Recombinant Human Ataxin-7 (ATXN7), partial

1. Genetic testing showed the presence of 48 CAG repeats within one ATXN7 gene for spinocerebellar ataxia type 7 (SCA7). PMID: 28645341
2. we observed that carriers of either ATXN7 or TBP alleles with relatively large CAG repeat sizes in both alleles had a substantially increased risk of lifetime depression. PMID: 28585930
3. The intronic SNP rs6798742 is associated with ATXN7 CAG-region expansion. PMID: 28597910
4. ATXN7 may be a potential predictor of post-operative prognosis of Hepatitis B Virus-related hepatocellular carcinoma . PMID: 27855399
5. South American cohort did not confirm the effect of the four candidate loci as modifier of onset age: mithocondrial A10398G polymorphism and CAGn at RAI1, CACNA1A, ATXN3, and ATXN7 genes PMID: 25869926
6. Our study provided the clinico-genetic analysis of nine Indian SCA7 families and CAG repeat distribution analysis in diverse Indian populations showed occurrence of ATXN7-CAG intermediate alleles in a predisposed population PMID: 25900954
7. Data show that the aggregates formed by polyQ-expanded ataxin 7 sequester ubiquitin-specific protease (USP22) through specific interactions. PMID: 26195632
8. Two pathological polyglutamine proteins, truncated Ataxin-7 and full-length Ataxin-3, suggest that accumulation of insoluble aggregates beyond a critical threshold could be responsible for neurotoxicity. PMID: 26210447
9. The proband exhibited a typical phenotype of SCA7, which includes cone dystrophy and spinocerebellar ataxia. PMID: 25643591
10. Results suggest that sequestration of both enzymatic centers in SAGA upon ATXN7 poly(Q) expansion likely contributes to spinocerebellar ataxia type 7 development and progression. PMID: 25755283
11. This study shown evidence in vivo, in the SCA7 KI mouse model, that progressive accumulation of mutant ataxin-7 impairs autophagy. PMID: 24859968
12. Epidemiological evidence of a SCA7 founder effect in a Mexican population with spinocerebellar ataxia. PMID: 23368522
13. analysis of the founder effect and ancestral origin of the spinocerebellar ataxia type 7 mutation in Mexican families PMID: 24374739
14. Haplotype and phylogenetic analyses provide evidence showing that the relatively high frequency of SCA7 in Mexican population is the result of a founder mutation and that Mexican SCA7 carriers possess the Western European ancestry. PMID: 23828024
15. polyQ-expanded ataxin-7 directly bound the Gcn5 catalytic core of SAGA while in association with its regulatory proteins, Ada2 and Ada3. PMID: 24129567
16. The results demonstrated that a common genetic variant in the ataxia-causing gene ATXN7 influences cerebellar grey matter volume in healthy young adults. PMID: 23100044
17. Sequestration of the ponsin splice variant R85FL by the polyglutamine-expanded Atx7 in cell is mediated by the specific SH3C-PRR interaction, which is implicated in the pathogenesis of spinocerebellar ataxia 7. PMID: 23892081
18. role of ataxin-7 in differentiation of photoreceptors and cerebellar neurons PMID: 23226359
19. Full-length and cleaved fragments of the SCA7 disease protein ataxin-7 (ATXN7) are differentially degraded in a spinocerebellar ataxia type 7 rat model. PMID: 22367614
20. Critical nuclear events lead to transcriptional alterations in polyglutamine diseases such as spinocerebellar ataxia type 7 (SCA7) and Huntington's disease (HD). PMID: 22917585
21. The results of this study demonstrated that oxidative stress contributes to ATXN7 aggregation as well as toxicity. PMID: 22827889
22. ATXN7 distribution frequently shifts from the nucleus to the cytoplasm; cytoplasmic ATXN7 associates with microtubules (MTs); expression of ATXN7 stabilizes MTs; findings provide a novel physiological function of ATXN7 in regulation of cytoskeletal dynamics and suggest that abnormal cytoskeletal regulation may contribute to SCA7 disease pathology PMID: 22100762
23. The results of this study indicated that SCA7 disease pathogenesis involves a convergence of alterations in a variety of different cell types to fully recapitulate the cerebellar degeneration. PMID: 22072678
