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Optic nerve hypoplasia in miniature poodle dogs: A preliminary genetic and candidate gene association study.

Becker D, Niggel JK, Pearce-Kelling S, Riis RC, Aguirre GD.

Vet Ophthalmol. 2019 Jul 25. doi: 10.1111/vop.12691. [Epub ahead of print]


Introducing Artur V. Cideciyan and Samuel G. Jacobson, the 2018 Recipients of the Proctor Medal.

Héon E, Aguirre GD.

Invest Ophthalmol Vis Sci. 2019 Apr 1;60(5):1677-1679. doi: 10.1167/iovs.19-26884. No abstract available.


Comparative localization of cystathionine beta synthases and cystathionine gamma lyase in canine, non-human primate and human retina.

Badiei A, Sudharsan R, Santana E, Dunaief JL, Aguirre GD.

Exp Eye Res. 2019 Apr;181:72-84. doi: 10.1016/j.exer.2019.01.007. Epub 2019 Jan 14.


Complex Structural PPT1 Variant Associated with Non-syndromic Canine Retinal Degeneration.

Murgiano L, Becker D, Torjman D, Niggel JK, Milano A, Cullen C, Feng R, Wang F, Jagannathan V, Pearce-Kelling S, Katz ML, Leeb T, Aguirre GD.

G3 (Bethesda). 2019 Feb 7;9(2):425-437. doi: 10.1534/g3.118.200859.


Author Correction: Involvement of Innate Immune System in Late Stages of Inherited Photoreceptor Degeneration.

Sudharsan R, Beiting DP, Aguirre GD, Beltran WA.

Sci Rep. 2018 Nov 14;8(1):17041. doi: 10.1038/s41598-018-35520-2.


Translational Retinal Research and Therapies.

Hardcastle AJ, Sieving PA, Sahel JA, Jacobson SG, Cideciyan AV, Flannery JG, Beltran WA, Aguirre GD.

Transl Vis Sci Technol. 2018 Sep 13;7(5):8. doi: 10.1167/tvst.7.5.8. eCollection 2018 Sep.


Author Correction: Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology.

Das RG, Marinho FP, Iwabe S, Santana E, McDaid KS, Aguirre GD, Miyadera K.

Sci Rep. 2018 Aug 24;8(1):13058. doi: 10.1038/s41598-018-31337-1.


Ndr kinases regulate retinal interneuron proliferation and homeostasis.

Léger H, Santana E, Leu NA, Smith ET, Beltran WA, Aguirre GD, Luca FC.

Sci Rep. 2018 Aug 22;8(1):12544. doi: 10.1038/s41598-018-30492-9.


Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector.

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.

Proc Natl Acad Sci U S A. 2018 Sep 4;115(36):E8547-E8556. doi: 10.1073/pnas.1805055115. Epub 2018 Aug 20.


Photoreceptor Outer Segment Isolation from a Single Canine Retina for RPE Phagocytosis Assay.

Sudharsan R, Elliott MH, Dolgova N, Aguirre GD, Beltran WA.

Adv Exp Med Biol. 2018;1074:593-601. doi: 10.1007/978-3-319-75402-4_72.


Underdeveloped RPE Apical Domain Underlies Lesion Formation in Canine Bestrophinopathies.

Guziewicz KE, McTish E, Dufour VL, Zorych K, Dhingra A, Boesze-Battaglia K, Aguirre GD.

Adv Exp Med Biol. 2018;1074:309-315. doi: 10.1007/978-3-319-75402-4_38. Review.


BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure.

Guziewicz KE, Cideciyan AV, Beltran WA, Komáromy AM, Dufour VL, Swider M, Iwabe S, Sumaroka A, Kendrick BT, Ruthel G, Chiodo VA, Héon E, Hauswirth WW, Jacobson SG, Aguirre GD.

Proc Natl Acad Sci U S A. 2018 Mar 20;115(12):E2839-E2848. doi: 10.1073/pnas.1720662115. Epub 2018 Mar 5.


Involvement of Innate Immune System in Late Stages of Inherited Photoreceptor Degeneration.

Sudharsan R, Beiting DP, Aguirre GD, Beltran WA.

Sci Rep. 2017 Dec 20;7(1):17897. doi: 10.1038/s41598-017-18236-7. Erratum in: Sci Rep. 2018 Nov 14;8(1):17041.


