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The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Additionally we are shipping Ataxin 2 Antibodies (66) and Ataxin 2 Kits (20) and many more products for this protein.
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It is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 (show C9ORF72 Proteins) GGGGCC expansion.
Selective loss of Purkinje cells in the cerebellar vermis of amyotrophic lateral sclerosis cases with intermediate repeat expansions in the ATXN2 gene.
A meta-analysis of the top SNPs identified three new associated loci in primary open angle glaucoma--TXNRD2 (show TXNRD2 Proteins), ATXN2, and FOXC1 (show FOXC1 Proteins)
Data suggest that the spinocerebellar ataxia 2 protein (ATXN2, SCA2) CAG/CAA repeat expansion may play an important role in the phenotypic variability of Parkinson's disease.
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.(
FBXW8 (show FBXW8 Proteins) and PARK2 (show PARK2 Proteins) are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 (show FBXW8 Proteins) expression is dysregulated
This is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 (show LY6E Proteins) and SCA10 (show ATXN10 Proteins) phenotype.
ATXN2 intermediate-length polyglutamine expansions greater than 24 and 27 repeats were associated with sporadic ALS.
ATXN2 CAG expansion is the sole causative mutation responsible for parkinsonian phenotype of spinocerebellar ataxia (show USP14 Proteins)-2.
results indicate presence of intermediate CAG repeat (show CELF3 Proteins) expansion in the ATXN2 gene is a specific genetic risk factor for amyotrophic lateral sclerosis [review, meta-anlysis]
work suggests that in Machado-Joseph disease, mutant ataxin-3 (show ATXN3 Proteins) drives an abnormal reduction of ataxin-2 levels, which overactivates poly(A)-binding protein, increases translation of mutant ataxin-3 (show ATXN3 Proteins) and other proteins and aggravates Machado-Joseph disease.
ATXN2 interacted selectively with RGS8 (show RGS8 Proteins) mRNA. This interaction was impaired when ATXN2 harbored an expanded polyglutamine. Mutant ATXN2 also reduced RGS8 (show RGS8 Proteins) expression in an in vitro coupled translation
The physiological role of ATXN2 subtly modifies the abundance of cellular translation factors as well as global translation.
In KO mice, ATXN2 deficiency alters steady-state levels of Grb2 and Src, but does not block Grb2-dependent Ras signaling.
our data support the concept that expanded ATXN2 undergoes progressive insolubility and affects PABPC1 (show PABPC1 Proteins) by a toxic gain-of-function mechanism with tissue-specific effects, which may be partially alleviated by the induction of FBXW8 (show FBXW8 Proteins).
Ataxin-2 is not essential in development or during adult survival in the mouse, but leads to adult-onset obesity.
In analyses up to the age of 6 months, the ataxin-2 deficient mouse showed abdominal obesity and hepatosteatosis and this was associated with reduced insulin receptor (show INSR Proteins) expression in liver and cerebellum.
These data implicate ataxin-2 to play a role in endocytic receptor cycling.
results suggest that Atxn2-deficiency results in a specific set of behavioral and cellular disturbances that include motor hyperactivity and abnormal fear-related behaviors, but intact hippocampal function
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined.
, spinocerebellar ataxia type 2 protein
, trinucleotide repeat containing 13
, trinucleotide repeat-containing gene 13 protein
, spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)
, spinocerebellar ataxia 2 homolog
, spinocerebellar ataxia type 2 protein homolog
, ataxin-2-like protein-like