Supplementary Materials

The PDF file includes:

  • Materials and Methods
  • Fig. S1. Screening of candidate Ataxin-7 ASOs.
  • Fig. S2. Validation of IVI for ASO knockdown in neural retina.
  • Fig. S3. Design of preclinical prevention trial.
  • Fig. S4. Ataxin-7 ASO treatment reduces polyQ-expanded Ataxin-7 protein and normal Ataxin-7 protein in the retinas of SCA7 266Q knock-in mice.
  • Fig. S5. Ataxin-7 ASO treatment does not impair visual function in control mice.
  • Fig. S6. Ataxin-7 ASO treatment does not affect regulation of genes whose expression is not altered in SCA7 retinal degeneration.
  • Fig. S7. Screening of CAG-ASO leads for potency of knockdown of polyQ-expanded ATAXIN-7 in SCA7 patient fibroblasts.
  • Fig. S8. CAG repeat–targeting ASO does not reduce normal Ataxin-7 protein and achieves only modest knockdown of aggregated polyQ-expanded Ataxin-7 protein.
  • Fig. S9. Derivation and characterization of the SCA7 r210 knock-in mouse model.
  • Fig. S10. Progression of cone photoreceptor degeneration in SCA7 r210 mice.
  • Fig. S11. Progression of rod photoreceptor degeneration in SCA7 r210 mice.
  • Fig. S12. Cone and rod photoreceptor function in wild-type control mice up to 25 weeks of age.
  • Fig. S13. SCA7 r210 mice display visual function impairment at 9 weeks of age.
  • Fig. S14. Design of the preclinical intervention trial.
  • Fig. S15. Ataxin-7 ASO treatment yields no improvements in retinal layer thickness and gene expression in SCA7 r210 mice.
  • Fig. S16. Ataxin-7 ASO yields sustained improvement in rod photoreceptor visual function in SCA7 r210 mice.
  • Table S1. Primer and probe sequences for real-time PCR analysis of Ataxin-7 RNA expression for oligonucleotide screening.
  • Table S2. Primers and probe set ordering information for RT-PCR analysis of retinal genes.
  • Table S3. Primer sets for real-time DNA PCR analysis of retinal target genes in ChIP assays.
  • Legend for table S4
  • References (40–44)

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Other Supplementary Material for this manuscript includes the following: