ATXN1 Antibody

1. These convergent evidences support ATXN1 as a promising risk gene for Schizophrenia, and the integrated approach serves as a useful tool for dissecting the genetic basis of schizophrenia. PMID: 29055568
2. JNK and DUSP18 reciprocally modulate the SUMOylation, which plays a regulatory role in the aggregation of ataxin-1. PMID: 29852174
3. ATXN1 might contribute to neuronal degeneration leading to ALS. PMID: 29274668
4. SCA1 mutation carriers performed similarly to controls in the postural tasks with open eyes, whereas in conditions without visual feedback SCA1 carriers had significantly higher stability index than controls at all longitudinal evaluations. Close-to-disease onset carriers (PMID: 28551466
5. In cervical cancer cells, ATXN1 knockdown induced EMT by directly regulating Snail expression, leading to matrix metalloproteinase activation and the promotion of cell migration and invasion. PMID: 28212558
6. ATXN1 underexpression is associated with metabolic diseases. PMID: 27918534
7. data suggest GSK3b and mTOR pathways modulate this ATXN1 function in spinocerebellar ataxia type-1 (SCA1)pathogenesis that could be targeted therapeutically prior to the onset of disease symptoms in SCA1 and other pathologies involving dysregulation of ATXN1 functions. PMID: 27466200
8. SCA1 phenotypes could be reversed by partial suppression of human mutant ATXN1 mRNA by rAAV.miS1 when delivered after symptom onset in mice. PMID: 27686464
9. SCA1 relative frequency in Poland shows the highest value compared with the data from other countries worldwide in patient with Spinocerebellar ataxias PMID: 27193757
10. Studied Ataxin-1 using molecular modeling to investigate the protein-protein interactions contributing to the AXH domain dimer stability. PMID: 26879337
11. Data indicate that in spinocerebellar ataxia type 1 patients the spinocerebellar ataxia type 1 protein trinucleotide repeat expansion (CAG)n was great than 39, comparing with normal 6-38. PMID: 27577232
12. This study reports the results of molecular dynamics simulations of AXH monomer of Ataxin-1. PMID: 26522012
13. Systematic replacement of each lysine residue in the AXH domain revealed that the lysine at 589 (K589) of ATXN1 is essential for its ubiquitylation by UbcH6. PMID: 25641559
14. Results show that two SNPs in ATXN1 gene have a founder effect of the same repeat carrying allele as in the general Indian population suggesting that that Spinocerebellar ataxia type 1 disease onset is significantly delayed when transmission is maternal. PMID: 25344417
15. this work provides the structural and molecular basis of the interaction between RBM17 and the phosphorylated form of ATXN1. PMID: 24858692
16. Partner recognition of the AXH domain of the transcriptional co-regulator ataxin-1 is fine-tuned by a subtle balance between self- and hetero-associations. PMID: 24155902
17. We measured cerebellar neurochemical alterations in a knock-in mouse model of spinocerebellar ataxia type 1, a hereditary movement disorder, using ultra-high field magnetic resonance spectroscopy (MRS). PMID: 24032423
18. Data indicate that the alternative ataxin-1 (ATXN1) protein is constitutively co-expressed and interacts with ATXN1. PMID: 23760502
19. SCA 1 was the most frequent occurring type of SCA identified in the Autosomal dominant hereditary ataxia in Sri Lanka. PMID: 23634774
20. Results show variation in ATXN1 is implicated in disordered gambling PMID: 22780124
21. conformational heterogeneity of the AXH domain of ataxin-1 PMID: 23528090
22. Patients carrying JARID2 deletion manifested with cognitive impairment, gait disturbance and a characteristic facial appearance, whereas patients with deletion of ATXN1 seemed to be characterized by intellectual disability and behavioural abnormalities PMID: 23294540
23. multiple components of the RAS-MAPK-MSK1 pathway influence ATXN1 levels in Drosophila and human cells PMID: 23719381
24. This study showed that develop progressive cerebellar degeneration requires expressing ATXN1 with an expanded polyglutamine tract. PMID: 23536093
25. Both ATXN-1 and ATXN-2 PolyQ intermediate expansions are independently associated with an increased risk for ALS. PMID: 23197749
