Search Results - "Iwabe, Simone"

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement by Cideciyan, Artur V., Jacobson, Samuel G., Beltran, William A., Sumaroka, Alexander, Swider, Malgorzata, Iwabe, Simone, Roman, Alejandro J., Olivares, Melani B., Schwartz, Sharon B., Komáromy, András M., Hauswirth, William W., Aguirre, Gustavo D.

“…Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific protein 65 kDa (RPE65) mutations is a severe hereditary blindness…”
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scAAVengr, a transcriptome-based pipeline for quantitative ranking of engineered AAVs with single-cell resolution by Öztürk, Bilge E, Johnson, Molly E, Kleyman, Michael, Turunç, Serhan, He, Jing, Jabalameli, Sara, Xi, Zhouhuan, Visel, Meike, Dufour, Valérie L, Iwabe, Simone, Pompeo Marinho, Luis Felipe L, Aguirre, Gustavo D, Sahel, José-Alain, Schaffer, David V, Pfenning, Andreas R, Flannery, John G, Beltran, William A, Stauffer, William R, Byrne, Leah C

“…Adeno-associated virus (AAV)-mediated gene therapies are rapidly advancing to the clinic, and AAV engineering has resulted in vectors with increased ability to…”
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Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa by Beltran, William A., Cideciyan, Artur V., Lewin, Alfred S., Iwabe, Simone, Khanna, Hemant, Sumaroka, Alexander, Chiodo, Vince A., Fajardo, Diego S., Román, Alejandro J., Deng, Wen-Tao, Swider, Malgorzata, Alemán, Tomas S., Boye, Sanford L., Genini, Sem, Swaroop, Anand, Hauswirth, William W., Jacobson, Samuel G., Aguirre, Gustavo D.

“…Hereditary retinal blindness is caused by mutations in genes expressed in photoreceptors or retinal pigment epithelium. Gene therapy in mouse and dog models of…”
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Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis by Aguirre, Gustavo D., Cideciyan, Artur V., Dufour, Valérie L., Ripolles-García, Ana, Sudharsan, Raghavi, Swider, Malgorzata, Nikonov, Roman, Iwabe, Simone, Boye, Sanford L., Hauswirth, William W., Jacobson, Samuel G., Beltran, William A.

“…The inherited childhood blindness caused by mutations in NPHP5, a form of Leber congenital amaurosis, results in abnormal development, dysfunction, and…”
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Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease by Beltran, William A., Cideciyan, Artur V., Iwabe, Simone, Swider, Malgorzata, Kosyk, Mychajlo S., McDaid, Kendra, Martynyuk, Inna, Ying, Gui-Shuang, Shaffer, James, Deng, Wen-Tao, Boye, Sanford L., Lewin, Alfred S., Hauswirth, William W., Jacobson, Samuel G., Aguirre, Gustavo D.

“…Inherited retinal degenerations cause progressive loss of photoreceptor neurons with eventual blindness. Corrective or neuroprotective gene therapies under…”
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Canine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerations by Beltran, William A, Cideciyan, Artur V, Guziewicz, Karina E, Iwabe, Simone, Swider, Malgorzata, Scott, Erin M, Savina, Svetlana V, Ruthel, Gordon, Stefano, Frank, Zhang, Lingli, Zorger, Richard, Sumaroka, Alexander, Jacobson, Samuel G, Aguirre, Gustavo D

“…Retinal areas of specialization confer vertebrates with the ability to scrutinize corresponding regions of their visual field with greater resolution. A highly…”
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Recombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects by Guziewicz, Karina E, Zangerl, Barbara, Komáromy, András M, Iwabe, Simone, Chiodo, Vincent A, Boye, Sanford L, Hauswirth, William W, Beltran, William A, Aguirre, Gustavo D

“…Mutations in the BEST1 gene constitute an underlying cause of juvenile macular dystrophies, a group of retinal disorders commonly referred to as…”
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Photochemical Restoration of Light Sensitivity in the Degenerated Canine Retina by Nikonov, Sergei, Dolgova, Natalia, Sudharsan, Raghavi, Tochitsky, Ivan, Iwabe, Simone, Guzman, Jose-Manuel, Van Gelder, Russell N, Kramer, Richard H, Aguirre, Gustavo D, Beltran, William A

“…Photopharmacological compounds such as azobenzene-based photoswitches have been shown to control the conductivity of ionic channels in a light-dependent manner…”
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Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector by Cideciyan, Artur V., Sudharsan, Raghavi, Dufour, Valérie L., Massengill, Michael T., Iwabe, Simone, Swider, Malgorzata, Lisi, Brianna, Sumaroka, Alexander, Marinho, Luis Felipe, Appelbaum, Tatyana, Rossmiller, Brian, Hauswirth, William W., Jacobson, Samuel G., Lewin, Alfred S., Aguirre, Gustavo D., Beltran, William A.

“…Inherited retinal degenerations are caused by mutations in >250 genes that affect photoreceptor cells or the retinal pigment epithelium and result in vision…”
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Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy by Gardiner, Kristin L., Cideciyan, Artur V., Swider, Malgorzata, Dufour, Valérie L., Sumaroka, Alexander, Komáromy, András M., Hauswirth, William W., Iwabe, Simone, Jacobson, Samuel G., Beltran, William A., Aguirre, Gustavo D.

