| Related LncRNAs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| ID | lncRNA Name | Disease | Method | Sample | Expression pattern | Dysfunction type | Description | PMID | Source |
| EL0216 | ATXN8OS | spinocerebellar ataxia type 8 | N/A | N/A | N/A | locus | Patients show a trinucleotide (CUG) expansion in a noncoding RNA termed ataxin 8 opposite strand (ATXN8OS), an antisense transcript to the KLHL1 gene. | 16804541 | LncRNADisease |
| EL0216 | ATXN8OS | spinocerebellar ataxia type 8 | N/A | N/A | N/A | mutation | The low prevalence of SCA8 seems to be correlated with the low frequency of large (CTA/CTG)n copy number alleles in Chinese population. | 18841561 | LncRNADisease |
| EL0216 | ATXN8OS | spinocerebellar ataxia type 8 | N/A | N/A | N/A | expression | Spinocerebellar ataxia type 8 (SCA8) involves bidirectional expression of CUG (ATXN8OS) and CAG (ATXN8) expansion transcripts. | 19229559 | LncRNADisease |
| EL0216 | ATXN8OS | spinocerebellar ataxia type 8 | N/A | N/A | N/A | expression | RNA gain-of-function plays a significant role in SCA8: 1) CUG(exp) transcripts accumulate as ribonuclear inclusions that co-localize with MBNL1 in selected neurons in the brain. | 19680539 | LncRNADisease |
| EL0216 | ATXN8OS | spinocerebellar ataxia type 8 | N/A | N/A | N/A | mutation | The ATXN8OS (CTA)n(CTG)n composite repeat expansion is transmitted in an autosomal dominant manner with reduced penetrance. | 20301445 | LncRNADisease |
| EL0216 | ATXN8OS | Spinocerebellar ataxia type 8 | N/A | N/A | N/A | Interaction | ATXN8OS transcript contributes to SCA8 pathogenesis by altering the activity of MBNL/CELF alternative splicing proteins. | 20380817 | LncRNADisease |
| EL0216 | ATXN8OS | Spinocerebellar ataxia type 8 | N/A | N/A | N/A | mutation | Expansion repeats in the ATXN8OS lncRNA gene are partly responsible for the pathology of spinocerebellar ataxia type 8 through a toxic RNA gain-of-function mechanism that includes formation of ribonuclear inclusions in the cerebellum and deregulation of muscleblind-like splicing regulator 1-mediated alternative splicing | 22814587 | LncRNADisease |
| EL0216 | ATXN8OS | Spinocerebellar ataxia type 8 | N/A | N/A | N/A | mutation | Genetic variation in lncRNA genes causes disease and influences susceptibility | 23791884 | LncRNADisease |