26. MED15 and PUM1 proteins with coiled-coil domains are potent enhancers of polyQ-mediated ataxin-1 protein misfolding and proteotoxicity in vitro and in vivo. PMID: 22916034
27. FOX-2 is involved in splicing of ataxin-2 transcripts and that this splicing event is altered by overexpression of ataxin-1 PMID: 22666429
28. Data indicate that neuroprotectin D1 (NPD1) synthesis is an early response induced by proteotoxic stress due to abnormally folded ataxin-1. PMID: 22511762
29. results suggest that expanded ATXN1 may induce unregulated ionic pathways in the nuclear membrane, causing severe damage to the cell PMID: 22330095
30. This study demonistrated that Disease progressed of autosomal dominant cerebellar ataxia and spastic paraplegia faster in SCA s with polyglutamine expansions in SCA1, 2, and 3. PMID: 22491195
31. Both ATXN1 and BOAT1 bind to the promoter region of Hey1 and inhibit the transcriptional output of Notch through direct interactions with CBF1, a transcription factor that is crucial for the Notch pathway. PMID: 21475249
32. This study demonstrates that ataxin-1 occupies the promoter region of E-cadherin in vivo and that ataxin-1 activates the promoter in a CtBP2-mediated transcriptional regulation manner. PMID: 21315774
33. The ATXN1 gene is related to intelligence in an ADHD background. PMID: 21302343
34. Phosphorylation of transgenic ataxin-1 at the serine-776 motif is critical for ataxin-1 mediated toxicity. PMID: 20477910
35. ATXN1 functions as a genetic risk modifier that contributes to AD pathogenesis through a loss-of-function mechanism by regulating beta-secretase cleavage of APP and Abeta levels PMID: 20097758
36. The neurochemical alterations detected in SCA1[82Q] transgenic mice are primarily due to expansion of the polyglutamine repeat in ataxin-1, rather than the overexpression of the human protein. PMID: 20220018
37. Together these results indicate that SUMO modification of ataxin-1 promotes the aggregation of ataxin-1 and that oxidative stress and JNK pathway play roles in this process. PMID: 20132795
38. p62 contributed to the assembly of proteasome-containing degradative compartments in the vicinity of nuclear aggregates containing polyglutamine-expanded Ataxin1Q84 and to the degradation of Ataxin1Q84. PMID: 20018885
39. in spinocrebellar attaxia, a trinucleotide expansion disease...a possible role of this SCA1 allele with 31 repeats in triplet diseases...a possible role of the SCA1 region in pathological trinucleotide repeat expansions. PMID: 11807410
40. Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles PMID: 11973625
41. Two types of ataxin1 inclusions exist; those undergoing rapid, complete exchange with a nucleoplasmic pool, and those that contain varying levels of slow-exchanging ataxin1. The latter inclusions contain high ubiquitin levels, but low proteasome levels. PMID: 12360291
42. phylogenetic evidence from deletions in SCA1 PMID: 12411613
43. p80 coilin protein co-localizes with ataxin-1 aggregates in the nucleoplasm PMID: 12757932
44. analysis of SCA1 AXH domain structure PMID: 14583607
45. We demonstrate that abolishing full-length mutant human ataxin-7 transgene expression did not reverse retinopathy progression in SCA7 mice, raising the possibility that some polyQ-induced pathological events might be irreversible. PMID: 14985428
46. the structural role of the CAU interruptions in the SCA1 transcripts that destabilize the CAG repeat hairpin PMID: 15292212
47. SCA1 genotypes in a Polish population are significantly different in allele spectra & frequencies from other populations. The dynamic mutation of SCA1 may begin from the expansion of long pure repeat tracts without the prior loss of interruptions. PMID: 15300851
48. Ataxin-1 localization to inclusions and inclusion dynamics within the nucleus are RNA- and transcription-dependent. PMID: 15615787
49. polyglutamine-expanded ataxin-1 decreases the activity of the proteasome, implying that a disturbance in the ubiquitin-proteasome pathway is directly involved in the development of spinocerebellar ataxia type 1 PMID: 15750336
50. A novel phosphorylation site at serine 239 was demonstarted in ataxin-1. PMID: 15878393

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HGNC: 10548

OMIM: 164400

KEGG: hsa:6310

STRING: 9606.ENSP00000244769

UniGene: Hs.434961