Electrophysiology - Preclinical

SUMMARY

Electrophysiology in preclinical models of inherited retinal degenerations including mice [138,127,119,116,110,109,98,89,76,59,42,37], rats [46], chickens [74], pigs [30,22], and dogs [217,206,204,193,176,166,154,126,86,73,71,49,43].

 

31 PUBLICATIONS USING PRECLINICAL ELECTROPHYSIOLOGY

217. Aguirre GD, CIDECIYAN AV, Dufour VL, Garcia AR, Sudharsan R, Swider M, Nikonov R, Iwabe S, Boye SL, Hauswirth WW, Jacobson SG, Beltran WA. Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis. Molecular Therapy, 29:2456-2468, 2021. [PubMed] [DOI]

206. Dufour VLL, CIDECIYAN AV, Ye GJ, Song C, Timmers A, Habecker P, Pan W, Weinstein N, Swider M, Durham A, Ying GS, Robinson P, Jacobson SG, Knop DR, Chulay JD, Shearman MS, Aguirre GD, Beltran WA. Toxicity and efficacy evaluation of an AAV vector expressing codon-optimized RPGR delivered by subretinal injection in a canine model of X-linked retinitis pigmentosa. Human Gene Therapy, 31:253-267, 2020. [PubMed]

204. Gardiner KL, CIDECIYAN AV, Swider M, Dufour VL, Sumaroka A, Komaromy AM, Hauswirth WW, Iwabe S, Jacobson SG, Beltran WA, Aguirre GD. Long-term structural outcomes of late-stage RPE65 gene therapy. Molecular Therapy, 28:266-278, 2020. [PubMed] [Penn Press Release] [EurekAlert]

193. CIDECIYAN AV, Sudharsan R, Dufour VL, Massengill MT, Iwabe S, Swider M, Lisi B, Sumaroka A, Marinho LF, Appelbaum T, Rossmiller B, Hauswirth WW, Jacobson SG, Lewin AS, Aguirre GD, Beltran WA. Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector. Proceedings of the National Academy of Sciences USA, 115:E8547-E8556, 2018. [PubMed] [PDF] [UPenn Press Release] [NEI Press Release] [Philadelphia Inquirer]

176. Beltran WA, CIDECIYAN AV, Boye SE, Ye G-J, Iwabe S, Dufour VL, Marinho LF, Swider M, Kosyk MS, Sha J, Boye SL, Peterson JJ, Witherspoon CD, Alexander JJ, Ying G-S, Shearman MS, Chulay JD, Hauswirth WW, Gamlin PD, Jacobson SG, Aguirre GD. Optimization of retinal gene therapy for X-linked retinitis pigmentosa due to RPGR mutations. Molecular Therapy, 25:1866-1880, 2017. [PubMed]

166. Downs LM, Scott EM, CIDECIYAN AV, Iwabe S, Dufour V, Gardiner KL, Genini S, Marinho LF, Sumaroka A, Kosyk MS, Swider M, Aguirre GK, Jacobson SG, Beltran WA, Aguirre GD. Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.  Human Molecular Genetics 25:4211-4226, 2016. [PubMed]

154. Beltran WA, CIDECIYAN AV, Iwabea S, Swider M, Kosyk MS, McDaida K, Martynyuka I, Ying G-S, Shaffer J, Deng W-T, Boye SL, Lewin AS, Hauswirth WW, Jacobson SG, Aguirre GD. Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease. Proceedings of the National Academy of Sciences USA 112:E5844-53, 2015. [PubMed] [NEI Press Release] [Penn Press Release] [PDF]

138. Boye SE, Huang WC, Roman AJ, Sumaroka A, Boye SL, Ryals RC, Olivares MB, Ruan Q, Tucker BA, Stone EM, Swaroop A, CIDECIYAN AV, Hauswirth WW, Jacobson SG. Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: Determining the timing and expectation of therapy. PLoS One 9:e92928, 2014. [PubMed]