Concepts and Strategies in Retinal Gene Therapy.

Aguirre GD.

Invest Ophthalmol Vis Sci. 2017 Oct 1;58(12):5399-5411. doi: 10.1167/iovs.17-22978. No abstract available.


Safety and Efficacy of AAV5 Vectors Expressing Human or Canine CNGB3 in CNGB3-Mutant Dogs.

Ye GJ, Komáromy AM, Zeiss C, Calcedo R, Harman CD, Koehl KL, Stewart GA, Iwabe S, Chiodo VA, Hauswirth WW, Aguirre GD, Chulay JD.

Hum Gene Ther Clin Dev. 2017 Dec;28(4):197-207. doi: 10.1089/humc.2017.125. Epub 2017 Oct 11.


Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology.

Das RG, Marinho FP, Iwabe S, Santana E, McDaid KS, Aguirre GD, Miyadera K.

Sci Rep. 2017 Oct 9;7(1):12823. doi: 10.1038/s41598-017-13112-w. Erratum in: Sci Rep. 2018 Aug 24;8(1):13058.


Tolerability of Topical Tocilizumab Eyedrops in Dogs: A Pilot Study.

Bunya VY, Iwabe S, Macchi I, Massaro-Giordano M, Pistilli M, Aguirre GD.

J Ocul Pharmacol Ther. 2017 Sep;33(7):519-524. doi: 10.1089/jop.2017.0017. Epub 2017 Jun 26.


Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations.

Beltran WA, Cideciyan AV, Boye SE, Ye GJ, Iwabe S, Dufour VL, Marinho LF, Swider M, Kosyk MS, Sha J, Boye SL, Peterson JJ, Witherspoon CD, Alexander JJ, Ying GS, Shearman MS, Chulay JD, Hauswirth WW, Gamlin PD, Jacobson SG, Aguirre GD.

Mol Ther. 2017 Aug 2;25(8):1866-1880. doi: 10.1016/j.ymthe.2017.05.004. Epub 2017 May 27.


Strong upregulation of inflammatory genes accompanies photoreceptor demise in canine models of retinal degeneration.

Appelbaum T, Santana E, Aguirre GD.

PLoS One. 2017 May 9;12(5):e0177224. doi: 10.1371/journal.pone.0177224. eCollection 2017.


Lack of consensus on consensual response.

Stonex TM, Bartoe JT, Aguirre GD.

Vet Ophthalmol. 2018 Jan;21(1):104-107. doi: 10.1111/vop.12469. Epub 2017 Apr 4.


Acute and Protracted Cell Death in Light-Induced Retinal Degeneration in the Canine Model of Rhodopsin Autosomal Dominant Retinitis Pigmentosa.

Sudharsan R, Simone KM, Anderson NP, Aguirre GD, Beltran WA.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):270-281. doi: 10.1167/iovs.16-20749.


Bestrophinopathy: An RPE-photoreceptor interface disease.

Guziewicz KE, Sinha D, Gómez NM, Zorych K, Dutrow EV, Dhingra A, Mullins RF, Stone EM, Gamm DM, Boesze-Battaglia K, Aguirre GD.

Prog Retin Eye Res. 2017 May;58:70-88. doi: 10.1016/j.preteyeres.2017.01.005. Epub 2017 Jan 19. Review.


Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.

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.

Hum Mol Genet. 2016 Oct 1;25(19):4211-4226. doi: 10.1093/hmg/ddw254. Epub 2016 Aug 9.


Molecular studies of phenotype variation in canine RPGR-XLPRA1.

Appelbaum T, Becker D, Santana E, Aguirre GD.

Mol Vis. 2016 Apr 9;22:319-31. eCollection 2016.


Assessment of visual function and retinal structure following acute light exposure in the light sensitive T4R rhodopsin mutant dog.

Iwabe S, Ying GS, Aguirre GD, Beltran WA.

Exp Eye Res. 2016 May;146:341-53. doi: 10.1016/j.exer.2016.04.006. Epub 2016 Apr 13.


Photoreceptor proliferation and dysregulation of cell cycle genes in early onset inherited retinal degenerations.

Gardiner KL, Downs L, Berta-Antalics AI, Santana E, Aguirre GD, Genini S.

