- ATXN8OS
Ataxin 8 opposite strand, also known as ATXN8OS, is a human
gene .cite web | title = Entrez Gene: ATXN8OS ataxin 8 opposite strand| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6315| accessdate = ]PBB_Summary
section_title =
summary_text = SCA8 is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A CTG trinucleotide repeat expansion that is incorporated into the SCA8 but not the KLHL1 transcript causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript.cite web | title = Entrez Gene: ATXN8OS ataxin 8 opposite strand| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6315| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Koob MD, Moseley ML, Schut LJ, "et al." |title=An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) |journal=Nat. Genet. |volume=21 |issue= 4 |pages= 379–84 |year= 1999 |pmid= 10192387 |doi= 10.1038/7710
*cite journal | author=Nemes JP, Benzow KA, Moseley ML, "et al." |title=The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). |journal=Hum. Mol. Genet. |volume=9 |issue= 10 |pages= 1543–51 |year= 2000 |pmid= 10888605 |doi=
*cite journal | author=Jardim LB, Silveira I, Pereira ML, "et al." |title=A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. |journal=J. Neurol. |volume=248 |issue= 10 |pages= 870–6 |year= 2002 |pmid= 11697524 |doi=
*cite journal | author=Benzow KA, Koob MD |title=The KLHL1-antisense transcript ( KLHL1AS) is evolutionarily conserved. |journal=Mamm. Genome |volume=13 |issue= 3 |pages= 134–41 |year= 2002 |pmid= 11919683 |doi= 10.1007/s00335-001-2105-2
*cite journal | author=Brusco A, Cagnoli C, Franco A, "et al." |title=Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. |journal=J. Neurol. |volume=249 |issue= 7 |pages= 923–9 |year= 2002 |pmid= 12140678 |doi= 10.1007/s00415-002-0760-y
*cite journal | author=Andrés AM, Soldevila M, Saitou N, "et al." |title=Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes. |journal=Neurosci. Lett. |volume=336 |issue= 3 |pages= 143–6 |year= 2003 |pmid= 12505613 |doi=
*cite journal | author=Wu YR, Lin HY, Chen CM, "et al." |title=Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. |journal=Clin. Genet. |volume=65 |issue= 3 |pages= 209–14 |year= 2004 |pmid= 14756671 |doi=
*cite journal | author=Sułek A, Hoffman-Zacharska D, Bednarska-Makaruk M, "et al." |title=Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group. |journal=J. Appl. Genet. |volume=45 |issue= 1 |pages= 101–5 |year= 2004 |pmid= 14960773 |doi=
*cite journal | author=Ikeda Y, Dalton JC, Moseley ML, "et al." |title=Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. |journal=Am. J. Hum. Genet. |volume=75 |issue= 1 |pages= 3–16 |year= 2004 |pmid= 15152344 |doi= 10.1086/422014
*cite journal | author=Factor SA, Qian J, Lava NS, "et al." |title=False-positive SCA8 gene test in a patient with pathologically proven multiple system atrophy. |journal=Ann. Neurol. |volume=57 |issue= 3 |pages= 462–3 |year= 2005 |pmid= 15732096 |doi= 10.1002/ana.20389
*cite journal | author=Moseley ML, Zu T, Ikeda Y, "et al." |title=Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. |journal=Nat. Genet. |volume=38 |issue= 7 |pages= 758–69 |year= 2006 |pmid= 16804541 |doi= 10.1038/ng1827PBB_Controls
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