127. Huang WC, Wright AF, Roman AJ, CIDECIYAN AV, Manson FD, Gewaily DY, Schwartz SB, Sadigh S, Limberis MP, Bell P, Wilson JM, Swaroop A, Jacobson SG. RPGR-associated retinal degeneration in human X-linked RP and a murine model. Investigative Ophthalmology & Visual Science 53:5594–5608, 2012. [PubMed]

126. Beltran WA, CIDECIYAN AV, Lewin AS, Iwabe1 S, Khanna H, Sumaroka A, Chiodo VA, Fajardo DS, Román AJ, Deng WT, Swider M, Alemán TS, Boye SL, Genini S,Swaroop A, Hauswirth WW, Jacobson SG, Aguirre GD. Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proceedings of the National Academy of Sciences USA 109:2132-2137, 2012. [PubMed] [Penn News] [PDF]

122. Jacobson SG, CIDECIYAN AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, Peden MC, Aleman TS, Boye SL, Sumaroka A, Conlon TJ, Calcedo R, Pang J-J, ErgerKE, Olivares MB, Mullins CL, Swider M, Kaushal S, Feuer WJ, Iannaccone A, Fishman GA, Stone EM, Byrne BJ, Hauswirth WW. Gene therapy for Leber congenital amaurosis caused by RPE65 mutations: Safety and efficacy in fifteen children and adults followed up to three years. Archives of Ophthalmology 130:9-24, 2012.[PubMed]

119. Aleman TS, CIDECIYAN AV, Aguirre GK, Huang WC, Mullins CL, Roman AJ, Sumaroka A, Olivares MB, Tsai FF, Schwartz SB, Vandenberghe LH, Limberis MP, Stone EM, Bell P, Wilson JM, Jacobson SG. Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model. Investigative Ophthalmology & Visual Science, 52:6898-6910, 2011. [PubMed]

116. CIDECIYAN AV, Rachel RA, Aleman TS, Swider M, Schwartz SB, Sumaroka A, Roman AJ, Stone AM, Jacobson SG, Swaroop A. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Human Molecular Genetics, 20:1411-1423, 2011. [PubMed]

110. Caruso RC, Aleman TS, CIDECIYAN AV, Roman AJ, Sumaroka A, Mullins CL, Boye SL, Hauswirth WW, Jacobson SG. Retinal disease in Rpe65-deficient mice: comparison to human Leber congenital amaurosis due to RPE65 mutations. Investigative Ophthalmology & Visual Science, 51:5304-5313, 2010. [PubMed]

109. CIDECIYAN AV. Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. Progress in Retinal and Eye Research, 29:398-427, 2010.[PubMed]

98. CIDECIYAN AV, Aleman TS, Boye SL, Schwartz SB, Kaushal S, Roman AJ, Pang J-j, Sumaroka A, Windsor EAM, Wilson JM, Flotte TR, Fishman GA, Heon E, Stone EM, Byrne BJ, Jacobson SG, Hauswirth WW. Human gene therapy for RPE65-isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proceedings of the National Academy of Sciences USA, 105: 15112-15117, 2008. [PubMed] [PDF]

89. Roman AJ, Boye SL, Aleman TS, Pang J-J, McDowell JH, Boye SE, CIDECIYAN AV, Jacobson SG, Hauswirth WW. Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis. Molecular Vision, 13:1701-1710, 2007. [PubMed] [PDF]

86. Aguirre GK, Komáromy AM, CIDECIYAN AV, Brainard DH, Alemán TS, Roman AJ, Avants BB, Gee JC, Korczykowski M, Hauswirth WW, Acland GM, Aguirre GD, Jacobson SG. Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation. PLoS Medicine, 4:e230, 2007. [PubMed] [PDF]

77. Jacobson SG, Boye SL, Aleman TS, Conlon TJ, Zeiss CJ, Roman AJ, CIDECIYAN AV, Schwartz SB, Komaromy AM, Doobrajh M, Cheung AY, Sumaroka A, Pearce-Kelling SE, Aguirre GD, Kaushal S, Maguire AM, Flotte TR, Hauswirth WW. Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. Human Gene Therapy 17:845-58, 2006. [PubMed]

76. Cheng H, Aleman TS, CIDECIYAN AV, Khanna R, Jacobson SG, Swaroop A. In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development. Human Molecular Genetics 15:2588-602, 2006. [PubMed]

