Mowat F.M. Iwabe S., Aguirre G.D., Petersen-Jones S. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Veterinary Ophthalmology, 2024, (online ahead of print).
https://onlinelibrary.wiley.com/doi/epdf/10.1111/vop.13185
Murgiano L., Niggel J.K., Benedicenti L., Cortellari M., Bionda A., Crepaldi P., Liotta L., Aguirre G.K., Beltran W.A., Aguirre G.D. Frameshift variant in AMPD2 in Cirneco dell’Etna dogs with retinopathy and tremors. Genes, 2024: 15 (2): 238
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Taskin H.O., Wivel J., Aguirre G.D., Beltran W.A., Aguirre G.K. Cone-driven, geniculocortical responses in canine models of outer retinal disease. Translational Vision Science & Technology, 2024; 13 (1): 18.
https://tvst.arvojournals.org/article.aspx?articleid=2793301
Takahashi K., Kwok J.C., Sato Y., Aguirre G.D., Miyadera K. Molecular characterization of MAP9 in the photoreceptor sensory cilia as a modifier in canine RPGRIP1-associated cone-rod dystrophy. Frontiers in Cellular Neuroscience, 2023; 17: 1226603
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Takahashi K., Kwok J.C., Sato Y., Aguirre G.D., Miyadera K. Extended functional rescue following AAV gene therapy in a canine model of LRIT3-congenital stationary night blindness. Vision Research, 2023; 209: 108260. https://www.sciencedirect.com/science/article/abs/pii/S0042698923000846?via%3Dihub
Ripolles-Garcia A., Murgiano L., Ziolkowska N., Marinho F.P., Roszak K., Iffrig S., Aguirre G.D., Miyadera K. Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci. Human Molecular Genetics, 2023: 32:2139-2151.
https://academic.oup.com/hmg/article-abstract/32/13/2139/7084859?redirectedFrom=fulltext&login=false
Appelbaum T., Aguirre G.D., Beltran W.A. Identification of circular RNAs hosted by the RPGR ORF15 genomic locus. RNA biology, 2023; 20 (1): 31-47. https://doi.org/10.1080/15476286.2022.2159165
Cideciyan A.V., Jacobson S.G., Sumaroka A., Swider M., Krishnan A.K., Sheplock R., Garafalo A.V., Guziewicz K.E., Aguirre G.D., Beltran W.A., Matsui Y., Kondo M., Heon E. Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations. Vision Research, 2023; 203: 108157 https://www.sciencedirect.com/science/article/pii/S0042698922001638
Xu L., Ruddick W.N., Bolch S.N., Klingeborn M., Dyka F.M., Kulkarni M.M.,
Simpson C.P., Beltran W.A., Rickman C.B., Smith W.C., Dinculescu A. Distinct phenotypic consequences of pathogenic mutants associated with late-onset retinal degeneration. The American Journal of Pathology, 2023; 193 (11): 1706-1720
https://ajp.amjpathol.org/article/S0002-9440(22)00327-3/fulltext
Cideciyan A.V., Jacobson S.G., Swider M., Sumaroka A., Sheplock R., Krishnan A.K., Garafalo A.V., Guziewicz K.E., Aguirre G.D., Beltran W.A., Heon E. Photoreceptor function and structure in autosomal dominant vitelliform macular dystrophy caused by BEST1 Mutations. Investigative Ophthalmology and Visual Sciences, 2022; 63 (13):12.
https://doi.org/10.1167/iovs.63.13.12
Nikonov S., Dolgova N., Sudharsan R., Tochitsky I., Iwabe S., Guzman J-M., Van Gelder R.N., Kramer R.H., Aguirre G.D., Beltran W.A. Photochemical restoration of light sensitivity in the degenerated canine retina. Pharmaceutics, 2022; 14 (12): 2711.
https://doi.org/10.3390/pharmaceutics14122711
Ripolles-Garcia A., Chen Y., Sato Y., Gray A., Ying G-S, Aguirre G.D., Beltran W.A. Retinal vascular plexuses are unequally affected in canine inherited retinal degenerations. Investigative Ophthalmology and Visual Sciences, 2022; 63 (12):22.
https://iovs.arvojournals.org/article.aspx?articleid=2783854
Ripolles-Garcia A, Dologova N, Phillips MJ, Savina S, Ludwig AL, Stuedemann SA, Niebedum U, Wolfe JH, Garden OA, Maminishkis A, Amaral J, Bharti K, Gamm DM, Aguirre GD, Beltran WA. Systemic immunosuppression promotes survival and integration of subretinally implanted human ESC-derived photoreceptor precursor cells in dogs. Stem Cell Reports, 2022; 17 (8): 1824-1841.
https://www.sciencedirect.com/science/article/pii/S2213671122003253?via%3Dihub
Miyadera K, Santana E, Roszak K, Iffrig S, Visel M, Iwabe S, Boyd RF, Bartoe JT, Sato Y, Gray A, Ripolles-Garcia A, Dufour VL, Byrne LC, Flannery JG, Beltran WA, Aguirre GD. Targeting ON-bipolar cells by AAV gene therapy stably reverses LRIT3-congenital stationary night blindness. Proc Natl Acad Sci USA., 2022; 119(13):e2117038119.
https://doi.org/10.1073/pnas.2117038119
Badiei A, Beltran WA, Aguirre GD. Altered transsulfuration pathway enzymes and redox homeostasis in retinal degenerative diseases. Exp. Eye Res., 2022; 215: 108902
https://www.sciencedirect.com/science/article/pii/S0014483521004681?via%3Dihub
Ripolles-Garcia A, Holle DM, Cohen JA, Beltran WA, Aguirre GD. Retinal structural and microvascular abnormalities in retinal dysplasia. Vet. Ophthalmol., 2022; 25 Suppl 1: 193-200. https://onlinelibrary.wiley.com/doi/10.1111/vop.12952
Gray AP, Sato Y, Miyadera K, Aguirre GD. Novel insights into chorioretinal and juxtapapillary colobomas by optical coherence tomography. Vet. Ophthalmol., 2022; 25 Suppl 1: 136-143. https://onlinelibrary.wiley.com/doi/10.1111/vop.12970
Aguirre GD, Kazacos KR. Is it canine DUSN? Another view of retinopathies, some acquired, and other possibly “inherited”. Vet. Ophthalmol., 2022; 25 (2): 96-108.
https://pubmed.ncbi.nlm.nih.gov/34894198/
Sato Y, Gray AP, Takahashi K, Dufour VL, Lutty G, Miyadera K, Aguirre GD. Monocular retinopathy of prematurity-like retinal vasculopathy in a dog. Vet. Ophthalmol., 2022; 25 (1): 78-84.
https://onlinelibrary.wiley.com/doi/10.1111/vop.12959
Dufour VL, Cohen JA, Holle DM, Aguirre GD. Optic nerve colobomas associated with unilateral focal serous retinal detachment in a dog – In-vivo imaging and outcome following laser retinopexy. Vet. Ophthalmol., 2021; 24 (6): 645-652.
https://onlinelibrary.wiley.com/doi/10.1111/vop.12948
Ripolles-Garcia A, Ruthel G, Ying G-S, Chen Y, Cuenca N, Aguirre GD, Beltran WA. Characterization of the canine retinal vasculature with optical coherence tomography angiography: comparisons with histology and fluorescein angiography. Front. Neuroanat., 2021; 15: 785249.
https://www.frontiersin.org/articles/10.3389/fnana.2021.785249/full
Öztürk BE, Johnson ME, Kleyman M, Turunç S, He J, Jabalameli S, Xi Z, Visel M, Dufour VL, Iwabe S, Pompeo Marinho F, Aguirre GD, Sahel J-A, Schaffer DV, Pfenning AR, Flannery JG, Beltran WA, Stauffer WR, Byrne LC. scAAVengr, a transcriptome-based pipeline for quantitative ranking of engineered AAVs with single-cell resolution. eLife, 2021; 10:e64174.
https://elifesciences.org/articles/64175
Mbefo M, Berger A, Schouwey K, Gérard X, Kostic C, Beryozkin A, Sharon D, Dolfuss H, Munier F, Tran HV, Van Lohuizen M, Beltran WA, Arsenijevic Y. Enhancer of zest homolog 2 (EZH2) contributes to rod photoreceptor death process in several forms of retinal degeneration and its activity can serve as a biomarker for therapy efficacy. Int. J. Mol. Sci., 2021; 22(17):9331
https://www.mdpi.com/1422-0067/22/17/9331
Aguirre GD, Cideciyan AV, Dufour VL, Ripolles-García A, 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.
Mol. Ther., 2021:29(8):2456-2468.
https://www.sciencedirect.com/science/article/pii/S1525001621001507?via%3Dihub
Sudharsan R, Murgiano L, Tang HY, Olsen TW, Chavali VRM, Aguirre GD, BeltranWA. Short prolactin isoforms are expressed in photoreceptors of canine retinas undergoing retinal degeneration. Sci. Rep.,2021: 11:460.
https://www.nature.com/articles/s41598-020-80691-6
Appelbaum T, Murgiano L, Becker D, Santana E, Aguirre GD. Candidate Genetic Modifiers for RPGR Retinal Degeneration. Invest. Ophthalmol. Vis. Sci. 2020;61(14):20. https://iovs.arvojournals.org/article.aspx?articleid=2772076
Murgiano L, Becker D, Spector C, Carlin K, Santana E, Niggel JK, Jagannathan V, Leeb T, Pearce-Kelling S., Aguirre GD, Miyadera K. CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs. Sci. Rep., 2020; 10:21162. https://www.nature.com/articles/s41598-020-77980-5
Cideciyan AV, Jacobson SG, Roman AJ, Sumaroka A, Wu V, Charng J, Lisi B, Swider M, Aguirre GD, Beltran WA. Rod function deficit in retained in photoreceptors of patients with Class B rhodopsin mutations. Sci. Rep., 2020;10:12552.
https://www.nature.com/articles/s41598-020-69456-3
Appelbaum T, Santana E, Aguirre GD. Critical decrease in the level of axon guidance receptor ROBO1 in rod synaptic terminals is followed by axon retraction. Invest. Ophthalmol. Vis. Sci. 2020;61(3):1-12.
https://iovs.arvojournals.org/article.aspx?articleid=2763123
Dufour VL, Yu Y, Pan W, Ying GS, Aguirre GD, Beltran WA. In-vivo longitudinal changes in the thickness of the postnatal canine retina. Exp. Eye Res., 2020;192:107926.
https://www.sciencedirect.com/science/article/pii/S0014483519304099?via%3Dihub
Song C, Dufour VL, CideciyanAV, Ye GJ, Swider M, Newmark JA, Timmers AM, Robinson PM, Knop DR, Chulay JD,Jacobson SG, Aguirre GD, BeltranWA, Shearman MS. Dose range finding studies with two RPGR transgenes in a canine model of X-linked retinitis pigmentosa treated with subretinal gene therapy. Hum. Gene Ther., 2020:31 (13-14):743-755.
https://www.liebertpub.com/doi/10.1089/hum.2019.337
Dufour VL, Cideciyan AV, Ye GJ, Song C, Timmers A, Habecker PL, Pan W, Weinstein NM, Swider M, Durham AC, Ying GS, Robinson PM, Jacobson SG, Knop DR, Chulay JD, Shearman MS, Aguirre GD, Beltran WA. Toxicity and efficacy evaluation of an adeno-associated virus vector expressing codon-optimized RPGR delivered by subretinal injection in a canine model of X-linked retinitis pigmentosa. Hum. Gene Ther., 2020; 31 (3-4): 253-267.
https://www.liebertpub.com/doi/10.1089/hum.2019.297
Garafalo AV, Cideciyan AV, Héon E, Sheplock R, Pearson A, WeiYang Yu C, Sumaroka A, Aguirre GD, Jacobson SG. Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives. Prog. Retin. Eye Res., 2020; 77: 100827.
https://www.sciencedirect.com/science/article/pii/S1350946219301144?via%3Dihub
Iwabe S, Dufour VL, Guzman JM, Holle DM, Cohen JA, Beltran WA, Aguirre GD. Focal/multifocal and geographic retinal dysplasia in the dog-In vivo microanatomy analyses.Vet. Ophthalmol., 2020; 23 (2):292-304.
https://onlinelibrary.wiley.com/doi/abs/10.1111/vop.12725
Krishnan H., Diehl K., Stefanovski D., Aguirre GD. Vitreous degeneration and associated ocular abnormalities in the dog. Vet. Ophthalmol., 2020; 23 (2):219-224.
https://onlinelibrary.wiley.com/doi/abs/10.1111/vop.12707
Becker D, Niggel JK, Pearce-Kelling S, Riis RC, Aguirre GD. Optic nerve hypoplasia in miniature poodle dogs: a preliminary genetic and candidate gene association. Vet. Ophthalmol., 2020; 23 (1): 67-76
https://onlinelibrary.wiley.com/doi/full/10.1111/vop.12691
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. Mol. Ther., 2020; 28 (1): 266-278
https://www.sciencedirect.com/science/article/pii/S152500161930396X?via%3Dihub
Léger H, Santana E, Beltran WA, Luca FC. Preparation of mouse retinal cryo-sections for immunohistochemistry. J. Vis. Exp., 2019; 149. doi: 10.3791/59683.
https://www.jove.com/t/59683/
Sudharsan R., Beltran W.A. Progress in gene therapy for Rhodopsin autosomal dominant retinitis pigmentosa. Adv. Exp. Med. Biol., 2019; 1185: 113-118.
https://link.springer.com/chapter/10.1007%2F978-3-030-27378-1_19
Das RG, Becker D, Jagannathan V, Goldstein O, Santana E, Carlin K, Sudharsan R, Leeb T, Nishizawa Y, Kondo M, Aguirre GD, Miyadera K. Genome-wide association study an dwhole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness. Sci. Rep., 2019; 9 (1): 14166.
https://www.nature.com/articles/s41598-019-50573-7
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. Complex Structural PPT1 Variant Associated with Non-syndromic Canine Retinal Degeneration, G3 (Bethesda), 2019; 9(2):425-437
https://www.ncbi.nlm.nih.gov/pubmed/30541930
Badiei A., Sudharsan R., Santana E., Dunaief J.L., Aguirre G.D. Comparative localization of cystathionine beta synthases and cystathionine gamma lyase in canine, non-human primate and human retina. Exp Eye Res., 2019; 181:72-84
https://www.sciencedirect.com/science/article/pii/S001448351830839X
– 2018 –
Léger H., Santana E., Leu N.A., Smith E.T., Beltran W.A., Aguirre G.D., Luca F.C. Ndr kinases regulate retinal interneuron proliferation and homeostasis. Sci Rep., 2018; 8(1):12544.
https://www.nature.com/articles/s41598-018-30492-9
Hardcastle A.J., Sieving P.A., Sahel J.A., Jacobson S.G., Cideciyan A.V., Flannery J.G., Beltran W.A., Aguirre G.D. Translational Retinal Research and Therapies. Transl Vis Sci Technol., 2018; 7(5):8.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138060/?report=reader
Cideciyan A.V., Sudharsan R., Dufour V.L., Massengill M., Iwabe S., Swider M., Lisi B., Sumaroka A., Marinho L.F., Appelbaum T., Rossmiller B., Hauswirth W.W., Jacobson S.G., Lewin A.S., Aguirre G.D., Beltran W.A. Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector. Proc Natl Acad Sci USA., 2018; 115(36):E8547-E8556.
https://www.pnas.org/content/115/36/E8547
Guziewicz K.E., Cideciyan A.V., Beltran W.A., Komáromy A.M., Dufour V.L., Swider M., Iwabe S., Sumaroka A., Kendrick B.T., Ruthel G., Chiodo V.A., Héon E., Hauswirth W.W., Jacobson S.G., Aguirre G.D. BEST1 gene therapy corrects a diffuse retina-wide micro-detachment modulated by light exposure. Proc Natl Acad Sci USA., 2018; 115(12):E2839-E2848.
https://www.pnas.org/content/115/12/E2839
Stonex T.M., Bartoe J.T., Aguirre G.D. Lack of consensus on consensual response. Vet Ophthalmol., 2018; 21 (1): 104-107.
https://onlinelibrary.wiley.com/doi/full/10.1111/vop.12469
Guziewicz KE, McTish E, Dufour VL, Zorych K, Dhingra A, Boesze-Battaglia K, Aguirre GD. Underdeveloped RPE apical domain underlies lesion formation in canine Bestrophinopathies. Adv. Exp. Med. Biol., 2018;1074:309-315.
https://pubmed.ncbi.nlm.nih.gov/29721958/
Sudharsan R., Elliott M.H., Dolgova N., Aguirre G.D., Beltran W.A. Photoreceptor outer segment isolation from a single canine retina for RPE phagocytosis assay. Adv. Exp. Med. Biol., 2018; 1074: 593-601.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048966/
Ye G.-j., Komaromy A.M., Zeiss C.J., Calcedo R., Harman C.D., Koehl K.L., Stewart G.A., Iwabe S., Chiodo V.A., Hauswirth W.W., Aguirre G.D., Chulay J.D. Safety and efficacy of AAV5 vectors expressing human or canine CNGB3 in CNGB3-mutant dogs. Hum Gene Ther Clin Dev., 2017; 28(4): 197-207.
https://www.liebertpub.com/doi/full/10.1089/humc.2017.125?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed
Sudharsan, R., Beiting D., Aguirre G.D., Beltran W.A. Involvement of innate immune system in late stages of inherited photoreceptor degeneration. Sci Rep., 2017; 7(1): 17897.
https://www.nature.com/articles/s41598-017-18236-7
Yeh CY, Koehl KL, Harman CD, Iwabe S, Guzman JM, Petersen-Jones SM, Kardon RH, Komáromy AM. Assessment of rod, cone, and intrinsically photosensitive retinal ganglion cell contributions to the canine chromatic pupillary response. Invest Ophthalmol Vis Sci.,2017; 58(1):65-78.
https://iovs.arvojournals.org/article.aspx?articleid=2597835
Das R.G, Marinho F.P., Iwabe S., Santana E., McDaid K.S., Aguirre G.D., Miyadera K. Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology. Sci Rep., 2017; 7(1): 12823.
https://www.nature.com/articles/s41598-017-13112-w
Aguirre G.D. Concepts and strategies in retinal gene therapy: The Proctor Lecture. Invest Ophthalmol Vis Sci.,2017; 58(12):5399-5411.
https://iovs.arvojournals.org/article.aspx?articleid=2659572
Beltran W.A., Cideciyan A.V., Boye S.E., Ye G-J., Iwabe S., Dufour V., Marinho L.F., Swider M., Kosyk M., Sha J., Boye S.L., Peterson J.J., Witherspoon C.D., Alexander J.J., Ying G-S., Shearman M.S., Chulay J.D., Hauswirth W.W., Gamlin P.D., Jacobson S.G., Aguirre G.D. Optimization of retinal gene therapy for X-linked retinitis pigmentosa due to RPGR mutations. Mol Ther., 2017; 25(8): 1866-1880.
https://www.sciencedirect.com/science/article/pii/S1525001617302228
Appelbaum T., Santana E., Aguirre G.D. Strong up-regulation of inflammatory genes accompanies photoreceptors demise in canine models of retinal degeneration. PloS ONE, 2017; 12(5): e0177224.
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0177224
Guziewicz K.E., Sinha D., Gomez N.M., Zorych K., Dutrow E.V., Dhingra A., Mullins R.F., Stone E.M., Gamm D.M., Boesze-Battaglia K., Aguirre G.D. Bestrophinopathy: an RPE-photoreceptor interface disease. Prog Retin Eye Res., 2017; 58, 70-88.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441932/
Johnson, A.A., Guziewicz, K.E., Lee, C.J., Kalathur, R.C., Pulido, J.S., Marmorstein, L.Y., Marmorstein, A.D. Bestrophin 1 and retinal disease. Prog Retin Eye Res., 2017; 58: 45-69;https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5600499/
Sudharsan R., Simone K.M., Anderson N.P., Aguirre G.D., Beltran W.A. Acute and protracted cell death in light-induced retinal degeneration in the canine model of rhodopsin autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci.,2017; 58 (1): 270-281.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464465/
Downs L.M., Scott E.M., Cideciyan A.V., Iwabe S., Dufour V., Gardiner K.L., Genini S., Marinho L.F., Sumaroka A., Kosyk M.S., Swider M., Aguirre G.K., Jacobson S.G., Beltran W.A., Aguirre G.D. Overlap of Abnormal Photoreceptor Development and Progressive Degeneration in Leber Congenital Amaurosis Caused by NPHP5 Mutation. Hum Mol Genet., 2016; 25 (19): 4211-4226.
https://academic.oup.com/hmg/article/25/19/4211/2525864
Iwabe S., Ying G.-S., Aguirre G.D., Beltran W.A. Assessment of visual function and retinal structure following acute light exposure in the light sensitive T4R rhodopsin mutant dog. Exp Eye Res., 2016; 146: 341-353.
https://www.sciencedirect.com/science/article/pii/S0014483516300732?via%3Dihub
Appelbaum T., Becker D., Santana E., Aguirre G.D. Molecular studies of phenotype variation in canine RPGR-XLPRA1. Mol Vis., 2016; 22: 319-331.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830396/
Gardiner K.L., Downs L., Berta-Antalics A.I., Santana E., Aguirre G.D., Genini S. Photoreceptor proliferation and dysregulation of cell cycle genes in early onset inherited retinal degenerations. BMC Genomics, 2016; 17:221.
https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-016-2477-9
Downs LM, Aguirre GD. FAM161A and TTC8 are differentially expressed in non-allelic early onset retinal degeneration. Adv Exp Med Biol., 2016; 854:201-207.
https://link.springer.com/chapter/10.1007%2F978-3-319-17121-0_27
Beltran W.A., Cideciyan A.V., Iwabe S., Swider M., Kosyk M.S., McDaid K., Martynyuk I., Ying G-S., Shaffer J., Deng W-T., Boye S.L., Lewin A.S., Hauswirth W.W., Jacobson S.G., Aguirre G.D. Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease. Proc Natl Acad Sci USA., 2015; 112(43): E5844-5853.
https://www.pnas.org/content/112/43/E5844
Tanaka N., Dutrow E.V., Miyadera K., Delemotte L., MacDermaid C.M., Reinstein S.L., Crumley W.R., Dixon C.J., Casal M.L, Klein M.L., Aguirre G.D., Tanaka J.C., Guziewicz K.E. Canine CNGA3 gene mutations provide novel insights into ACHM2-associated channelopathies and treatment. PLoS ONE, 2015; 10(9): e0138943.
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0138943
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 G.D., Miyadera K. A naturally occurring canine model of autosomal recessive congenital stationary night blindness. PLoS ONE, 2015; 10(9): e0137072.
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0137072
Singh R., Kuai D., Guziewicz K.E., Meyer J., Wilson M., Lu J., Smith M., Clark E, Verhoeven A., Aguirre G.D., Gamm D.M. Pharmacological modulation of photoreceptor outer segment degradation in a human iPS cell model of inherited macular degeneration. Mol Ther., 2015; 23(11): 1700-1711.
https://www.sciencedirect.com/science/article/pii/S1525001616301824?via%3Dihub
Jacobson S.G., Cideciyan A.V., Aguirre G.D., Roman A.J., Sumaroka A., Hauswirth W.W., Palczewski K. Improvement in vision: a new goal for treatment of hereditary retinal degenerations. Expert Opin Orphan Drugs, 2015; 3:563-575.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487613/
Marsili S., Genini S., Sudharsan, R., Gingrich, J., Aguirre G.D.,Beltran W.A. Exclusion of the unfolded protein response in light-induced retinal degeneration in the canine T4R RHO model of autosomal dominant retinitis pigmentosa. PLoS ONE, 2015; 10: e0115723.
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0115723
Beltran W.A., Cideciyan A.V., Lewin A.S., Hauswirth W.W., Jacobson S.G., Aguirre G.D. Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR. Cold Spring Harb Perspect Med., 2014; 5(2): a017392.
http://perspectivesinmedicine.cshlp.org/content/5/2/a017392.long
Gaub, B.M., Berry H., Holt A., Reiner A., Kienzler M., Dolgova N. Nikonov S., Aguirre G.D., Beltran W.A., Flannery J., Isacoff E.Y. Restoration of visual function by expression of a light-gated mammalian ion channel in retinal ganglion cells or ON-bipolar cells. Proc Natl Acad Sci USA., 2014; 111(51): E5574-5583.
https://www.pnas.org/content/111/51/E5574.long
Eichenbaum G., Zhou J., Kelley M.F., Roosen W., Costa-Giomi P., Louden C., Di Prospero N.A., Pandina G., Singh J.B., Ford L., Moyer J.A., Nork T.M., Ver Hoeve J.N., Aguirre G.D. Implications of retinal effects observed in chronic toxicity studies on the clinical development of a CNS-active drug candidate. Regul Toxicol Pharmacol., 2014; 69(2): 187-200
https://www.sciencedirect.com/science/article/pii/S0273230014000518?via%3Dihub
Beltran W.A., Cideciyan A.V., Guziewicz K.E., Iwabe S., Swider M., Scott E.M., Savina S.V., Ruthel G., Stefano F., Zhang L., Zorger R., Sumaroka A., Jacobson S.G., Aguirre G.D. Canine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerations. PLoS ONE, 2014; 9(3): e90390.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3944008/
Genini S., Guziewicz K.E., Beltran W.A., Aguirre G.D. Altered miRNA expression profiles in canine models of retinal degeneration. BMC Genomics, 2014; 15:172
https://bmcgenomics.biomedcentral.com/articles/10.1186/1471-2164-15-172
Genini S., Beltran W.A., Aguirre G.D. Up-regulation of Tumor Necrosis Factor superfamily genes in early phases of photoreceptor degeneration. PLoS ONE, 2013; 8(12): e85408.
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085408
Goldstein O., Mezey J.G., Schweitzer P.A., Boyko A.R., Gao C., Bustamante C.D., Jordan J.A., Aguirre G.D., Acland G.M. IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. Invest Ophthalmol Vis Sci., 2013; 54(10): 7005-7019.
https://iovs.arvojournals.org/article.aspx?articleid=2203055
Guziewicz K.E., Zangerl B., Komaromy A.M., Iwabe S., Chiodo V.A., Boye S.L., Hauswirth W.W., Beltran W.A., Aguirre G.D. Recombinant AAV-mediated BEST1 transfer to 1 the retinal pigment epithelium: 2 analysis of serotype-dependent retinal effects. PLoS ONE, 2013; 8(10): e75666.
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0075666
Goldstein O., Jordan J.A., Aguirre G.D., Acland G.M. A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. Mol Vis., 2013; 19:1871-1884.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762564/
Komaromy A., Rowlan J.S., Parton A.T., Reinstein S.L., Boye S.L., Cooper A.E., Levy B., Wen R., Hauswirth W.W., Beltran W.A., Aguirre G.D. Transient photoreceptor deconstruction by ciliary neurotrophic factor enhances rAAV-mediated cone functional rescue inCNGB3-achromatopsia adults. Mol Ther., 2013; 21(6): 1131-1141.
https://www.sciencedirect.com/science/article/pii/S1525001616326077?via%3Dihub
Cideciyan A.V., Jacobson S.G., Beltran W.A., Sumaroka W.A., Swider M., Iwabe S., Roman A.J., Olivaris M.B., Schwartz S.B., Komaromy A.M., Hauswirth W.W., Aguirre G.D. Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. Proc Natl Acad Sci USA., 2013; 110(6): E517-E525.
https://www.pnas.org/content/110/6/E517.long
Datta R., Lee J., Duda J., Avants B.B., Vite C.H., Tseng B., Gee J.C., Aguirre G.D., Aguirre G.K. A digital atlas of the dog brain. PLoS ONE, 2012; 7(12): e52140.
