| Long non-coding RNA ATXN8OS promotes ferroptosis and inhibits the temozolomide-resistance of gliomas through the ADAR/GLS2 pathway. | Long non-coding RNA ATXN8OS promotes ferroptosis and inhibits the temozolomide-resistance of gliomas through the ADAR/GLS2 pathway.
Luo J, Bai R, Liu Y, Bi H, Shi X, Qu C. | 07/2/2022 |
| CCG*CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity. | CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.
Perez BA, Shorrock HK, Banez-Coronel M, Zu T, Romano LE, Laboissonniere LA, Reid T, Ikeda Y, Reddy K, Gomez CM, Bird T, Ashizawa T, Schut LJ, Brusco A, Berglund JA, Hasholt LF, Nielsen JE, Subramony SH, Ranum LP., Free PMC Article | 12/4/2021 |
| ATXN8OS acts as a tumour promoter by sequestering miR-204 during the development of breast cancer. | lncRNA ATXN8OS promotes breast cancer by sequestering miR‑204.
Deng Z, Cai H, Lin L, Zhu L, Wu W, Yang S, Cai J, Tan J., Free PMC Article | 01/4/2020 |
| Prevalence of SCA8 tri-nucleotide CTG repeat expansion (CTGexp) was 1.71% among the ataxia subject cohort. On the chromosomal basis, the SCA8 CTGexp was seen in 0.98% of all chromosomes analyzed. Seven out of 14 subjects with the SCA8 CTGexp had other SCAs as well. Three out of 93 SCA6 subjects (3.2%) and 1 out of 72 MJD/SCA3 subjects (1.4%) had SCA8 CTGexp. | Sequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects.
Hu Y, Hashimoto Y, Ishii T, Rayle M, Soga K, Sato N, Okita M, Higashi M, Ozaki K, Mizusawa H, Ishikawa K, Yokota T. | 06/23/2018 |
| the ATXN8OS putative ORF protein could be translatable and may be expressed via a naturally occurring non-AUG start codon. | Internal ribosome entry segment activity of ATXN8 opposite strand RNA.
Chen IC, Lin HY, Hsiao YC, Chen CM, Wu YR, Shiau HC, Shen YF, Huang KS, Su MT, Hsieh-Li HM, Lee-Chen GJ., Free PMC Article | 06/21/2014 |
| SCA8 RNA dysregulate MBNL/CELF regulated pathways in the brain and plays a significant role in spinocerebellar ataxia type 8. | RNA gain-of-function in spinocerebellar ataxia type 8.
Daughters RS, Tuttle DL, Gao W, Ikeda Y, Moseley ML, Ebner TJ, Swanson MS, Ranum LP., Free PMC Article | 01/21/2010 |
| Both toxic protein and RNA of SCA8 contributes to Spinocerebellar Ataxias type 8. | SCA8 CAG/CTG expansions, a tale of two TOXICities: a unique or common case?
Merienne K, Trottier Y., Free PMC Article | 01/21/2010 |
| Molecular genetics of spinocerebellar ataxia type 8. | Molecular genetics of spinocerebellar ataxia type 8 (SCA8).
Mutsuddi M, Rebay I. | 01/21/2010 |
| SCA8 was expressed in human brain, testis, kidney, prostate gland and, as not known previously, in the pancreas; it was also expressed in the testes but not the ovaries. | SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology.
Chen WL, Lin JW, Huang HJ, Wang SM, Su MT, Lee-Chen GJ, Chen CM, Hsieh-Li HM. | 01/21/2010 |
| assessed the SCA8 repeat size ranges in Taiwanese Parkinson's disease, Alzheimer's disease and atypical parkinsonism and investigated the genetic variation modulating ATXN8 expression | SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications.
Wu YR, Chen IC, Soong BW, Kao SH, Lee GC, Huang SY, Fung HC, Lee-Chen GJ, Chen CM. | 01/21/2010 |
| frequency of ATXN8OS (CTA/CTG)n repeat expansion in spinocerebellar ataxia(SCA) patients in Mainland China. | [Studies on the CTA/CTG trinucleotide repeats of ATXN8OS gene in Chinese Hans].
Wang J, Zhang S, Xu Q, Li X, Song X, Jiang H, Shen L, Yan X, Pan Q, Xia K, Tang B, Wang J, Zhang S, Xu Q, Li X, Song X, Jiang H, Shen L, Yan X, Pan Q, Xia K, Tang B. | 01/21/2010 |
| Coexistence of SCA8 repeat expansion with 16q-ADCA may be involved in the pathogenesis and severe symptoms in this family. | Severe symptoms of 16q-ADCA coexisting with SCA8 repeat expansion.
Ohnari K, Aoki M, Uozumi T, Tsuji S. | 01/21/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | See all PubMed (2) articlesMolecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F. Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group.
