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STAU1 is recruited to mutant ATXN2 aggregates in spinocerebellar ataxia type 2 fibroblasts.
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Intermediate-length ATXN2 repeat expansions might be a risk factor in Korean patients with ALS.
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A novel variant in ATXN2 was identified in a Chinese population that was linked to age of onset in Machado-Joseph disease.
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Among correlations found, such as that between dystonia and CAG expansion. Of note was the association between cognitive decline and the variant G at mitochondrial polymorphism A10398G, a variant formerly related to earlier ages at onset in SCA2.
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SCA2 should be considered as a cause of typical Parkinson's disease phenotype even in the absence of cerebellar ataxia
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Este es el primer estudio que permite sugerir la asociacion del polimorfismo (CAG)n del gen ATXN2 con el desarrollo de DM tipo 2 pura en poblacion de escasos recursos. Los alelos normales largos del VNTR son factores que aumentan el riesgo para DM tipo 2 pura en la poblacion mexicana analizada.
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Deleterious non synonymous single nucleotide polymorphisms in ATXN2 Gene is associated with protein instability and conformational changes resulting in spinocerebellar ataxia.
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Intermediate expansions of the CAG repeat in ATXN2 are associated with amyotrophic lateral sclerosis. They are mostly associated with TDP-43 proteinopathy, but not with 1C2-positive polyglutamine inclusions.
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The findings of this sstudy suggest that ATXN2 may modify the known PINK1 roles for mitochondrial quality control and autophagy during cell stress.
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The conclusion pof this study , the transcriptome data do not exclude the role of ATXN2 mutated alleles in Parkinson disease but its decrease protein expression in both SCA2c and SCA2p patients suggest a potential involvement of this gene in Parkinson disease.
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C9orf72 and ATXN2 repeat expansions cause ataxia, dementia, and parkinsonism in a Guyana family.
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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.
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Intermediate ATXN2 trinucleotide repeat expansion in ALS does not predict age of onset but does predict disease risk.
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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.
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ATXN2-AS, a gene antisense to ATXN2 has a role in SCA2 and possibly ALS pathogenesis.
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It is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.
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Selective loss of Purkinje cells in the cerebellar vermis of amyotrophic lateral sclerosis cases with intermediate repeat expansions in the ATXN2 gene.
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A meta-analysis of the top SNPs identified three new associated loci in primary open angle glaucoma--TXNRD2, ATXN2, and FOXC1
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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.
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ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.(