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0052140
Kuznetsova T., Iwabe S., Boeze-Battaglia K., Pearce-Kelling S., Chang-Min Y., McDaid K., Miyadera K., Komaromy A., Aguirre G.D. Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone–rod dystrophy in dogs Invest Ophthalmol Vis Sci., 2012; 53(9): 5486-5501.
https://iovs.arvojournals.org/article.aspx?articleid=2166084
Hoffmann I., Guziewicz K.E., Zangerl B., Aguirre G.D., Mardin C.Y. Canine multifocal retinopathy in the Australian Shepherd: a case report. Vet Ophthalmol., 2012; 15 Suppl 2: 134-138.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787078/
Beltran W.A., Cideciyan A.V., Lewin A.S., Iwabe S., Khanna H., Sumaroka A., Chiodo V.A., Fajardo D.S., Román A.J., Deng W.-T., Swider M., Alemán T.S., Boye S.L., Genini S., Swaroop A., Hauswirth W.W., Jacobson S.G., Aguirre G.D. Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci USA., 2012; 109(6): 2132-2137.
https://www.pnas.org/content/109/6/2132.long
Miyadera K., Acland G.M., Aguirre G.D. Genetic and phenotypic variation of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome, 2012; 23(1-2):40-61.
https://link.springer.com/article/10.1007%2Fs00335-011-9361-3
Berta Á.I., Boesze-Battaglia K., Genini S., Goldstein O., O'Brien P.J., Szél Á., Acland G.M., Beltran W.A., Aguirre G.D. Photoreceptor cell death, proliferation and formation of hybrid rod/S-cone photoreceptors in the degenerating STK38L mutant retina. PLoS ONE, 2011; 6(9): e24074.
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0024074
Guziewicz K.E., Slavik J., Lindauer S.J., Aguirre G.D., Zangerl B. Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies. Invest Ophthalmol Vis Sci.,2011; 52(7): 4497-4505.
https://iovs.arvojournals.org/article.aspx?articleid=2187975
Kuznetsova T., Zangerl B., Goldstein O., Acland G.M., Aguirre G.D. Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue. Invest Ophthalmol Vis Sci.,2011; 52:2989-2998.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3109012/
Goldstein O., Kukekova A.V., Aguirre G.D., and Acland G.M. Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd). Genomics, 2010; 96(6): 362-368
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2996878/
Zangerl B.A., Wickström K., Slavik J., Lindauer S.J., Ahonen S., Schelling K., Guziewicz K.E., Lohi H., Aguirre G.D. Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3) in Lapponian Herders. Mol Vis.,2010; 16:2791-2804.
http://www.molvis.org/molvis/v16/a299/
Goldstein O., Mezey J.G., Boyko A.R., Gao C., Wang W. Bustamante C.D., Anguish L.J., Jordan J.A., Pearce-Kelling S.E., Aguirre G.D., Acland G.M. ADAM9 mutation in Canine Cone-Rod Dystrophy 3 (crd3) establishes homology with human CORD9. Mol Vis.,2010; 16:1549-1569.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2925905/
Goldstein O., Guyon R., Kukekova A., Kuznetsova T.N., Pearce-Kelling S.E., Johnson J. Aguirre G.D., Acland G.M. COL9A2 and COL9A3 mutations in canine autosomal recessive Oculoskeletal Dysplasia. Mamm Genome, 2010; 21(7-8):398-408.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2954766/
Genini S., Zangerl B., Slavik J., Acland G.M., Beltran W.A., Aguirre G.D. Transcriptional profile analysis of RPGRORF15 frameshift mutation identifies novel genes associated with retinal degeneration. Invest Ophthalmol Vis Sci.,2010; 51(11): 6038-6050.
https://iovs.arvojournals.org/article.aspx?articleid=2127267
Zangerl B., Lindauer S.J., Acland G.M., Aguirre G.D. Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies. Mol Genet Genomics, 2010; 284(4): 243-250.
https://link.springer.com/article/10.1007%2Fs00438-010-0560-5
Hernandez M., Pearce-Kelling S.E., Rodriguez F.D., Aguirre G.D., Vecino E. Altered Expression of Retinal Molecular Markers in the Canine RPE65 Model of Leber Congenital Amaurosis. Invest Ophthalmol Vis Sci.,2010; 51(12): 6793-6802.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3055778/
Beltran W.A., Boye S.L., Boye S.E., Chiodo V.A., Lewin A.S., Hauswirth W.W., Aguirre G.D. rAAV2/5 gene-targeting to rods: dose-dependent efficiency and complications associated with different promoters. Gene Therapy, 2010; 17(9): 1162-1174.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2914811/
Komaromy A.M., Alexander J.J., Rowlan J.S., Garcia M.M., Chiodo V.A., Kaya A., Tanaka J.C., Acland G.M., Hauswirth W.W., Aguirre G.D. Gene therapy rescues cone function in congenital achromatopsia. Hum Mol Genet., 2010; 19(13): 2581-2593.
https://academic.oup.com/hmg/article/19/13/2581/556373
Zangerl B., Johnson J., Pillardy J., Sun Q., Andre C., Galibert F., Acland G.M., Aguirre G.D. Comparative genomic mapping of uncharacterized canine retinal ESTs to identify novel candidate genes for hereditary retinal disorders. Mol Vis., 2009; 15: 927-936.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2683029/
Kukekova A.V., Vorobieva N.V., Beklemisheva V.R., Johnson J.L., Temnykh S.V., Yudkin D.V., Trut L.N., Andre C., Galibert F., Aguirre G.D., Acland G.M., Graphodatsky A.S. Chromosomal mapping of canine-derived BAC clones to the red fox and American mink genomes. J Hered., 2009; 100 Suppl1: S42-S53.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139363/
Beltran W.A., Johnson, E., Towle V., Tao W., Acland G.M., Aguirre G.D., Allore H.G., Zeiss C.J. The CREB1/ATF1pathway is activated in photoreceptor degeneration and protection. Invest Ophthalmol Vis Sci.,2009; 50(11): 5355-5363.
https://iovs.arvojournals.org/article.aspx?articleid=2164965
Beltran W.A., Acland G.M., Aguirre G.D. Age-dependent disease expression determines remodeling of the retinal mosaic in carriers of RPGR exon ORF15 mutations. Invest Ophthalmol Vis Sci.,2009; 50(8): 3985-3995.
https://iovs.arvojournals.org/article.aspx?articleid=2186301
Gu D., Beltran W.A., Pearce-Kelling S.E., Li Z., Acland G.M., Aguirre G.D. Steroids do not prevent photoreceptor degeneration in the light exposed T4R rhodopsin mutant dog retina irrespective of AP-1 inhibition. Invest Ophthalmol Vis Sci.,2009; 50(7): 3482- 3494.