BMC Genomics. 2016 Mar 11;17:221. doi: 10.1186/s12864-016-2477-9.


Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease.

Beltran WA, Cideciyan AV, Iwabe S, Swider M, Kosyk MS, McDaid K, Martynyuk I, Ying GS, Shaffer J, Deng WT, Boye SL, Lewin AS, Hauswirth WW, Jacobson SG, Aguirre GD.

Proc Natl Acad Sci U S A. 2015 Oct 27;112(43):E5844-53. doi: 10.1073/pnas.1509914112. Epub 2015 Oct 12.


FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration.

Downs LM, Aguirre GD.

Adv Exp Med Biol. 2016;854:201-7. doi: 10.1007/978-3-319-17121-0_27.


Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.

Tanaka N, Dutrow EV, Miyadera K, Delemotte L, MacDermaid CM, Reinstein SL, Crumley WR, Dixon CJ, Casal ML, Klein ML, Aguirre GD, Tanaka JC, Guziewicz KE.

PLoS One. 2015 Sep 25;10(9):e0138943. doi: 10.1371/journal.pone.0138943. eCollection 2015.


A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.

Kondo M, Das G, Imai R, Santana E, Nakashita T, Imawaka M, Ueda K, Ohtsuka H, Sakai K, Aihara T, Kato K, Sugimoto M, Ueno S, Nishizawa Y, Aguirre GD, Miyadera K.

PLoS One. 2015 Sep 14;10(9):e0137072. doi: 10.1371/journal.pone.0137072. eCollection 2015.


Pharmacological Modulation of Photoreceptor Outer Segment Degradation in a Human iPS Cell Model of Inherited Macular Degeneration.

Singh R, Kuai D, Guziewicz KE, Meyer J, Wilson M, Lu J, Smith M, Clark E, Verhoeven A, Aguirre GD, Gamm DM.

Mol Ther. 2015 Nov;23(11):1700-1711. doi: 10.1038/mt.2015.141. Epub 2015 Aug 24.


Improvement in vision: a new goal for treatment of hereditary retinal degenerations.

Jacobson SG, Cideciyan AV, Aguirre GD, Roman AJ, Sumaroka A, Hauswirth WW, Palczewski K.

Expert Opin Orphan Drugs. 2015 May 4;3(5):563-575.


Exclusion of the unfolded protein response in light-induced retinal degeneration in the canine T4R RHO model of autosomal dominant retinitis pigmentosa.

Marsili S, Genini S, Sudharsan R, Gingrich J, Aguirre GD, Beltran WA.

PLoS One. 2015 Feb 19;10(2):e0115723. doi: 10.1371/journal.pone.0115723. eCollection 2015.


Restoration of visual function by expression of a light-gated mammalian ion channel in retinal ganglion cells or ON-bipolar cells.

Gaub BM, Berry MH, Holt AE, Reiner A, Kienzler MA, Dolgova N, Nikonov S, Aguirre GD, Beltran WA, Flannery JG, Isacoff EY.

Proc Natl Acad Sci U S A. 2014 Dec 23;111(51):E5574-83. doi: 10.1073/pnas.1414162111. Epub 2014 Dec 8.


Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR.

Beltran WA, Cideciyan AV, Lewin AS, Hauswirth WW, Jacobson SG, Aguirre GD.

Cold Spring Harb Perspect Med. 2014 Oct 9;5(2):a017392. doi: 10.1101/cshperspect.a017392. Review.


Implications of retinal effects observed in chronic toxicity studies on the clinical development of a CNS-active drug candidate.

Eichenbaum G, Zhou J, Kelley MF, Roosen W, Costa-Giomi P, Louden C, Di Prospero NA, Pandina G, Singh JB, Ford L, Moyer JA, Nork TM, Ver Hoeve JN, Aguirre GD.

Regul Toxicol Pharmacol. 2014 Jul;69(2):187-200. doi: 10.1016/j.yrtph.2014.03.005. Epub 2014 Mar 26.


Isolation and ex vivo characterization of the immunophenotype and function of microglia/macrophage populations in normal dog retina.

Genini S, Beltran WA, Stein VM, Aguirre GD.

Adv Exp Med Biol. 2014;801:339-45. doi: 10.1007/978-1-4614-3209-8_43.


