ATXN10 Antibody

1. The 19-CGGC-14 shared haplotype was found in 47% of Brazilian and in 63% of Peruvian families. Frequencies from both are statistically different from Brazilian controls but not Quechua controls. The most frequent haplotype in Quechuas, 19-15-CGGC-14-10, is found in 50% of Brazilian and in 65% of Peruvian patients. The ATTCT expansion may have arisen in a Native American chromosome. PMID: 28905220
2. Polymorphism in ATXN10 gene is associated with spinocerebellar ataxia type 10. PMID: 28542277
3. Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 expansions of ataxin-10 has been reported. PMID: 28423040
4. Single molecule real time sequencing of long tandem nucleotide repeats in spinocerebellar ataxia ATXN10 reveals unique insight of repeat expansion structure in three unrelated patients. PMID: 26295943
5. This is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 and SCA10 phenotype. PMID: 25630585
6. Inhibition of Aurora B or expression of the S12A mutant renders reduced interaction between Ataxin-10 and polo-like kinase 1 (Plk1), a kinase previously identified to regulate Ataxin-10 in cytokinesis. PMID: 25666058
7. Data suggest precursor mRNA for SCA10 (crystalized using two model AUUCU SCA10 repeats) exhibits the following conformation: the two asymmetric RNA molecules are antiparallel to each other and the interaction is stabilized by multiple hydrogen bonds. PMID: 26039897
8. the presence of repeat interruptions in SCA10 repeat expansion may have a role in epilepsy phenotype PMID: 24318420
9. The SCA10 pentanucleotide repeat expansion was not found among a group of Cypriot ataxia patients. All had 10-19 ATTCT repeats. Controls had 11-20 repeats, with 14 being the most common number. PMID: 23026538
10. Plk1 phosphorylates Ataxin-10 on Ser 77 and Thr 82. PMID: 21857149
11. The expansion of the attct repeat in intron 9 of atxn10 is may caused Spinocerebellar ataxia type 10. PMID: 21827910
12. Network building strategy led to the proposal of candidates for new ciliopathy disease genes, leading to the identification of the first human mutations in the Nephronophthisis gene Ataxin10 (ATXN10) and Joubert syndrome gene Tectonic2 (TCTN2). PMID: 21565611
13. suggesting that the loss of function of hnRNP K plays a key role in cell death of SCA10. PMID: 20548952
14. Data suggest that SCA10 could be related to chromatin structure abnormalities caused by the expansion and not to an abnormal or abnormally expressed ATXN10. PMID: 19936807
15. frequency of SCA10 in spinocerebellar ataxia in France PMID: 11891842
16. Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10 suggest that the purity of the expanded repeat element may be a disease modifier. PMID: 16385455
17. These results implicate replication origin activity as one molecular mechanism associated with the instability of ataxin 10(ATTCT)n tracts that are longer than normal length. PMID: 17846122
18. cause Spinocerebellar ataxia type 10 by expansion of the ATTCT pentanucleotide repeat in intron 9 of the gene PMID: 18386626
19. The normal reference standard for ATXN10 gene's ATTCT pentanucleotide repeat of 9-32 is verified in the Chinese Han group. PMID: 19147916
20. Nucleosome formation on pure and interrupted ATTCT pentanucleotides associated with spinocerebellar ataxia type 10 (SCA10), is reported. PMID: 19171184
21. evidence for an ancestral common origin for SCA10 in Latin America, which might have arisen in an ancestral Amerindian population and later have been spread into the mixed populations of Mexico and Brazil. PMID: 19234597
22. Ataxin 10 and eukaryotic initiation factors interacts with M2 protein of influenza A virus. PMID: 19835171

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HGNC: 10549

OMIM: 603516

KEGG: hsa:25814

STRING: 9606.ENSP00000252934

UniGene: Hs.475125