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Intermediate length repeat expansions of CAG (polyQ) repeat in the ATXN2 gene have also been reported to increase the risk of developing ALS.
Intermediate ATXN2 trinucleotide repeat expansion in ALS does not predict age of onset but does predict disease risk.
While depletion of C9ORF72 only has a partial deleterious effect on neuron survival, it synergizes with the toxicity of Ataxin-2 carrying intermediate length of polyglutamine expansions to induce motor neuron dysfunction and neuronal cell death.
ATXN2-AS, a gene antisense to ATXN2 has a role in SCA2 and possibly ALS pathogenesis.
It is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 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 ELISA Kits), ATXN2, and FOXC1 (show FOXC1 ELISA Kits)
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 ELISA Kits) and PARK2 (show PARK2 ELISA Kits) are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 (show FBXW8 ELISA Kits) expression is dysregulated
Findings provide evidence that the physiological functions and protein interactions of ATXN2 are relevant for calcium-mediated excitation of Purkinje cells as well as for ATXN2-triggered neurotoxicity.
Results from global proteome and metabolome profiling of Atxn2-KO mouse liver and cerebellum indicates that ATXN2 modulates nutrition and basal metabolism.
work suggests that in Machado-Joseph disease, mutant ataxin-3 (show ATXN3 ELISA Kits) drives an abnormal reduction of ataxin-2 levels, which overactivates poly(A)-binding protein, increases translation of mutant ataxin-3 (show ATXN3 ELISA Kits) and other proteins and aggravates Machado-Joseph disease.
ATXN2 interacted selectively with RGS8 (show RGS8 ELISA Kits) mRNA. This interaction was impaired when ATXN2 harbored an expanded polyglutamine. Mutant ATXN2 also reduced RGS8 (show RGS8 ELISA Kits) 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 ELISA Kits) by a toxic gain-of-function mechanism with tissue-specific effects, which may be partially alleviated by the induction of FBXW8 (show FBXW8 ELISA Kits).
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 ELISA Kits) expression in liver and cerebellum.
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