“…The form of hereditary childhood blindness Leber congenital amaurosis (LCA) caused by biallelic RPE65 mutations is considered treatable with a gene therapy…”
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BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure by Guziewicz, Karina E., Cideciyan, Artur V., Beltran, William A., Komáromy, András M., Dufour, Valerie L., Swider, Malgorzata, Iwabe, Simone, Sumaroka, Alexander, Kendrick, Brian T., Ruthel, Gordon, Chiodo, Vince A., Héon, Elise, Hauswirth, William W., Jacobson, Samuel G., Aguirre, Gustavo D.

“…Mutations in the BEST1 gene cause detachment of the retina and degeneration of photoreceptor (PR) cells due to a primary channelopathy in the neighboring…”
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Quantitative and qualitative characterization of retinal dystrophies in canine models of inherited retinal diseases using spectral domain optical coherence tomography (SD-OCT) by Park, Shin Ae, Rhodes, Jamie, Iwabe, Simone, Ying, Gui-Shuang, Pan, Wei, Huang, Jiayan, Komáromy, András M.

“…The purpose of this study was to establish spectral domain optical coherence tomography (SD-OCT) assessment data in well-established canine models of inherited…”
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Targeting ON-bipolar cells by AAV gene therapy stably reverses LRIT3 -congenital stationary night blindness by Miyadera, Keiko, Santana, Evelyn, Roszak, Karolina, Iffrig, Sommer, Visel, Meike, Iwabe, Simone, Boyd, Ryan F, Bartoe, Joshua T, Sato, Yu, Gray, Alexa, Ripolles-Garcia, Ana, Dufour, Valérie L, Byrne, Leah C, Flannery, John G, Beltran, William A, Aguirre, Gustavo D

“…SignificanceCanine models of inherited retinal diseases have helped advance adeno-associated virus (AAV)-based gene therapies targeting specific cells in the…”
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Consensus guidelines for nomenclature of companion animal inherited retinal disorders by Mowat, Freya M, Iwabe, Simone, Aguirre, Gustavo D, Petersen-Jones, Simon M

“…Companion animals, namely dogs, cats, and horses, can be affected with many forms of hereditary retinal disease. The number of such diseases characterized in…”
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Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations by Beltran, William A., Cideciyan, Artur V., Boye, Shannon E., Ye, Guo-Jie, Iwabe, Simone, Dufour, Valerie L., Marinho, Luis Felipe, Swider, Malgorzata, Kosyk, Mychajlo S., Sha, Jin, Boye, Sanford L., Peterson, James J., Witherspoon, C. Douglas, Alexander, John J., Ying, Gui-Shuang, Shearman, Mark S., Chulay, Jeffrey D., Hauswirth, William W., Gamlin, Paul D., Jacobson, Samuel G., Aguirre, Gustavo D.

“…X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene is an early onset and severe cause of blindness. Successful proof-of-concept studies…”
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Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation by Downs, Louise M, Scott, Erin M, Cideciyan, Artur V, Iwabe, Simone, Dufour, Valerie, Gardiner, Kristin L, Genini, Sem, Marinho, Luis Felipe, Sumaroka, Alexander, Kosyk, Mychajlo S, Swider, Malgorzata, Aguirre, Geoffrey K, Jacobson, Samuel G, Beltran, William A, Aguirre, Gustavo D

“…Ciliary defects can result in severe disorders called ciliopathies. Mutations in NPHP5 cause a ciliopathy characterized by severe childhood onset retinal…”
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Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis by Aguirre, Gustavo D., Cideciyan, Artur V., Dufour, Valérie L., Ripolles-García, Ana, Sudharsan, Raghavi, Swider, Malgorzata, Nikonov, Roman, Iwabe, Simone, Boye, Sanford L., Hauswirth, William W., Jacobson, Samuel G., Beltran, William A.

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Assessment of Rod, Cone, and Intrinsically Photosensitive Retinal Ganglion Cell Contributions to the Canine Chromatic Pupillary Response by Yeh, Connie Y, Koehl, Kristin L, Harman, Christine D, Iwabe, Simone, Guzman, José M, Petersen-Jones, Simon M, Kardon, Randy H, Komáromy, András M

“…The purpose of this study was to evaluate a chromatic pupillometry protocol for specific functional assessment of rods, cones, and intrinsically photosensitive…”
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Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology by Das, Rueben G., Marinho, Felipe Pompeo, Iwabe, Simone, Santana, Evelyn, McDaid, Kendra Sierra, Aguirre, Gustavo D., Miyadera, Keiko

“…Defects in the cilia gene RPGRIP1 cause Leber congenital amaurosis and cone-rod dystrophy in humans. A form of canine cone-rod dystrophy (cord1) was originally…”
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Assessment of visual function and retinal structure following acute light exposure in the light sensitive T4R rhodopsin mutant dog by Iwabe, Simone, Ying, Gui-Shuang, Aguirre, Gustavo D., Beltran, William A.

“…The effect of acute exposure to various intensities of white light on visual behavior and retinal structure was evaluated in the T4R RHO dog, a…”
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