https://iovs.arvojournals.org/article.aspx?articleid=2165212
Kukekova A.V., Goldstein O., Johnson J.L., Richardson M.A., Pearce-Kelling S.E., Swaroop A., Friedman J.S., Aguirre G.D., Acland G.M. Canine RD3 mutation establishes rod cone dysplasia type 2 (rcd2) as the canine ortholog of human and murine rd3. Mamm Genome, 2009; 20(2):109-123.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2652121/
Edelhauser H.F., Boatright J.H., Nickerson J.M. and the Third ARVO/Pfizer Research Institute Working Group (incl. G.D. Aguirre). Drug delivery to posterior intraocular tissues: third Annual ARVO/Pfizer Ophthalmics Research Institute Conference. Invest Ophthalmol Vis Sci., 2008; 49(11): 4712-4720.
https://iovs.arvojournals.org/article.aspx?articleid=2125491
Komáromy A.M., Alexander J.J., Cooper A.E., Chiodo V.A., Acland G.M., Hauswirth W.W., Aguirre G.D., Targeting gene expression to cones with human cone opsin promoters in recombinant AAV. Gene Ther., 2008; 15(14):1049-1055.
https://www.nature.com/articles/gt200832
Komáromy A.M., Acland G.M., Aguirre G.D., Operating in the dark: a night vision system for surgery in retinas susceptible to light damage. Arch Ophthalmol., 2008; 126(5):714-717.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665164/
Parker H.G., Kukekova A.V., Akey D.T., Goldstein O., Kirkness E.F., Baysac K.C., Mosher D.S., Aguirre G.D., Acland G.M., Ostrander E.A. Breed relationships facilitate fine mapping studies: a 7.8Kb deletion cosegregates with collie eye anomaly across multiple dog breeds. Genome Res., 2007; 17(11): 1562-1571.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2045139/
Gu D., Beltran W.A., Li Z., Acland G.M., Aguirre G.D. Clinical light exposure, photoreceptor degeneration, and AP-1 activation: a cell death or cell survival signal in the rhodopsin mutant retina? Invest Ophthalmol Vis Sci. 2007 Nov; 48(11):4907-18.
https://iovs.arvojournals.org/article.aspx?articleid=2183495
Jacobson S. G., Aleman T. S., Cideciyan A. V., Heon E., Golczak M., Beltran W.A., Sumaroka A., Schwartz S. B., Roman A. J., Windsor E. A., Wilson J. M., Aguirre G. D., Stone E. M., Palczewski K. Human cone photoreceptor dependence on RPE65 isomerase. Proc Natl Acad Sci U S A 2007; 104(38): 15123-15128.
https://www.ncbi.nlm.nih.gov/pubmed/17848510
Zangerl B., Johnson J.L., Acland G.M. and Aguirre G.D. Independent origin and restricted distribution of RPGR deletions causing XLPRA. J Hered 2007 98(5): 526-530.
https://academic.oup.com/jhered/article/98/5/526/2188633
Guyon R., Pearce-Kelling S.E., Zeiss C.J., Acland G.M. and Aguirre G.D. Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-Linked retinitis pigmentosa 3 (RP3). Mol Vis. 2007; 13:1094-105.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2779147/
Ellinwood N.M., Colle M.A., Weil M.A., Casal M.L., Vite C.H., Wiemelt S., Hasson C.W., O'Malley T.M., He X., Prociuk U., Verot L., Melniczek J.R., Lannon A., Aguirre G.D., Knox V.W., Evans S.M., Vanier M.T., Schuchman E.H., Walkley S.U., Haskins M.E. Bone marrow transplantation for feline mucopolysaccharidosis I. Mol Genet Metab. 91(3): 239-250.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2736908/
Beltran W.A., Wen R., Acland G.M. and Aguirre G.D. Ciliary neurotrophic factor (CNTF) fails to rescue photoreceptors and causes peripheral remodeling in RPGR mutant retina. Exp Eye Res 2007 84(4):753-771.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2709826/
Guziewicz K.E., Zangerl B., Lindauer S.J., Mullins R.F., Sandmeyer L.S., Grahn B.H., Stone E.M., Acland G.M., and Aguirre G.D. Bestrophin gene mutations cause canine multifocal retinopathy, a novel animal model for Best disease. Invest Ophthalmol Vis Sci. 2007 48(5):1959-1967.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1931491/
Hunter L.S., Sidjanin D.J., Villagrasa M., Johnson J.L., Kirkness E., Acland G.M. and Aguirre G.D., Cloning and characterization of canine PAX6 and evaluation as a candidate gene in a canine model of aniridia. Mol Vis. 2007 13:431-442.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2647561/
Aguirre G.K., Komaromy A.M., Cideciyan A.V., Brainard D.H., Alemán T.S., Roman A.J., Avants B.B., Gee J.C., Korczykowski M., Hauswirth W.W., Acland G.M., Aguirre G.D., Jacobson S.G. Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation. PLoS Med 2007 4(6): 1117-1127.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1896221/
Kukekova A.V.,Trut L.N., Oskina I.N., Johnson J.L., Temnykh S.V., Kharlamova A.V., Shepeleva D.V., Gulievich R.G., Shikhevich S.G., Graphodatsky A.S., Aguirre G.D., Acland G.M.A meiotic linkage map of the silver fox, aligned and compared to the canine genome. Genome Res 2007 17(3):387-399.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1800930/
Jacobson S. G., Boye S. L., Aleman T. S., Conlon T. J., Zeiss C. J.;, Roman A. J., Cideciyan A.V., Schwartz S. B., Komaromy A.M., Doobrajh M., Cheung A.Y., Sumaroka A.; Pearce-Kelling S.E., Aguirre G. D., Kaushal S., Maguire A. M., Flotte T. R., Hauswirth W. W. Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber Congenital Amaurosis. Hum Gene Ther. 2006; 17(8): 845-858, 2006.
https://www.liebertpub.com/doi/abs/10.1089/hum.2006.17.845
Komáromy A.M., Varner S.E., de Juan E., Acland G.M.and Aguirre G.D., Application of a new subretinal injection device in the dog. Cell Transplant. 2006; 15(6):511-519.
https://journals.sagepub.com/doi/pdf/10.3727/000000006783981701
Jacobson S.G., Acland G.M., Aguirre G.D., Aleman T.S., Schwartz S.B., Cideciyan A.V., Zeiss C.J., Komaromy A.M., Kaushal S., Roman A.J., Windsor E.A.M., Sumaroka A., Pearce-Kelling S.E., Conlon T.J., Boye S., Flotte T.R., Maguire A.M., Bennett J. and Hauswirth W.W. Safety of Recombinant Adeno-Associated Virus 2-RPE65 Vector Delivered by Ocular Subretinal Injection. Mol Ther. 2006; 13(6):1074-1083.
https://www.sciencedirect.com/science/article/pii/S1525001606000815?via%3Dihub
Zangerl B.A., Sun Q., Pillardy J., Johnson J., Schweitzer P.A., Hernandez A.G., Liu L., Acland G.M.and Aguirre G.D., Development and characterization of a normalized canine retinal cDNA library for genomic and expression studies Invest Ophthalmol Vis Sci. 2006 47(6):2632- 2638.
https://iovs.arvojournals.org/article.aspx?articleid=2125934
Zangerl B., Goldstein O., Philp A.R., Lindauer S.J., Pearce-Kelling S., Graphodatzky A.S., Ripoll D., Felix J., Stone E.M., Acland G. M., Aguirre G.D., Identical mutation in a novel retinal gene causes progressive rod-cone degeneration (prcd) in dogs, and retinitis pigmentosa in man. Genomics 2006 88(5):551-563.
