and progress toward the identification of a treatment for SCA2.
|
29427103 |
2018 |
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2.
|
29756284 |
2018 |
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Expansion of polyglutamine trinucleotide (CAG) within ATXN2 gene with 35 or more repeats, results in spinocerebellar ataxia type-2.
|
28612427 |
2018 |
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest a function for STAU1 in aberrant RNA metabolism associated with ATXN2 mutation, suggesting STAU1 is a possible novel therapeutic target for SCA2.
|
30194296 |
2018 |
Spinocerebellar Ataxia Type 2
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
We demonstrated that reduction of ATXN2 expression in SCA2 mice treated by intracerebroventicular injection (ICV) of ATXN2 ASO delayed motor phenotype onset, improved the expression of several genes demonstrated abnormally reduced by transcriptomic profiling of SCA2 mice, and restored abnormal Purkinje cell firing frequency in acute cerebellar sections.
|
29560813 |
2018 |
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
Human Ataxin-2 is implicated in the cause and progression of amyotrophic lateral sclerosis (ALS) and type 2 spinocerebellar ataxia (SCA-2).
|
29772202 |
2018 |
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2) is a rare neurodegenerative disorder caused by a CAG repeat expansion in the ataxin-2 gene.
|
28263872 |
2017 |
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
However, in mammals the function of Ataxin-2 is unknown despite its involvement in the inherited neurogenerative disease Spinocerebellar Ataxia type 2 in humans.
|
27791392 |
2017 |
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2) is due to a CAG expansion (CAGexp) at ATXN2.
|
28648514 |
2017 |
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2), caused by a CAG expansion (CAGexp) at ATXN2, has a complex clinical picture.
|
28456900 |
2017 |
Spinocerebellar Ataxia Type 2
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
The most promising oligonucleotide, ASO7, downregulated ATXN2 mRNA and protein, which resulted in delayed onset of the SCA2 phenotype.
|
28405024 |
2017 |
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3) are two common autosomal-dominant inherited ataxia syndromes, both of which are related to the unstable expansion of trinucleotide CAG repeats in the coding region of the related ATXN2 and ATXN3 genes, respectively.
|
26861241 |
2017 |
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
Recent findings linking ataxin-2 intermediate expansions to other neurodegenerative diseases such as amyotrophic lateral sclerosis have provided insights into the ataxin-2-related toxicity mechanism in neurodegenerative diseases and have raised new ethical challenges to molecular predictive diagnosis of SCA2.
|
28955296 |
2017 |
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
We conclude that SCA2 is a disease characterized by gain of function for ATXN2.
|
28525545 |
2017 |
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We discuss these findings in the context of large repeat expansions in ATXN2 and spinocerebellar ataxia type 2, providing evidence that intermediate repeats in ATXN2 cause significant, albeit less substantial, spinocerebellar damage compared with longer repeats in ATXN2.
|
26599997 |
2016 |
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
The ATXN2 CAG repeat is translated into polyglutamine, and SCA2 pathogenesis has been thought to derive from ATXN2 protein containing an expanded polyglutamine tract.
|
27531668 |
2016 |
Spinocerebellar Ataxia Type 2
|
0.900 |
Biomarker
|
disease |
BEFREE |
Search for SCA2 blood RNA biomarkers highlights Ataxin-2 as strong modifier of the mitochondrial factor PINK1 levels.
|
27597528 |
2016 |
Spinocerebellar Ataxia Type 2
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To study the molecular events associated with these expansions, we sequenced them and analyzed the transcriptome from blood cells of controls and three patient groups diagnosed with spinocerebellar ataxia type 2 (herein referred to as SCA2c) or PD with or without ATXN2 triplet expansions (named SCA2p).
|
27663142 |
2016 |