74. Williams ML, Coleman JE, Haire SE, Aleman TS, CIDECIYAN AV, Sokal I, Palczewski K, Jacobson SG, Semple-Rowland SL. Lentiviral expression of retinal Guanylate Cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. PLoS Medicine 3:e201, 2006. [PubMed]

73. Jacobson SG, Acland GM, Aguirre GD, Aleman TS, Schwartz SB, CIDECIYAN AV, Zeiss CJ, Komaromy AM, Kaushal S, Roman AJ, Windsor EAM, Sumaroka A, Pearce-Kelling SE, Conlon TJ, Chiodo VA, Boye SL, Flotte TR, Maguire AM, Bennett J, Hauswirth WW. Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection. Molecular Therapy 13:1074-1084, 2006. [PubMed]

71. Acland GM, Aguirre GD, Bennett J, Aleman TS, CIDECIYAN AV, Bennicelli J, Dejneka NS, Pearce-Kelling SE, Maguire AM, Palczewski K, Hauswirth WW, Jacobson SG. Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. Molecular Therapy 12:1072-1082, 2005. [PubMed]

59. Dejneka NS, Surace EM, Aleman TS, CIDECIYAN AV, Lyubarsky A, Savchenko A, Redmond TM, Tang W, Wei Z, Rex TS, Glover E, Maguire AM, Pugh EN Jr, Jacobson SG, Bennett J. In utero gene therapy rescues vision in a murine model of congenital blindness. Molecular Therapy, 9:182-188, 2004. [PubMed]

49. Kijas JW, CIDECIYAN AV, Aleman TS, Pianta MJ, Pearce-Kelling SE, Miller BJ, Jacobson SG, Aguirre GD, Acland GM. Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proceedings of the National Academy of Sciences USA 99:6328-6333, 2002. [PubMed] [PDF]

46. Aleman TS, LaVail MM, Montemayor R, Ying G-S., Maguire MM, Laties AM, Jacobson SG, CIDECIYAN AV. Augmented rod bipolar cell function in partial photoreceptor loss: an ERG study in P23H rhodopsin transgenic and aging normal rats. Vision Research 41:2779-2797, 2001. [PubMed]

43. Acland GM, Aguirre GD, Ray J, Zhang Q, Aleman TS, CIDECIYAN AV, Pearce-Kelling SE, Anand V, Zeng Y, Maguire AM, Jacobson SG, Hauswirth WW, Bennett J. Gene therapy restores vision in a canine model of childhood blindness. Nature Genetics 28:92-95, 2001. [PubMed]

42. Liang F-Q, Aleman TS, Yang Z, CIDECIYAN AV, Jacobson SG, Bennett J. Melatonin delays photoreceptor degeneration in the rds/rds mouse. Neuroreport 12:1011-1014, 2001. [PubMed]

37. van Hooser JP, Aleman TS, He Y-G, CIDECIYAN AV, Kuska V, Pittler SJ, Stone EM, Jacobson SG, Palczewski K. Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proceedings of the National Academy of Sciences USA 97:8623-8628, 2000. [PubMed] [PDF]

31. Bennett J, Maguire AM, CIDECIYAN AV, Schnell M, Glover E, Anand V, Aleman TS, Chirmule N, Gupta AR, Huang Y, Gao G-P, Nyberg WC, Tazelaar J, Hughes J, Wilson JM, Jacobson SG. Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina. Proceedings of the National Academy of Sciences USA 96:9920-9925, 1999. [PubMed] [PDF]

30. Banin E, CIDECIYAN AV, Aleman TS, Petters RM, Wong F, Milam AH, Jacobson SG. Retinal rod photoreceptor-specific gene mutation perturbs cone pathway development. Neuron 23:549-557, 1999. [PubMed]

22. Petters RM, Alexander CA, Wells KD, Collins EB, Sommer JR, Blanton MR, Rojas G, Hao Y, Flowers WL, Banin E, CIDECIYAN AV, Jacobson SG, Wong F. Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa. Nature Biotechnology, 15:965-970, 1997. [PubMed]


Last updated August 4, 2021