https://www.sciencedirect.com/science/article/pii/S0888754306002084?via%3Dihub
Goldstein O., Zangerl B., Pearce-Kelling S., Sidjanin D.J., Kijas J.W., Felix J., Acland G.M. and Aguirre G.D., Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration (prcd) interval and identifies ancestral disease transmitting chromosome. Genomics 2006; 88(5):541-550.
https://www.sciencedirect.com/science/article/pii/S0888754306001716?via%3Dihub
Beltran W.A., Hammond, P., Acland G.M.and Aguirre G.D., A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2006; 47(4):1669-1681.
https://iovs.arvojournals.org/article.aspx?articleid=2202906
Kukekova A.V.,Nelson, J. Kutchey, R.W., Lowe, J.K., Johnson, J.L., Ostrander, E.O., Aguirre G.D., and Acland G.M.Linkage mapping of canine rod cone dysplasia type 2 (rcd2) to CFA7, the canine ortholog of human 1q31. Invest Ophthalmol Vis Sci. 2006; 47(3):1210-1215.
https://iovs.arvojournals.org/article.aspx?articleid=2183134
Acland G.M., Aguirre G.D., Bennett J., Aleman T.S., Cideciyan A.V., Bennicelli J., Dejneka N.S., Pearce-Kelling S.E., Maguire A.M., Palczewski K., Hauswirth W.W., Jacobson S.G. 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. Mol Ther. 2005; 12(6): 1072-1082.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3647373/
Akhmedov N.V., Yamashita C.K., Tran D., Piri N.I., Aguirre G.D., and Farber D.B. Two forms of the large tumor suppressor gene (Lats1) protein expressed in vertebrate retina. Biochimet Biophys Acta. 2005; 1728(1-2):11-17.
https://www.sciencedirect.com/science/article/pii/S0167478105000035?via%3Dihub
Cideciyan A.V., Jacobson S.G., Aleman, T.S., Gu D., Pearce-Kelling S.E., Sumaroka A., Acland G.M.and Aguirre G.D., In vivo dynamics of retinal injury and repair after 'clinical' light exposure in the rhodopsin mutant dog model of retinitis pigmentosa. Proc Natl Acad Sci USA. 2005; 102(14): 5233-5238.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC555975/
Beltran W.A., Rohrer H., Aguirre G.D., Immunolocalization of Ciliary Neurotrophic Factor Receptor a (CNTFRa) in mammalian photoreceptor cells. Mol Vis. 2005; 11:232- 244.
http://www.molvis.org/molvis/v11/a27/
Graphodatsky A.S., Kukekova A.V.,Yudkin D.V., Trifonov V.A., Vorobieva N.V., Bleklemisheva V.R., Perelman P.L., Graphodatskaya D.A., Trut L.N., Yang F., Ferguson-Smith M.A., Acland G.M., Aguirre G.D., The proto-oncogene C-KIT maps to canid B-chromosomes. Chromosome Res 2005; 13(2):113-22.
https://link.springer.com/article/10.1007%2Fs10577-005-7474-9
Zhu L., Jang G.-F., Jastrzebska B., Filipek S., Pearce-Kelling S.E., Aguirre G.D., Stenkamp R.E., Acland G.M.and Palczewski K. A naturally occurring mutation of the opsin gene (T4R) in dogs affects glycosylation and the stability of the G protein-coupled receptor. J Biol Chem. 2004; 279(51): 53828-39.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1351288/
Casse C., Acland G.M.and Aguirre G.D., Cloning and mapping of canine KIAA1753. Anim Genet 2004; 35(4):58-59.
https://onlinelibrary.wiley.com/doi/full/10.1111/j.1365-2052.2004.01163.x
Kijas J.W., Zangerl B., Miller B., Nelson J. Kirkness E.F., Aguirre G.D., Acland, G.M. Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies. Mol Vis. 2004. 10:223-232.
http://www.molvis.org/molvis/v10/a28/
Mazrier H., van Hoven M., Wang P., Knox V.W., Aguirre G.D., Holt E., Wiemelt S.P., Sleeper M.M., Hubler M., Haskins M.E. and Giger U. Inheritance, biochemical abnormalities and clinical features of feline mucolipidosis II: the first animal model of human I-Cell disease. J Hered. 2003; 94(5):363-373.
https://www.ncbi.nlm.nih.gov/pubmed/14557388
Zhang Q., Beltran W.A., Mao Z., Li K., Johnson J.L. Acland G.M.and Aguirre G.D., Comparative analysis and expression of CLUL1, a cone photoreceptor-specific gene. Invest Ophthalmol Vis Sci. 2003 44(10): 4542-4549.
https://iovs.arvojournals.org/article.aspx?articleid=2181704
Kukekova A.V., Aguirre G.D., Acland G.M. Cloning and characterization of canine SHARP1 and its evaluation as a positional candidate for canine early retinal degeneration (erd). Gene. 2003; 312:335-343.
https://www.sciencedirect.com/science/article/pii/S0378111903006309?via%3Dihub
Kijas J.W., Miller B.J., Pearce-Kelling S.E., Aguirre G.D., Acland, G. M. Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds. J Hered. 2003; 94(1): 27-30.
https://academic.oup.com/jhered/article/94/1/27/2187366
Lowe J.K., Kukekova A.V., Kirkness E.F., Langlois M.C., Aguirre G.D., Acland G.M.and Ostrander E.A. Linkage mapping of the primary disease locus for collie eye anomaly. Genomics 2003; 82(1):86-95.
https://www.sciencedirect.com/science/article/pii/S0888754303000788?via%3Dihub
Beltran W.A., Zhang Q., Kijas J.W., Gu D., Rohrer H., Jordan J.A., Aguirre G.D., Cloning, Mapping, and Retinal Expression of the Canine Ciliary Neurotrophic Factor Receptor a (CNTFRa). Invest Ophthalmol Vis Sci. 2003; 44(8):3642-36-49.
https://iovs.arvojournals.org/article.aspx?articleid=2200210
Sidjanin D.J., MillerB., Kijas J.K., McElwee J., Pillardy J., Malek J., Pai G., Feldblyum T., Fraser C., Acland G. and Aguirre G.D. Radiation Hybrid Map, Physical Map and Low-Pass Genomic Sequence of the Canine prcd Region on CFA9, and Comparative Mapping with the Syntenic Region on Human Chromosome 17. Genomics 2003; 81(2):138-148.
https://www.sciencedirect.com/science/article/pii/S0888754302000289?via%3Dihub
Li K., Zhang Q., Johnson, J. and Aguirre, G. Comparative Analysis, Gene Organization and Expression of Canine TCTE1L. Gene 2003; 303: 207-212.
https://www.sciencedirect.com/science/article/pii/S0378111902011459?via%3Dihub
Switonski M., Konieczny P., Klukowska J., Janyga B. and Aguirre G. Microdeletion in the RPE65 gene causing hereditary retinal dystrophy (HRD) disease segregates in the Polish population of briards. Medycyna Wet. 2002; 58: 946-949.
