Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa

Authors: MICHAELIDES, MICHEL, BESIRLI, CAGRI G., YANG, YESA, DE GUIMARAES, THALES A.C., WONG, SUI CHIEN, HUCKFELDT, RACHEL M., COMANDER, JASON I., SAHEL, JOSÉ-ALAIN, SHAH, SYED MAHMOOD, TEE, JAMES J.L., KUMARAN, NERUBAN, GEORGIADIS, ANASTASIOS, MINNICK, PANSY, ZELDIN, ROBERT, NAYLOR, STUART, XU, JIALIN, CLARK, MICHAEL, ANGLADE, EDDY, WONG, PEGGY, FLECK, PENNY R., FUNG, ALBERT, PELUSO, COLLEEN, KALITZEOS, ANGELOS, GEORGIOU, MICHALIS, RIPAMONTI, CATERINA, SMITH, ALEXANDER J., ALI, ROBIN R., FORBES, ALEXANDRIA, BAINBRIDGE, JAMES

Source: In American Journal of Ophthalmology November 2024 267:122-134

First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia

Authors: Michaelides, Michel, Hirji, Nashila, Wong, Sui Chien, Besirli, Cagri G., Zaman, Serena, Kumaran, Neruban, Georgiadis, Anastasios, Smith, Alexander J., Ripamonti, Caterina, Gottlob, Irene, Robson, Anthony G., Thiadens, Alberta, Henderson, Robert H., Fleck, Penny, Anglade, Eddy, Dong, Xiangwen, Capuano, George, Lu, Wentao, Berry, Pamela, Kane, Thomas, Naylor, Stuart, Georgiou, Michalis, Kalitzeos, Angelos, Ali, Robin R., Forbes, Alexandria, Bainbridge, James

Source: American journal of ophthalmology. 253:243-251

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100195431269.0x000001&indx=1&recIds=ETOCvdc_100195431269.0x000001

Gene Supplementation in Mice Heterozygous for the D477G RPE65 Variant Implicated in Autosomal Dominant Retinitis Pigmentosa

Authors: Feathers, Kecia L., Jia, Lin, Khan, Naheed W., Smith, Alexander J., Ma, Jian-Xing, Ali, Robin R., Thompson, Debra A.

Source: Human gene therapy. 34(13/14):639-648

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187257279.0x000001&indx=1&recIds=ETOCvdc_100187257279.0x000001

In vivo measurement of mitochondrial ROS production in mouse models of photoreceptor degeneration

Authors: Menger, Katja E., Logan, Angela, Luhmann, Ulrich F.O., Smith, Alexander J., Wright, Alan F., Ali, Robin R., Murphy, Michael P.

Source: In Redox Biochemistry and Chemistry December 2023 5-6

Differentiation of brain and retinal organoids from confluent cultures of pluripotent stem cells connected by nerve-like axonal projections of optic origin

Authors: Fernando, Milan, Lee, Scott, Wark, Jesse R., Xiao, Di, Lim, Benjamin Y., O'Hara-Wright, Michelle, Kim, Hani J., Smith, Grady C., Wong, Ted, Teber, Erdahl T., Ali, Robin R., Yang, Pengyi, Graham, Mark E., Gonzalez-Cordero, Anai

Source: Stem cell reports. 17(6):1476-1492

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185315151.0x000001&indx=1&recIds=ETOCvdc_100185315151.0x000001

Antioxidant and lipid supplementation improve the development of photoreceptor outer segments in pluripotent stem cell-derived retinal organoids

Authors: West, Emma L., Majumder, Paromita, Naeem, Arifa, Fernando, Milan, O'Hara-Wright, Michelle, Lanning, Emily, Kloc, Magdalena, Ribeiro, Joana, Ovando-Roche, Patrick, Shum, Ian O., Jumbu, Neeraj, Sampson, Robert, Hayes, Matt, Bainbridge, James W.B., Georgiadis, Anastasios, Smith, Alexander J., Gonzalez-Cordero, Anai, Ali, Robin R.

Source: Stem cell reports. 17(4):775-788

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100161521968.0x000001&indx=1&recIds=ETOCvdc_100161521968.0x000001

mTORC1 regulates high levels of protein synthesis in retinal ganglion cells of adult mice

Authors: Fort, Patrice E., Losiewicz, Mandy K., Elghazi, Lynda, Kong, Dejuan, Cras-Méneur, Corentin, Fingar, Diane C., Kimball, Scot R., Rajala, Raju V.S., Smith, Alexander J., Ali, Robin R., Abcouwer, Steven F., Gardner, Thomas W.

Source: In Journal of Biological Chemistry June 2022 298(6)

Intravitreal administration of recombinant human opticin protects against hyperoxia-induced pre-retinal neovascularization

Authors: Klaska, Izabela P., White, Anne, Villacampa, Pilar, Hoke, Justin, Abelleira-Hervas, Laura, Maswood, Ryea N., Ali, Robin R., Bunce, Catey, Unwin, Richard D., Cooper, Garth J.S., Bishop, Paul N., Bainbridge, James W.

Source: In Experimental Eye Research February 2022 215

Repeated nuclear translocations underlie photoreceptor positioning and lamination of the outer nuclear layer in the mammalian retina

Authors: Aghaizu, Nozie D., Warre-Cornish, Katherine M., Robinson, Martha R., Waldron, Paul V., Maswood, Ryea N., Smith, Alexander J., Ali, Robin R., Pearson, Rachael A.

