High-throughput screening assays to identify small molecules preventing photoreceptor degeneration caused by the rhodopsin P23H mutation

Methods in Molecular Biology

Volumn 1271, Issue , 2015, Pages 369-390

  Chen, Yuanyuan ^a   Tang, Hong ^a  

^a NONE

Author keywords

Drug discovery; High throughput screen; P23H rhodopsin; Retinitis pigmentosa

Indexed keywords

CHAPERONE; HISTIDINE; OPSIN; PROLINE; RECOMBINANT PROTEIN; RENILLA RENIFORMIS LUCIFERASE; RHODOPSIN; SCOTOPSIN; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; ANALYTIC METHOD; ARTICLE; CELL GROWTH; CELL MEMBRANE; CONTROLLED STUDY; DOSE RESPONSE; ENDOPLASMIC RETICULUM; GENE EXPRESSION; GENE MUTATION; GENE TRANSLOCATION; HIGH THROUGHPUT SCREENING; HILL REACTION; HUMAN; HUMAN CELL; MOLECULE; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RETINITIS PIGMENTOSA; STRUCTURE ACTIVITY RELATION; U2OS CELL LINE; VISION; WILD TYPE; CHEMISTRY; GENETICS; METABOLISM; MUTATION; PROCEDURES; TUMOR CELL LINE;

MAMMALIA;

CELL LINE, TUMOR; HIGH-THROUGHPUT SCREENING ASSAYS; HUMANS; MUTATION; OPSINS; RETINITIS PIGMENTOSA; RHODOPSIN;

EID: 84923644525     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4939-2330-4_24     Document Type: Article

References (31)

1. Persidis A (1998) High-throughput screening. Advances in robotics and miniturization continue to accelerate drug lead identification. Nat Biotechnol 16:488–489
2. Carnero A (2006) High throughput screening in drug discovery. Clin Transl Oncol 8:482–490
3. Macarron R, Banks MN, Bojanic D et al (2011) Impact of high-throughput screening in biomedical research. Nat Rev Drug Discov 10: 188–195
4. Zoete V, Grosdidier A, Michielin O (2009) Docking, virtual high throughput screening and in silico fragment-based drug design. J Cell Mol Med 13:238–248
5. Caliandro R, Belviso DB, Aresta BM et al (2013) Protein crystallography and fragment-based drug design. Future Med Chem 5:1121–1140
6. Hoelder S, Clarke PA, Workman P (2012) Discovery of small molecule cancer drugs: successes, challenges and opportunities. Mol Oncol 6:155–176
7. Daiger SP, Bowne SJ, Sullivan LS (2007) Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 125: 151–158
8. Hartong DT, Berson EL, Dryja TP (2006) Retinitis pigmentosa. Lancet 368:1795–1809
9. Gorbatyuk MS, Gorbatyuk OS, LaVail MM et al (2012) Functional rescue of P23H rhodopsin photoreceptors by gene delivery. Adv Exp Med Biol 723:191–197
10. Gorbatyuk MS, Knox T, LaVail MM et al (2010) Restoration of visual function in P23H rhodopsin transgenic rats by gene delivery of BiP/Grp 78. Proc Natl Acad Sci U S A 107: 5961–5966
11. Aguila M, Bevilacqua D, McCulley C et al (2014) Hsp90 inhibition protects against inherited retinal degeneration. Hum Mol Genet 23:2164–2175
12. Fernandez-Sanchez L, Lax P, Esquiva G et al (2012) Safranal, a saffron constituent, attenuates retinal degeneration in P23H rats. PLoS One 7:e43074
13. Vasireddy V, Chavali VR, Joseph VT et al (2011) Rescue of photoreceptor degeneration by curcumin in transgenic rats with P23H rhodopsin mutation. PLoS One 6:e21193
14. Fernandez-Sanchez L, Lax P, Pinilla I et al (2011) Tauroursodeoxycholic acid prevents retinal degeneration in transgenic P23H rats. Invest Ophthalmol Vis Sci 52:4998–5008
15. Rossmiller B, Mao H, Lewin AS (2012) Gene therapy in animal models of autosomal dominant retinitis pigmentosa. Mol Vis 18: 2479–2496
16. Wert KJ, Davis RJ, Sancho-Pelluz J et al (2013) Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa. Hum Mol Genet 22:558–567
17. Petrs-Silva H, Linden R (2014) Advances in gene therapy technologies to treat retinitis pigmentosa. Clin Ophthalmol 8:127–136
18. Kaushal S (2006) Effect of rapamycin on the fate of P23H opsin associated with retinitis pigmentosa (an American Ophthalmological Society thesis). Trans Am Ophthalmol Soc 104:517–529
19. Noorwez SM, Malhotra R, McDowell JH et al (2004) Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H. J Biol Chem 279:16278–16284
20. Noorwez SM, Kuksa V, Imanishi Y et al (2003) Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa. J Biol Chem 278: 14442–14450
21. Chen Y, Jastrzebska B, Cao P et al (2014) Inherent instability of the retinitis pigmentosa P23H mutant opsin. J Biol Chem 289:9288–9303
22. Sung CH, Schneider BG, Agarwal N et al (1991) Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A 88:8840–8844
23. Kaushal S, Khorana HG (1994) Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa. Biochemistry 33:6121–6128
24. Lin JH, Li H, Yasumura D et al (2007) IRE1 signaling affects cell fate during the unfolded protein response. Science 318:944–949
25. Mendes HF, van der Spuy J, Chapple JP et al (2005) Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy. Trends Mol Med 11:177–185
26. Saliba RS, Munro PM, Luthert PJ et al (2002) The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation. J Cell Sci 115:2907–2918
27. Sakami S, Kolesnikov AV, Kefalov VJ et al (2014) P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis. Hum Mol Genet 23:1723–1741
28. Sakami S, Maeda T, Bereta G et al (2011) Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations. J Biol Chem 286:10551–10567
29. Haeri M, Knox BE (2012) Rhodopsin mutant P23H destabilizes rod photoreceptor disk membranes. PLoS One 7:e30101
30. Zhang JH, Chung TD, Oldenburg KR (1999) A simple statistical parameter for use in evaluation and validation of high throughput screening assays. J Biomol Screen 4: 67–73
31. Auld DS, Southall NT, Jadhav A et al (2008) Characterization of chemical libraries for luciferase inhibitory activity. J Med Chem 51: 2372–2386