http://www.medycynawet.edu.pl/archives/10-contents/contents-2002/2769-contents-medycyna-wet-58-12-913-1004-2002
Ho T.T., Maguire A.M., Aguirre G.D., Surace E.M., Anand V., Zeng Y., Salvetti A., Hopwood J.J., Haskins M.E. and Bennett J. Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI. J Gene Med. 2002;4(6):613-621.
https://onlinelibrary.wiley.com/doi/full/10.1002/jgm.302
Tao W. , Wen R. Goddard M.B., Sherman S.D., O'Rourke P.J., Stabila P.F., Bell W.J., Dean B.J., Kauper K.A., Budz V.A., Tsiaras W.G., Acland G.M., Pearce-Kelling S., Laties A.M. and Aguirre G.D., Encapsulated Cell-Based Delivery of CNTF Reduces Photoreceptor Degeneration in Animal Models of Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2002; 43(10):3292-3298.
https://iovs.arvojournals.org/article.aspx?articleid=2123087
Aguirre G.D.,Yashar B., John S., Smith J., Breuer D., Hiriyanna S., Swaroop A., and Milam A. Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15. Exp Eye Res 2002; 75(4): 431-443.
https://www.sciencedirect.com/science/article/pii/S0014483502920373
Sidjanin D.J., Lowe J., McElwee J., Milne B., Phippen T., Sargan D., Aguirre G.D., Acland G.M., and Ostrander E.A. Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum Mol Genet. 2002; 11(16):1823-1833.
https://academic.oup.com/hmg/article/11/16/1823/657255
Zangerl B., Zhang Q., Pearce-Kelling S. and Aguirre G.D., Molecular cloning, characterization and mapping of the canine glucocorticoid receptor DNA binding factor 1 (GRLF1). Gene 2002; 294(1-2):167-176.
https://www.sciencedirect.com/science/article/pii/S0378111902007655?via%3Dihub
Sidjanin D.J., Zangerl B., Johnson J.L., Xue F., Mellersh C., Ostrander E.A., Acland G., and Aguirre G.D., Cloning of the canine delta tubulin cDNA (TUBD) and mapping to CFA9. Anim Genet. 33(2):161-162.
https://onlinelibrary.wiley.com/doi/full/10.1046/j.1365-2052.2002.0831d.x
Zhang Q., Acland G.M., Wu W.X., Johnson J.L. Pearce-Kelling S., Tulloch B., Vervoort R., Wright A.F., Aguirre G.D., Different RPGR exon ORF15 Mutations in Canids Provide Insights into Photoreceptor Cell Degeneration Hum Mol Genet. 2002; 11(9):993-1003.
https://academic.oup.com/hmg/article/11/9/993/2901641
Kijas J.W., Cideciyan A.V., Aleman T.S., Pianta M.J., Pearce-Kelling S.E., Miller B.J., Jacobson S.G., Aguirre G.D., Acland G.M. Naturally-occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa Proc Natl Acad Sci U S A. 2002; 99(9):6328-6333.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC122948/
Akhmedov N., Baldwin V., Zangerl B., Kijas J., Hunter L., Minoofar K., Mellersh C., Ostrander E., Acland G., Farbe, D., Aguirre G. Cloning and characterization of the canine photoreceptor-specific cone-rod homeobox (CRX) gene and evaluation as a candidate for early onset photoreceptor diseases in the dog. Mol Vis. 2002; 8:79-84.
http://www.molvis.org/molvis/v8/a11/
Zangerl B., Zhang Q., Acland G.M., Aguirre G.D., Characterization of three microsatellite loci linked to the canine RP3 interval. J Hered 2002; 93(1): 70-73.
https://academic.oup.com/jhered/article/93/1/70/2187465
Verdugo M.E., Scarpino V., Moullier P., Haskins M.E., Aguirre G.D., Ray J. Adenoviral vector-mediated beta-glucuronidase cDNA transfer to treat MPS VII RPE in vitro. Curr Eye Res. 2001 23(5):357-367.
https://www.ncbi.nlm.nih.gov/pubmed/11910525
Sidjanin D.J., Xue F., McElwee J., Johnson J.L., Holmgren C., Mellersh C., Ostrander E., Acland G.M., Aguirre G.D., Cloning of canine gamma tubulin (TUBG1) cDNA and mapping to CFA9. Anim Genet. 2001; 32(5):328-329.
https://onlinelibrary.wiley.com/doi/full/10.1046/j.1365-2052.2001.0730j.x
Milam A.H., De Castro E.B., Smith J.E., Tang W.-X., John S.K., Gorin M.B., Stone E.M., Aguirre G.D., Jacobson S.G. Concentric retinitis pigmentosa: clinicopathologic correlations. Exp Eye Res. 2001; 73(4): 493-508.
https://www.sciencedirect.com/science/article/pii/S0014483501910590?via%3Dihub
Zhang Q., Acland G.M., Zangerl B., Johnson J.L., Mao Z., Zeiss C.Z., Ostrander E.A., Aguirre G.D., Fine Mapping of Canine XLPRA Establishes Homology of the Human and Canine RP3 Intervals. Invest Ophthalmol Vis Sci. 2001; 42(11):2466-2471.
https://iovs.arvojournals.org/article.aspx?articleid=2200102
Acland G.M., Aguirre G.D., Ray J., Zhang Q., Aleman T.S., Cideciyan A.V., Pearce- Kelling S.E., Anand V., Zeng Y., Maguire A.M., Jacobson S.G. Hauswirth W.W., Bennett J. Gene Therapy Restores Vision in a Canine Model of Childhood Blindness. Nat Genet 2001;28(1):92-95.
https://www.nature.com/articles/ng0501-92
Pearce-Kelling S.E., Aleman T.S., Nickle A., Laties A.M., Aguirre G.D., Jacobson S.G. and Acland G.M. Calcium channel blocker D-cis-diltiazem does not slow retinal degeneration in the PDE6B mutant rcd1 canine model of retinitis pigmentosa. Mol Vis. 2001; 7:42-47.
http://www.molvis.org/molvis/v7/a7/
Verdugo M.E., Alling J., Lazar E.S., del Cerro M., Ray J. and Aguirre G. Posterior segment approach for subretinal transplantation or injection in the canine model. Cell Transplant. 2001 10(3):317-327.
https://pdfs.semanticscholar.org/f24b/cfafa09598829e3295708f43c89e85b1841f.pdf
Kakkis E.D., Schuchman E.H., He X., Wan Q., Kania S., Wiemelt S.,Hasson C.W., O'Malley T., Weil M.A., Aguirre G.D., Brown D.E., Haskins M.E. Enzyme replacement therapy of feline mucopolysaccharidosis I. Mol Genet Metab 2001; 72(3): 199-208.
https://www.sciencedirect.com/science/article/pii/S1096719200931408?via%3Dihub
Syed N., Smith J.E., John S.K., Seabra M.C., Aguirre G.D., Milam, A.H. Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. Ophthalmology 2001; 108(4):711-720.
https://www.sciencedirect.com/science/article/pii/S0161642000006436?via%3Dihub