Canine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerations.

Beltran WA, Cideciyan AV, Guziewicz KE, Iwabe S, Swider M, Scott EM, Savina SV, Ruthel G, Stefano F, Zhang L, Zorger R, Sumaroka A, Jacobson SG, Aguirre GD.

PLoS One. 2014 Mar 5;9(3):e90390. doi: 10.1371/journal.pone.0090390. eCollection 2014.


Altered miRNA expression in canine retinas during normal development and in models of retinal degeneration.

Genini S, Guziewicz KE, Beltran WA, Aguirre GD.

BMC Genomics. 2014 Mar 1;15:172. doi: 10.1186/1471-2164-15-172.


Up-regulation of tumor necrosis factor superfamily genes in early phases of photoreceptor degeneration.

Genini S, Beltran WA, Aguirre GD.

PLoS One. 2013 Dec 19;8(12):e85408. doi: 10.1371/journal.pone.0085408. eCollection 2013.


Recombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects.

Guziewicz KE, Zangerl B, Komáromy AM, Iwabe S, Chiodo VA, Boye SL, Hauswirth WW, Beltran WA, Aguirre GD.

PLoS One. 2013 Oct 15;8(10):e75666. doi: 10.1371/journal.pone.0075666. eCollection 2013.


IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds.

Goldstein O, Mezey JG, Schweitzer PA, Boyko AR, Gao C, Bustamante CD, Jordan JA, Aguirre GD, Acland GM.

Invest Ophthalmol Vis Sci. 2013 Oct 25;54(10):7005-19. doi: 10.1167/iovs.13-12915.


A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs.

Goldstein O, Jordan JA, Aguirre GD, Acland GM.

Mol Vis. 2013 Aug 27;19:1871-84. eCollection 2013.


Reply to Townes-Anderson: RPE65 gene therapy does not alter the natural history of retinal degeneration.

Cideciyan AV, Jacobson SG, Beltran WA, Hauswirth WW, Aguirre GD.

Proc Natl Acad Sci U S A. 2013 May 7;110(19):E1706. No abstract available.


Transient photoreceptor deconstruction by CNTF enhances rAAV-mediated cone functional rescue in late stage CNGB3-achromatopsia.

Komáromy AM, Rowlan JS, Corr AT, Reinstein SL, Boye SL, Cooper AE, Gonzalez A, Levy B, Wen R, Hauswirth WW, Beltran WA, Aguirre GD.

Mol Ther. 2013 Jun;21(6):1131-41. doi: 10.1038/mt.2013.50. Epub 2013 Apr 9.


Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.

Cideciyan AV, Jacobson SG, Beltran WA, Sumaroka A, Swider M, Iwabe S, Roman AJ, Olivares MB, Schwartz SB, Komáromy AM, Hauswirth WW, Aguirre GD.

Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E517-25. doi: 10.1073/pnas.1218933110. Epub 2013 Jan 22.


A digital atlas of the dog brain.

Datta R, Lee J, Duda J, Avants BB, Vite CH, Tseng B, Gee JC, Aguirre GD, Aguirre GK.

PLoS One. 2012;7(12):e52140. doi: 10.1371/journal.pone.0052140. Epub 2012 Dec 20.


Blinded by the light: retinal phototoxicity in the context of safety studies.

De Vera Mudry MC, Kronenberg S, Komatsu S, Aguirre GD.

Toxicol Pathol. 2013 Aug;41(6):813-25. doi: 10.1177/0192623312469308. Epub 2012 Dec 27. Review. No abstract available.


Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs.

Kuznetsova T, Iwabe S, Boesze-Battaglia K, Pearce-Kelling S, Chang-Min Y, McDaid K, Miyadera K, Komaromy A, Aguirre GD.

Invest Ophthalmol Vis Sci. 2012 Aug 15;53(9):5486-501. doi: 10.1167/iovs.12-10178.


Canine multifocal retinopathy in the Australian Shepherd: a case report.

Hoffmann I, Guziewicz KE, Zangerl B, Aguirre GD, Mardin CY.

Vet Ophthalmol. 2012 Sep;15 Suppl 2:134-8. doi: 10.1111/j.1463-5224.2012.01005.x. Epub 2012 Mar 20.

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