ATXN2 Antibody

1. STAU1 is recruited to mutant ATXN2 aggregates in spinocerebellar ataxia type 2 fibroblasts. PMID: 30194296
2. Intermediate-length ATXN2 repeat expansions might be a risk factor in Korean patients with ALS. PMID: 29665996
3. A novel variant in ATXN2 was identified in a Chinese population that was linked to age of onset in Machado-Joseph disease. PMID: 27452601
4. 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. PMID: 28648514
5. SCA2 should be considered as a cause of typical Parkinson's disease phenotype even in the absence of cerebellar ataxia PMID: 28462804
6. 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. PMID: 28076580
7. Deleterious non synonymous single nucleotide polymorphisms in ATXN2 Gene is associated with protein instability and conformational changes resulting in spinocerebellar ataxia. PMID: 28612427
8. 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. PMID: 26095883
9. The findings of this sstudy suggest that ATXN2 may modify the known PINK1 roles for mitochondrial quality control and autophagy during cell stress. PMID: 27597528
10. 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. PMID: 27663142
11. C9orf72 and ATXN2 repeat expansions cause ataxia, dementia, and parkinsonism in a Guyana family. PMID: 28124431
12. Intermediate length repeat expansions of CAG (polyQ) repeat in the ATXN2 gene have also been reported to increase the risk of developing ALS. PMID: 28527524
13. Intermediate ATXN2 trinucleotide repeat expansion in ALS does not predict age of onset but does predict disease risk. PMID: 28017481
14. 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. PMID: 27103069
15. ATXN2-AS, a gene antisense to ATXN2 has a role in SCA2 and possibly ALS pathogenesis. PMID: 27531668
16. It is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion. PMID: 26733254
17. Selective loss of Purkinje cells in the cerebellar vermis of amyotrophic lateral sclerosis cases with intermediate repeat expansions in the ATXN2 gene. PMID: 26599997
18. A meta-analysis of the top SNPs identified three new associated loci in primary open angle glaucoma--TXNRD2, ATXN2, and FOXC1 PMID: 26752265
19. 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. PMID: 26663046
20. ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.( PMID: 26208502
21. FBXW8 and PARK2 are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 expression is dysregulated PMID: 25790475
22. This is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 and SCA10 phenotype. PMID: 25630585
23. ATXN2 intermediate-length polyglutamine expansions greater than 24 and 27 repeats were associated with sporadic ALS. PMID: 25457026
24. ATXN2 CAG expansion is the sole causative mutation responsible for parkinsonian phenotype of spinocerebellar ataxia-2. PMID: 25189117
25. results indicate presence of intermediate CAG repeat expansion in the ATXN2 gene is a specific genetic risk factor for amyotrophic lateral sclerosis [review, meta-anlysis] PMID: 25148523
26. Review of the role of epigenetics and the ATXN2 gene in spinocerebellar ataxia 2 and amyotrophic lateral sclerosis. PMID: 24485162
27. This study demonistrated that ATXN2 polyQ intermediate-length repeat is a modifier of ALS survival in Italian population. PMID: 25527265
28. The data of this study showed that a total of 64.3% of familial and 27.8% of sporadic subjects carried potentially pathogenic novel or rare coding variants identified by sequencing or an expanded repeat in C9ORF72 or ATXN2. PMID: 25382069
29. this meta-analysis calculates association between ATXN2 CAG repeat alleles and increased risk of ALS across multiple ethnic groups. PMID: 25285812
30. Intermediate ATXN2 repeat lengths may render C9ORF72 expansion carriers more susceptible to the development of motorneuron disease. PMID: 24866401
31. Evidence supports the hypothesis of large normal alleles being a reservoir of expanded alleles in SCA2, related to autosomal dominant cerebellar ataxias. PMID: 23865735
32. the ATXN2 gene may confer vulnerability for Schizophrenia PMID: 24333172
33. ATXN2 intermediary repeat length is a strong risk factor for amyotrophic lateral sclerosis (ALS) and ALS-frontotemporal dementia [FTD-ALS]; propose ATXN2 polyQ expansions could act as a modifier of the FTD phenotype in the presence of C9orf72 repeat expansion, leading to development of clinical signs featuring both FTD and ALS PMID: 25098532
34. Cdk5 controls the abundance of both normal and polyQ-expanded ataxin-2 protein in neurons PMID: 24486837
35. Ataxin-2 is an RNA-binding protein that targets cis-regulatory elements in 3' UTRs to stabilize a subset of mRNAs and increase protein expression. PMID: 24954906
36. Couples with no family history of SCA2 may have a >0 % risk of having an affected offspring. Similarly, couples in which there is both an expanded and a large normal allele may have a recurrence risk >50 % PMID: 23813298
37. The pathological expansions (>34 repeats) of a CAG repeat in ATXN2, which encodes a polyglutamine tract in ataxin-2, cause spinocerebellar ataxia type 2, Intermediate-length expansions were reported to contribute to susceptibility to ALS PMID: 24085347
38. This study presented that early features of SCA2 are detectable before the onset of the cerebellar syndrome, and are associated with expanded CAG repeats and the time to onset of cerebellar syndrome. PMID: 24657153
39. the association of de novo mutations in ATXN2 with autosomal dominant amyotrophic lateral sclerosis PMID: 23936447
40. Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus. PMID: 23844121
41. Our data indicate that, for ALS patients from mainland China, intermediate CAG repeat expansions in ATXN2 increase the risk of a amyotrophic lateral sclerosis (ALS) but have no effect on disease phenotype PMID: 23635656
42. Data indicate that the expanded CAG repeat varied between 32 and 79 with a mean of 41.4 +/- 5.7 units. PMID: 22758789
43. Golgi fragmentation was enhanced, and the early stages of apoptosis were triggered, when ataxin-2 Q31 was co-expressed with mutant FUS. PMID: 23172909
44. ataxin 2 and ataxin 2-like have functional overlap, with ataxin-2-like having a role in the regulation of stress granules and processing bodies PMID: 23209657
45. observations suggest that genotyping of SNPs at this locus may be useful for the study of ALS risk in a high percentage of individuals and that ATXN2 and SH2B3 variants may interact in modulating the disease pathway PMID: 22916186
46. ETS1 regulates the expression of ATXN2. PMID: 22914732
47. ataxin-2 has roles in pathological cascades mediated by TAR DNA-binding protein 43 (TDP-43) and Fused in Sarcoma (FUS) PMID: 23048034
48. This study demonistrated that ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia. PMID: 22868089
49. ATXN2 associated polyglutamine amplification is specific to the amyotrophic lateral sclerosis-end of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis disease spectrum. PMID: 22035589
50. our findings indicate that only ATAXIN-2 alleles with >/= 31 CAG may represent low-penetrance disease/susceptibility alleles associated with variable neurodegenerative phenotypes, including cerebellar ataxia, parkinsonism, and ALS. PMID: 22425256

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HGNC: 10555

OMIM: 183090

KEGG: hsa:6311

STRING: 9606.ENSP00000366843

UniGene: Hs.732512