Publications by authors named "Robin Ali"

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Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration.
Wenfei Liu, Amy F Geard, Giulia Massaro, Michael P Hughes, Mikel Aristorena, Robin R Ali

Hum Gene Ther· December 2025

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Stromal Gene Therapy Mediates Prolonged Protection Against Corneal Neovascularization Induced by an Aggressive Angiogenic Insult.
Mark Basche, Scott Robbie, D Frank P Larkin, Alexander J Smith, Rachael A Pearson, Robin R Ali

Hum Gene Ther· October 2025

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Human macula formation involves two waves of retinoic acid suppression via CYP26A1 that modulate cell cycle exit and cone subtype specification.
Philippa Harding, Maja Wojtynska, Alexander J Smith, Robin R Ali, Rachael A Pearson

Stem Cell Reports· October 2025

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Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium.
Debra A Thompson, K Thiran Jayasundera, Oleg Alekseev, Robin R Ali, Alessia Amato

Transl Vis Sci Technol· August 2025

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Characterization of Bruch's Membrane Formation in Human Fetal Retina and De Novo Membrane Synthesis by hPSC-Derived Retinal Pigment Epithelium.
Emily P Lanning, Matthew J Branch, Philippa Harding, Miriam Margari, Alexander J Smith, Robin R Ali

Invest Ophthalmol Vis Sci· June 2025

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Human cone photoreceptor transplantation stimulates remodeling and restores function in AIPL1 model of end-stage Leber congenital amaurosis.
Christopher A Procyk, Anna Melati, Joana Ribeiro, Jingshu Liu, Matthew J Branch, Robin R Ali

Stem Cell Reports· April 2025

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LRG1 Alters Pericyte Phenotype and Compromises Vascular Maturation.
Alexandra E Hoeh, Jui-Hsien Chang, Ronja S Mueller, Mark Basche, Alessandro Fantin, Robin R Ali

Cells· April 2025

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Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study.
Michel Michaelides, Yannik Laich, Sui Chien Wong, Ngozi Oluonye, Serena Zaman, Angelos Kalitzeos, Michalis Georgiou, Robin R Ali

Lancet· February 2025

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Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa.
Michel Michaelides, Cagri G Besirli, Yesa Yang, Thales A C DE Guimaraes, Sui Chien Wong, Jialin Xu, Angelos Kalitzeos, Michalis Georgiou, Robin R Ali

Am J Ophthalmol· November 2024

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Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia.
Maide Ö Raeker, Nirosha D Perera, Athanasios J Karoukis, Lisheng Chen, Kecia L Feathers, Robin R Ali

Cells· June 2024

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PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects.
Robert Atkinson, Maria Georgiou, Chunbo Yang, Katarzyna Szymanska, Albert Lahat, Robin R Ali

Nat Commun· April 2024

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A protocol for isolation and culturing of mouse primary postmitotic photoreceptors and isolation of extracellular vesicles.
Aikaterini A Kalargyrou, Ayako Matsuyama, Emily P Lanning, Mahmoud Khazim, Siobhan Guilfoyle, Robin R Ali

STAR Protoc· March 2024

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measurement of mitochondrial ROS production in mouse models of photoreceptor degeneration.
Katja E Menger, Angela Logan, Ulrich F O Luhmann, Alexander J Smith, Alan F Wright, Robin R Ali

Redox Biochem Chem· December 2023

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Correction: The Tight Junction Associated Signalling Proteins ZO-1 and ZONAB Regulate Retinal Pigment Epithelium Homeostasis in Mice.
Anastasios Georgiadis, Marion Tschernutter, James W B Bainbridge, Kamaljit S Balaggan, Freya Mowat, Robin R Ali

PLoS One· December 2023

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-Related Retinopathy: Clinical Features, Molecular Genetics, and Gene Replacement Therapy.
Shaima Awadh Hashem, Michalis Georgiou, Robin R Ali, Michel Michaelides

Cold Spring Harb Perspect Med· November 2023

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Role of HIF1α and HIF2α in Cre Recombinase-Induced Retinal Pigment Epithelium Pathology and Its Secondary Effect on Choroidal Neovascularization.
Enrico Cristante, Sidath E Liyanage, Alexander J Smith, Robin R Ali, James W B Bainbridge

Am J Pathol· November 2023

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First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia.
Michel Michaelides, Nashila Hirji, Sui Chien Wong, Cagri G Besirli, Serena Zaman, Michalis Georgiou, Angelos Kalitzeos, Robin R Ali

Am J Ophthalmol· September 2023

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Gene Supplementation in Mice Heterozygous for the D477G RPE65 Variant Implicated in Autosomal Dominant Retinitis Pigmentosa.
Kecia L Feathers, Lin Jia, Naheed W Khan, Alexander J Smith, Jian-Xing Ma, Robin R Ali

Hum Gene Ther· July 2023

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Extracellular vesicles in the retina - putative roles in physiology and disease.
Aikaterini A Kalargyrou, Siobhan E Guilfoyle, Alexander J Smith, Robin R Ali, Rachael A Pearson

Front Mol Neurosci· January 2023

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Spatiotemporal control of actomyosin contractility by MRCKβ signaling drives phagocytosis.
Ceniz Zihni, Anastasios Georgiadis, Conor M Ramsden, Elena Sanchez-Heras, Alexis J Haas, Robin R Ali

J Cell Biol· November 2022

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Oxidative stress differentially impacts apical and basolateral secretion of angiogenic factors from human iPSC-derived retinal pigment epithelium cells.
Lisheng Chen, N Dayanthi Perera, Athanasios J Karoukis, Kecia L Feathers, Robin R Ali

Sci Rep· July 2022

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mTORC1 regulates high levels of protein synthesis in retinal ganglion cells of adult mice.
Patrice E Fort, Mandy K Losiewicz, Lynda Elghazi, Dejuan Kong, Corentin Cras-Méneur, Robin R Ali

J Biol Chem· June 2022

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Differentiation of brain and retinal organoids from confluent cultures of pluripotent stem cells connected by nerve-like axonal projections of optic origin.
Milan Fernando, Scott Lee, Jesse R Wark, Di Xiao, Benjamin Y Lim, Robin R Ali

Stem Cell Reports· June 2022

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Antioxidant and lipid supplementation improve the development of photoreceptor outer segments in pluripotent stem cell-derived retinal organoids.
Emma L West, Paromita Majumder, Arifa Naeem, Milan Fernando, Michelle O'Hara-Wright, Robin R Ali

Stem Cell Reports· April 2022

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Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells.
Maria Georgiou, Chunbo Yang, Robert Atkinson, Kuan-Ting Pan, Adriana Buskin, Robin Ali

Clin Transl Med· March 2022

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