24. The Trinucleotide Repeat Expansion mutation in ATXN7 related to Spinocerebellar ataxia type 7. PMID: 21827908
25. The interaction between APLP2 and ataxin-7 and proteolytic processing of APLP2 may contribute to the pathogenesis of spinocerebellar ataxia type 7. PMID: 20732423
26. identified 118 protein interactions for CACNA1A and ATXN7 linking them to other ataxia-causing proteins and the ataxia network; ataxia network is significantly enriched for proteins that interact with known macular degeneration-causing proteins PMID: 21078624
27. In response to polyglutamine toxicity, transgenic murine SCA7 rods go through a range of radically different cell fates correlating with the nature, level and ratio of mutant transgene ATXN7 species. PMID: 20600911
28. The solution structures of the SCA7 domain of both ATXN7 and ATXN7L3 reveal a new, common zinc-finger motif at the heart of two distinct folds, providing a molecular basis for the observed functional differences. PMID: 20634802
29. This study suggested that the SCA7 gene alternation in SCA7 patient in Chinese Han family. PMID: 20739808
30. These results demonstrate an influence of SUMOylation on the multistep aggregation process of ATXN7 and implicate a role for ATXN7 SUMOylation in SCA7 pathogenesis. PMID: 19843541
31. analysis of RNA hairpins selective for silencing the mutant ataxin-7 transcript PMID: 19789634
32. CAG expansion in SCA7 locus is associated with Machado-Joseph disease PMID: 11697524
33. Activated caspase-3 was recruited into the inclusions in both the cell models and human SCA7 brain and its expression was upregulated in cortical neurones. PMID: 11709544
34. Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals PMID: 12070661
35. identification of a novel ataxin-7 protein enriched in the central nervous system suggests that expression of multiple polyglutamine-containing proteins may play a role in the neurodegeneration patterns characteristic of SCA7 PMID: 12533095
36. Demonstrate here that ataxin-7 is the human orthologue of the yeast SAGA SGF73 subunit and is a bona fide subunit of the human TFTC-like transcriptional complexes. PMID: 15115762
37. This patient with Spinocerebellar Ataxia 7 due to unique instability of the CAG repeat. PMID: 15316811
38. Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration in Spinocerebellar ataxia type 7. PMID: 15932940
39. We show that transcription mediated by both CBP and RORalpha1 was repressed by expanded ataxin-7. Ataxin-7 may act as a repressor of transcription by inhibiting the acetylation activity of TFTC and STAGA. PMID: 15936949
40. Ataxin-90A aggregates differed morphologically from ataxin7 - 100Q aggregatesand were more toxic to mesencephalic neurons, suggesting that toxicity was determined by the type of aggregate rather than the cellular misfolding response. PMID: 16325416
41. Trinucleotide repeat expansions of ataxin 7 may be involved in neurodegenerative diseases such as cerebellar ataxia. PMID: 16962040
42. Origin of the SCA7 gene mutation in South Africa and the possibility of a founder effect in the Black population PMID: 17026624
43. Massive SCA7 expansion detected in a 7-month-old male with hypotonia, cardiomegaly, and renal failure. PMID: 17254003
44. We present a pediatric patient with 13 and 70 trinucleotide CAG repeats within SCA7 gene and no family history, whose presentation mimicked Kearns-Sayre syndrome (KSS). PMID: 17720198
45. expanded CAG-repeats in the SCA7 gene within members of a large Chinese family with spinocerebellar ataxia PMID: 18325672
46. The patients with genetically confirmed SCA 7 presented an early macular dysfunction, preceding any signs of abnormalities in fundus appearance PMID: 19172503
47. Ataxin-7 is the human orthologue of SGF73, which is a subunit of the yeast SAGA complex, a coactivator required for transcription of a subset of RNA Pol II-dependent genes. Ataxin-7 is a new subunit of the mammalian SAGA-like complexes, TFTC/STAGA. PMID: 15115762

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HGNC: 10560

OMIM: 164500

KEGG: hsa:6314

STRING: 9606.ENSP00000381590

UniGene: Hs.476595