disease 1,831 words KG: ent-dise-20c615ec
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

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Related Hypotheses (15)

GFAP-Positive Reactive Astrocyte Subtype Delineation
Score: 0.75
Senescent Cell Mitochondrial DNA Release
Score: 0.74
Near-infrared light therapy stimulates COX4-dependent mitoch
Score: 0.74
TFAM overexpression creates mitochondrial donor-recipient gr
Score: 0.73
Perforant Path Presynaptic Terminal Protection Strategy
Score: 0.70
Axonal RNA Transport Reconstitution
Score: 0.70
Mitochondrial Transfer Pathway Enhancement
Score: 0.70
RAB27A-dependent extracellular vesicle engineering for mitoc
Score: 0.67
GAP43-mediated tunneling nanotube stabilization enhances neu
Score: 0.67
Mitochondrial RNA Granule Rescue Pathway
Score: 0.66
Mitochondrial SPM Synthesis Platform Engineering
Score: 0.65
Serine/Arginine-Rich Protein Kinase Modulation
Score: 0.62
Designer TRAK1-KIF5 fusion proteins accelerate therapeutic m
Score: 0.62
CX43 hemichannel engineering enables size-selective mitochon
Score: 0.57
Digital Twin-Guided Metabolic Reprogramming
Score: 0.55

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 · completed
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

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