Property Summary

NCBI Gene PubMed Count 13
PubMed Score 0.00
PubTator Score 5.70

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (1)

Disease Z-score Confidence
SPINOCEREBELLAR ATAXIA 8 2

Gene RIF (8)

PMID Text
22577844 suggest that ATXN8 -62 G/A polymorphism plays a role in Taiwanese Parkinson's disease susceptibility
22297462 This study identified only one patient with an SCA8 expansion in Greek patients with Huntington's disease.
22053702 Report a fluorescent PCR method for detection of expanded repeats in the ATXN8OS/ATXN8 gene in spinocerebellar ataxia type 8.
21827909 The spinocerebellar ataxia type 8 is caused by Trinucleotide Repeat Expansion in ataxin 8 protein.
19259763 Observational study of gene-disease association. (HuGE Navigator)
19229559 Observational study of gene-disease association. (HuGE Navigator)
19203395 CUG-repeat expansion is toxic and affects ATXN8 RNA expression and stability through epigenetic and post-transcriptional. mechanisms.
16804541 expression of noncoding (CUG)n expansion transcripts (ataxin 8 opposite strand, ATXN8OS) and the discovery of intranuclear polyglutamine inclusions suggests SCA8 pathogenesis involves toxic gain-of-function mechanisms at both the protein and RNA levels

AA Sequence

MQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQ      1 - 70
QQQQQQQQQQ                                                                 71 - 80
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Text Mined References (11)

PMID Year Title
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
22577844 2012 ATXN8 -62 G/A promoter polymorphism and risk of Taiwanese Parkinson's disease.
22297462 2012 Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion.
22053702 2011 Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay.
21827909 2012 Clinical and genetic features of spinocerebellar ataxia type 8.
19714377 2010 Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).
19259763 2009 The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study.
19229559 2009 SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications.
19203395 2009 Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci.
18418692 2008 Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes.
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