Source: In Cell Reports 3 August 2021 36(5)

Restoration of visual function in advanced disease after transplantation of purified human pluripotent stem cell-derived cone photoreceptors

Authors: Ribeiro, Joana, Procyk, Christopher A., West, Emma L., O’Hara-Wright, Michelle, Martins, Monica F., Khorasani, Majid Moshtagh, Hare, Aura, Basche, Mark, Fernando, Milan, Goh, Debbie, Jumbo, Neeraj, Rizzi, Matteo, Powell, Kate, Tariq, Menahil, Michaelides, Michel, Bainbridge, James W.B., Smith, Alexander J., Pearson, Rachael A., Gonzalez-Cordero, Anai, Ali, Robin R.

Source: In Cell Reports 20 April 2021 35(3)

RNAi‐mediated suppression of vimentin or glial fibrillary acidic protein prevents the establishment of Müller glial cell hypertrophy in progressive retinal degeneration

Authors: Hippert, Claire, Graca, Anna B., Basche, Mark, Kalargyrou, Aikaterini A., Georgiadis, Anastasios, Ribeiro, Joana, Matsuyama, Ayako, Aghaizu, Nozie, Bainbridge, James W., Smith, Alexander J., Ali, Robin R., Pearson, Rachael A.

Source: Glia. 69(9):2272-2290

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123866264.0x000001&indx=1&recIds=ETOCvdc_100123866264.0x000001

Experimental gene therapies for the NCLs

Authors: Liu, Wenfei, kleine-Holthaus, Sophia-Martha, Herranz-Martin, Saul, Aristorena, Mikel, Mole, Sara E., Smith, Alexander J., Ali, Robin R., Rahim, Ahad A.

Source: In BBA - Molecular Basis of Disease 1 September 2020 1866(9)

Gene Therapy for Glaucoma by Ciliary Body Aquaporin 1 Disruption Using CRISPR-Cas9

Authors: Wu, Jiahui, Bell, Oliver H., Copland, David A., Young, Alison, Pooley, John R., Maswood, Ryea, Evans, Rachel S., Khaw, Peng Tee, Ali, Robin R., Dick, Andrew D., Chu, Colin J.

Source: In Molecular Therapy 4 March 2020 28(3):820-829

Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses
Retinal degeneration

Authors: Holthaus, Sophia-Martha kleine, Smith, Alexander J., Mole, Sara E., Ali, Robin R.

Source: Advances in experimental medicine and biology. 1074:91-100

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCCN603665260&indx=1&recIds=ETOCCN603665260

Stabilization of myeloid-derived HIFs promotes vascular regeneration in retinal ischemia

Authors: Villacampa, Pilar, Liyanage, Sidath E., Klaska, Izabela P., Cristante, Enrico, Menger, Katja E., Sampson, Robert D., Barlow, Maeve, Abelleira-Hervas, Laura, Duran, Yanai, Smith, Alexander J., Ali, Robin R., Luhmann, Ulrich F. O., Bainbridge, James W. B.

Source: Angiogenesis. 23(2):83-90

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168238462.0x000001&indx=1&recIds=ETOCvdc_100168238462.0x000001

Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease

Authors: kleine Holthaus, Sophia-Martha, Aristorena, Mikel, Maswood, Ryea, Semenyuk, Olha, Hoke, Justin, Hare, Aura, Smith, Alexander J., Mole, Sara E., Ali, Robin R.

Source: Human gene therapy. 31(13/14):709-718

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100152111355.0x000001&indx=1&recIds=ETOCvdc_100152111355.0x000001

RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP)

Authors: Moreno-Leon, Laura, West, Emma L, O'Hara-Wright, Michelle, Li, Linjing, Nair, Rohini, He, Jie, Anand, Manisha, Sahu, Bhubanananda, Chavali, Venkat Ramana Murthy, Smith, Alexander J, Ali, Robin R, Jacobson, Samuel G, Cideciyan, Artur V, Khanna, Hemant

Source: Human molecular genetics. 29(22):3706-3716

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100135737022.0x000001&indx=1&recIds=ETOCvdc_100135737022.0x000001

Unlocking the Potential for Endogenous Repair to Restore Sight

Authors: Pearson, Rachael A., Ali, Robin R.

Source: In Neuron 7 November 2018 100(3):524-526

Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration

Authors: Mehat, Manjit S., Sundaram, Venki, Ripamonti, Caterina, Robson, Anthony G., Smith, Alexander J., Borooah, Shyamanga, Robinson, Martha, Rosenthal, Adam N., Innes, William, Weleber, Richard G., Lee, Richard W.J., Crossland, Michael, Rubin, Gary S., Dhillon, Baljean, Steel, David H.W., Anglade, Eddy, Lanza, Robert P., Ali, Robin R., Michaelides, Michel, Bainbridge, James W.B.

Source: In Ophthalmology November 2018 125(11):1765-1775

Regenerating Eye Tissues to Preserve and Restore Vision

Authors: Stern, Jeffrey H., Tian, Yangzi, Funderburgh, James, Pellegrini, Graziella, Zhang, Kang, Goldberg, Jeffrey L., Ali, Robin R., Young, Michael, Xie, Yubing, Temple, Sally

Source: In Cell Stem Cell 1 June 2018 22(6):834-849