| Extended haplotype with rs41524547-G defines the ancestral origin of SCA10. | Extended haplotype with rs41524547-G defines the ancestral origin of SCA10.
McFarland KN, Tiwari A, Hashem V, Zhang L, Zeng D, Vincent J, Arredondo MJ, Johnson KL, Gan SR, Yabe I, Skov L, Rasmussen A, Ashizawa T. | 10/25/2024 |
| The most common clinical presentation of SCA10 in Brazilian families was pure cerebellar ataxia. | Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families.
Domingues BMD, Nascimento FA, Meira AT, Moro A, Raskin S, Ashizawa T, Teive HAG. | 03/7/2020 |
| ATXN10 allele distribution in a healthy Amerindian population from Peru does not differ from that of other populations. | ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population.
Véliz-Otani D, Inca-Martinez M, Bampi GB, Ortega O, Jardim LB, Saraiva-Pereira ML, Mazzetti P, Cornejo-Olivas M. | 03/7/2020 |
| Ataxin-10 is involved in Golgi membrane dynamics | Ataxin-10 is involved in Golgi membrane dynamics.
Tian J, Shi Y, Nai S, Geng Q, Zhang L, Wei GH, Xu X, Li J. | 03/2/2019 |
| 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. | Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation.
Bampi GB, Bisso-Machado R, Hünemeier T, Gheno TC, Furtado GV, Veliz-Otani D, Cornejo-Olivas M, Mazzeti P, Bortolini MC, Jardim LB, Saraiva-Pereira ML, Rede Neurogenetica. | 07/21/2018 |
| Polymorphism in ATXN10 gene is associated with spinocerebellar ataxia type 10. | First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China.
Naito H, Takahashi T, Kamada M, Morino H, Yoshino H, Hattori N, Maruyama H, Kawakami H, Matsumoto M., Free PMC Article | 10/7/2017 |
| Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 expansions of ataxin-10 has been reported. | Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions.
Landrian I, McFarland KN, Liu J, Mulligan CJ, Rasmussen A, Ashizawa T., Free PMC Article | 04/29/2017 |
| 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. | SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure.
McFarland KN, Liu J, Landrian I, Godiska R, Shanker S, Yu F, Farmerie WG, Ashizawa T., Free PMC Article | 05/14/2016 |
| This is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 and SCA10 phenotype. | Bolivian kindred with combined spinocerebellar ataxia types 2 and 10.
Baizabal-Carvallo JF, Xia G, Botros P, Laguna J, Ashizawa T, Jankovic J., Free PMC Article | 02/6/2016 |
| 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. | Aurora B-dependent phosphorylation of Ataxin-10 promotes the interaction between Ataxin-10 and Plk1 in cytokinesis.
Tian J, Tian C, Ding Y, Li Z, Geng Q, Xiahou Z, Wang J, Hou W, Liao J, Dong MQ, Xu X, Li J., Free PMC Article | 02/6/2016 |
| 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. | Crystallographic and Computational Analyses of AUUCU Repeating RNA That Causes Spinocerebellar Ataxia Type 10 (SCA10).
Park H, González ÀL, Yildirim I, Tran T, Lohman JR, Fang P, Guo M, Disney MD., Free PMC Article | 09/12/2015 |
| the presence of repeat interruptions in SCA10 repeat expansion may have a role in epilepsy phenotype | Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures.
McFarland KN, Liu J, Landrian I, Zeng D, Raskin S, Moscovich M, Gatto EM, Ochoa A, Teive HA, Rasmussen A, Ashizawa T., Free PMC Article | 09/13/2014 |
| 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. | Investigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations.
Votsi C, Zamba-Papanicolaou E, Georghiou A, Kyriakides T, Papacostas S, Kleopa KA, Pantzaris M, Christodoulou K. | 04/20/2013 |
| Plk1 phosphorylates Ataxin-10 on Ser 77 and Thr 82. | Phosphorylation of Ataxin-10 by polo-like kinase 1 is required for cytokinesis.
Li J, Wang J, Hou W, Jing Z, Tian C, Han Y, Liao J, Dong MQ, Xu X. | 03/24/2012 |
| The expansion of the attct repeat in intron 9 of atxn10 is may caused Spinocerebellar ataxia type 10. | Spinocerebellar ataxia type 10.
Ashizawa T., Free PMC Article | 12/10/2011 |
| 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). | Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK., Free PMC Article | 07/23/2011 |
| suggesting that the loss of function of hnRNP K plays a key role in cell death of SCA10. | Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10.
White MC, Gao R, Xu W, Mandal SM, Lim JG, Hazra TK, Wakamiya M, Edwards SF, Raskin S, Teive HA, Zoghbi HY, Sarkar PS, Ashizawa T., Free PMC Article | 10/4/2010 |
| Data suggest that SCA10 could be related to chromatin structure abnormalities caused by the expansion and not to an abnormal or abnormally expressed ATXN10. | Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.
Keren B, Jacquette A, Depienne C, Leite P, Durr A, Carpentier W, Benyahia B, Ponsot G, Soubrier F, Brice A, Héron D. | 07/19/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Ataxin 10 and eukaryotic initiation factors interacts with M2 protein of influenza A virus. | [Screening cellular proteins interacted with M2 protein of influenza A virus by coimmunoprecipitation].
Li Y, Guan Z, Yan J. | 01/21/2010 |
| 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. | Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10).
Almeida T, Alonso I, Martins S, Ramos EM, Azevedo L, Ohno K, Amorim A, Saraiva-Pereira ML, Jardim LB, Matsuura T, Sequeiros J, Silveira I., Free PMC Article | 01/21/2010 |
| The normal reference standard for ATXN10 gene's ATTCT pentanucleotide repeat of 9-32 is verified in the Chinese Han group. | Lack of variation of ATTCT pentanucleotide repeats at ATXN10 gene between clinically diagnosed ataxia patients and normal individuals originated from Chinese Han.
Wang JL, Jiang H, Zhang S, Xu Q, Zhou YF, Liao SS, Shen L, Yan XX, Zhu HX, Pan Q, Xia K, Tang BS. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study.
Wardle M, Majounie E, Muzaimi MB, Williams NM, Morris HR, Robertson NP. | 03/25/2009 |
| Nucleosome formation on pure and interrupted ATTCT pentanucleotides associated with spinocerebellar ataxia type 10 (SCA10), is reported. | The ATTCT repeats of spinocerebellar ataxia type 10 display strong nucleosome assembly which is enhanced by repeat interruptions.
Hagerman KA, Ruan H, Edamura KN, Matsuura T, Pearson CE, Wang YH. | 01/21/2010 |
| cause Spinocerebellar ataxia type 10 by expansion of the ATTCT pentanucleotide repeat in intron 9 of the gene | [Molecular and genetic analysis of spinocerebellar ataxia type 10 (SCA10)].
Matsuura T. | 01/21/2010 |