ATXN8

Understanding Entity Pages

This page aggregates everything SciDEX knows about ATXN8: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

Summary

Page for ATXN8 Gene

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graph TD
    ATXN8["ATXN8 gene"]
    ATXN8OS["ATXN8OS antisense transcript"]
    polyQ_expansion["Polyglutamine expansion"]
    RNA_toxicity["RNA toxicity"]
    protein_aggregation["Protein aggregation"]
    SCA8["Spinocerebellar ataxia 8"]
    cerebellar_degeneration["Cerebellar degeneration"]
    Purkinje_loss["Purkinje cell loss"]
    motor_dysfunction["Motor dysfunction"]
    transcriptional_dysregulation["Transcriptional dysregulation"]
    splicing_defects["RNA splicing defects"]
    neurodegeneration["Neurodegeneration"]
    cellular_stress["Cellular stress response"]
    autophagy_impairment["Autophagy impairment"]

    ATXN8 -->|"transcribes"| ATXN8OS
    ATXN8 -->|"contains"| polyQ_expansion
    polyQ_expansion -->|"causes"| protein_aggregation
    ATXN8OS -->|"causes"| RNA_toxicity
    RNA_toxicity -->|"leads to"| splicing_defects
    RNA_toxicity -->|"triggers"| transcriptional_dysregulation
    protein_aggregation -->|"activates"| cellular_stress
    protein_aggregation -->|"impairs"| autophagy_impairment
    splicing_defects -->|"contributes to"| SCA8
    transcriptional_dysregulation -->|"promotes"| cerebellar_degeneration
    cerebellar_degeneration -->|"causes"| Purkinje_loss
    Purkinje_loss -->|"results in"| motor_dysfunction
    SCA8 -->|"manifests as"| neurodegeneration
    cellular_stress -->|"accelerates"| neurodegeneration

    classDef central fill:#1a3a4a,stroke:#4fc3f7,color:#fff
    classDef pathological fill:#3a1a1a,stroke:#ef5350,color:#fff
    classDef disease fill:#3a2a1a,stroke:#ffa726,color:#fff
    classDef protective fill:#1a3a2a,stroke:#81c784,color:#fff

    class ATXN8 central
    class polyQ_expansion,RNA_toxicity,protein_aggregation,cerebellar_degeneration,Purkinje_loss,transcriptional_dysregulation,splicing_defects,cellular_stress,autophagy_impairment pathological
    class SCA8,motor_dysfunction,neurodegeneration disease
    class ATXN8OS protective