disease 1,831 words KG: ent-dise-20c615ec 2026-03-24
kind:diseasesection:diseasesstate:published
Contents

Spinocerebellar Ataxia Type 10

Disease Info
GeneATXN10 (Ataxin-10)
Chromosome12q24.31
Normal repeat5-55 ATTCT repeats
Pathogenic repeat800-4,500 ATTCT repeats
Intermediate55-850 repeats (reduced penetrance)
Protein size473 amino acids
Subcellular localizationCytoplasmic, nucleus
Tissue expressionBrain (cerebellum), peripheral tissues
Normal functionMitochondrial function, neuronal survival
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (15)

Digital Twin-Guided Metabolic Reprogramming
Score: 0.61
Senescent Cell Mitochondrial DNA Release
Score: 0.54
GFAP-Positive Reactive Astrocyte Subtype Delineation
Score: 0.52
Near-infrared light therapy stimulates COX4-dependent mitoch
Score: 0.51
Perforant Path Presynaptic Terminal Protection Strategy
Score: 0.48

Related Analyses (4)

SEA-AD Gene Expression Profiling — Allen Brain Cell Atlas
neurodegeneration · completed
Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Protein aggregation cross-seeding across neurodegenerative d
neurodegeneration · archived
Metabolic reprogramming in neurodegenerative disease
neurodegeneration · completed

Related Experiments (2)

ER-Golgi Secretory Pathway Dysfunction in PD - Experiment De
clinical · proposed · Score: 0.40
CRISPR Gene Correction Approaches for CBS/PSP
clinical · proposed · Score: 0.40