Sułek A, Hoffman-Zacharska D, Bednarska-Makaruk M, Szirkowiec W, Zaremba J, Sułek A, Hoffman-Zacharska D, Bednarska-Makaruk M, Szirkowiec W, Zaremba J. | 03/13/2008 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (8) articlesScreening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia.
Rajkiewicz M, Sułek-Piatkowska A, Krysa W, Zdzienicka E, Szirkowiec W, Zaremba J. [Studies on the CTA/CTG trinucleotide repeats of ATXN8OS gene in Chinese Hans].
Wang J, Zhang S, Xu Q, Li X, Song X, Jiang H, Shen L, Yan X, Pan Q, Xia K, Tang B, Wang J, Zhang S, Xu Q, Li X, Song X, Jiang H, Shen L, Yan X, Pan Q, Xia K, Tang B. Expanded trinucleotide repeats in the TBP/SCA17 gene mapped to chromosome 6q27 are associated with schizophrenia.
Chen CM, Lane HY, Wu YR, Ro LS, Chen FL, Hung WL, Hou YT, Lin CY, Huang SY, Chen IC, Soong BW, Li ML, Hsieh-Li HM, Su MT, Lee-Chen GJ. Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports.
Zeman A, Stone J, Porteous M, Burns E, Barron L, Warner J. SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6.
Izumi Y, Maruyama H, Oda M, Morino H, Okada T, Ito H, Sasaki I, Tanaka H, Komure O, Udaka F, Nakamura S, Kawakami H. SCA8 in the Spanish population including one homozygous patient.
Tazón B, Badenas C, Jiménez L, Muñoz E, Milà M. Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions.
Brusco A, Cagnoli C, Franco A, Dragone E, Nardacchione A, Grosso E, Mortara P, Mutani R, Migone N, Orsi L, Brusco A, Cagnoli C, Franco A, Dragone E, Nardacchione A, Grosso E, Mortara P, Mutani R, Migone N, Orsi L. Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?
Savić D, Topisirović I, Keckarević M, Keckarević D, Major T, Culjković B, Stojković O, Rakocević-Stojanović V, Mladenović J, Todorović S, Apostolski S, Romac S. | 03/13/2008 |
| Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) | Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy.
Cellini E, Nacmias B, Forleo P, Piacentini S, Guarnieri BM, Serio A, Calabrò A, Renzi D, Sorbi S. | 03/13/2008 |
| Expansion of CTA/CTG repeats in the SCA8 locus was found in 2 of 100 controls and in 5 probands among 150 pedigrees affected with unidentified ataxias. | Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group.
Sułek A, Hoffman-Zacharska D, Bednarska-Makaruk M, Szirkowiec W, Zaremba J, Sułek A, Hoffman-Zacharska D, Bednarska-Makaruk M, Szirkowiec W, Zaremba J. | 01/21/2010 |
| abnormal expansions of an allele in SCA8 and SCA17 genes were detected in patients with both Parkinson's disease and spinocerebellar ataxia | Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.
Wu YR, Lin HY, Chen CM, Gwinn-Hardy K, Ro LS, Wang YC, Li SH, Hwang JC, Fang K, Hsieh-Li HM, Li ML, Tung LC, Su MT, Lu KT, Lee-Chen GJ. | 01/21/2010 |
| CTG expansion in SCA8 locus is associated with Machado-Joseph disease | A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.
Jardim LB, Silveira I, Pereira ML, Ferro A, Alonso I, do Céu Moreira M, Mendonça P, Ferreirinha F, Sequeiros J, Giugliani R. | 01/21/2010 |
| Primate comparison shows human-specific features, with longer human alleles due to a novel variable trinucleotide repeat, not present in non-human primates, which increased the disease-causing expansion likelihood. | Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes.
Andrés AM, Soldevila M, Saitou N, Volpini V, Calafell F, Bertranpetit J. | 01/21/2010 |
| SCA8 gene test in a patient with pathologically proven multiple system atrophy. | False-positive SCA8 gene test in a patient with pathologically proven multiple system atrophy.
Factor SA, Qian J, Lava NS, Hubbard JD, Payami H. | 01/21/2010 |
| Our finding that SCA8 expansions on three independently arising haplotypes are found among patients with ataxia and cosegregate with ataxia when multiple family members are affected | Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.
Ikeda Y, Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, Seltzer WK, Pandolfo M, Milunsky A, Potter NT, Shoji M, Vincent JB, Day JW, Ranum LP., Free PMC Article | 01/21/2010 |
| triplet expansion in SCA8 gene may have pathogenic role in spinocerebellar ataxia | Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions.
Brusco A, Cagnoli C, Franco A, Dragone E, Nardacchione A, Grosso E, Mortara P, Mutani R, Migone N, Orsi L, Brusco A, Cagnoli C, Franco A, Dragone E, Nardacchione A, Grosso E, Mortara P, Mutani R, Migone N, Orsi L. | 01/21/2010 |