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1. Introduction
2. Anatomy of the eye and retina
3. Retinal degenerations
4. Retinitis pigmentosa
5. Retinitis pigmentosa: symptoms
6. Retinitis pigmentosa: normal vs. P23H mutation
7. Rod photoreceptor
8. Protein conformational disorders (1)
9. Protein conformational disorders (2)
10. Model for disease
11. Why study mutant opsin?
12. Methods
13. 2D structure of rhodopsin
14. Phenotypes of class I
15. Class I mutants
16. Phenotypes of class II
17. Class II mutants
18. Phenotypes of class III
19. Class III mutants
20. P23H rhodopsin is misfolded
21. P23H opsin forms aggregates in cells
22. Pharmacological chaperones
23. Retinoid rescue of misfolded P23H
24. Localization of rescued P23H
25. Can small molecules slow retinal degeneration?
26. Treatment slow retinal degeneration in P23H mice
27. Treatment slows rod cell loss in P23H mice
28. Cones are also preserved
29. Conclusions
30. Acknowledgements

Topics Covered

• Anatomy of the eye and retina
• Retinal degenerations
• Retinitis pigmentosa
• Protein conformational disorders
• Model for disease
• The study of mutant opsin
• Structure of rhodopsin
• Phenotypes
• Class I, Class II and Class III mutants
• Pharmacological chaperones
• Can small molecules slow retinal degeneration in mouse models?

Links

Series:

• Protein Epidemiology

Categories:

• Biochemistry
• Cell Biology
• Clinical Practice

Therapeutic Areas:

• Ophthalmology

Talk Citation

Publication History

• Published on October 1, 2007
• Archived on June 8, 2016

Financial Disclosures

• Dr. Shalesh Kaushal has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.