Associated Papers
Axin1 stabilizes S-opsin and maintains cone photoreceptor survival by inhibiting GSK3β activity.
Xu J et al.
Cell Death Discovery, 2026
Acid sphingomyelinase inhibition restores RPE homeostasis and photoreceptor function in preclinical Stargardt macular degeneration models.
Germer CJ et al.
Biorxiv : the Preprint Server for Biology, 2026
Atf6 -/- mouse photoreceptors exhibit novel ciliary rootlet defect.
Bradley A et al.
Biorxiv : the Preprint Server for Biology, 2026
CRISPR as a therapeutic tool for inherited retinal degenerations: Advances, challenges, and future directions.
Galdikaite-Braziene E et al.
Molecular Aspects of Medicine, 2026
Functional rescue and AI analysis of a human inactivating GPCR mutation using a small molecule.
Das D et al.
Embo Molecular Medicine, 2026
Ocular delivery of different valosin-containing protein (VCP) inhibitory formulations prevents retinal degeneration in rho∆I255 mice.
Cao B et al.
Journal of Controlled Release : Official Journal of the Controlled Release Society, 2026
Selective deletion of Slc2a1 from the RPE reveals that rods but not cones depend on glucose transport across the outer blood-retinal barrier.
Daniele LL et al.
Iscience, 2026
Early Rod Dysfunction Influences Cone Development in a Rhodopsin P23H Mouse Model of Retinitis Pigmentosa.
Brunet AA et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
Safety and neuroprotective efficacy of the VCP inhibitor ML240 in large-animal and human retinal explants: a preclinical ex vivo study.
Almansa-García AC et al.
Bmc Medicine, 2026
Development and Validation of a Commercially Available Two Color Dark Adapted Perimetry to Assess Inherited Retinal Degenerations.
Pennesi ME et al.
American Journal of Ophthalmology, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Quinodoz M et al.
Nature Genetics, 2026
Expanding the clinical and genetic spectrum of RHO-associated retinitis pigmentosa.
Amaral RAS et al.
Experimental Biology and Medicine (maywood, N.j.), 2026
Geographic and Phenotypic Variability in RHO-Associated Retinopathy: Evidence From a Chinese Cohort and Global Literature.
Hang C et al.
American Journal of Ophthalmology, 2025
Therapeutic Potential of Partial Retinoid Agonists against Vertebrate Rhodopsin Misfolding Disorders.
Pashandi Z et al.
Acs Omega, 2025
A Survey of Opsin Localization, Glycosylation, and Light/Chromophore Influence on Degeneration in 26 Rhodopsin-Associated RP Models.
Loewen AD et al.
Investigative Ophthalmology & Visual Science, 2025
Antisense oligonucleotides for inherited retinal diseases: a comprehensive review.
Banadaki HD et al.
Molecular Aspects of Medicine, 2025
Decoding retinitis pigmentosa: molecular targets and therapy with focus on pre-mRNA splicing.
Banik P et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Loss of retinal stem cell reserve and lipofuscin accumulation accelerates cone-rod degeneration and replicates Stargardt disease in abca4b null zebrafish.
Pidishetty D et al.
Scientific Reports, 2025
The role of miRNAs in retinal physiology and in Inherited Retinal Disorders.
Brandi P et al.
Physiology (bethesda, Md.), 2025
Transcriptional downregulation of rhodopsin is associated with desensitization of rods to light-induced damage in a murine model of retinitis pigmentosa.
Takita S et al.
Human Molecular Genetics, 2025
Elucidating photoreceptor gene function with in-vivo CRISPR knock-out perturbation assay.
Sangermano R et al.
Research Square, 2025
Preventing light-induced toxicity in a new mouse model of sector retinitis pigmentosa caused by Rhodopsin M39R variant.
Guarascio R et al.
Cell Death Discovery, 2025
Translation regulation of ATF4 by the termination complex Hbs1-Pelo is required for visual system development and function.
Querry K et al.
Biorxiv : the Preprint Server for Biology, 2025
Downregulation of Transducin Delays Photoreceptor Degeneration in P23H Rhodopsin Retinitis Pigmentosa.
Mathew D et al.
Biorxiv : the Preprint Server for Biology, 2025
Preclinical Evaluation of Pitavastatin Nanoparticles for Preserving Cone Photoreceptors in Mouse Models of RP.
Shimokawa S et al.
Investigative Ophthalmology & Visual Science, 2025
Transient Knockdown of RORB with Cell-Penetrating siRNA Improves Visual Function in a Proteotoxic Mouse Model of Retinitis Pigmentosa.
Son C et al.
Biomedicines, 2025
Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes.
Badonyi M et al.
Nature Communications, 2025
RHO1-2 meganuclease gene editing targets human P23H rhodopsin-induced retinitis pigmentosa to rejuvenate rods and maintain cones.
Jalligampala A et al.
Biorxiv : the Preprint Server for Biology, 2025
Loss of PIKfyve in Rod Photoreceptors and RPE Cells Leads to Endolysosomal Dysfunction and Retinal Degeneration.
Rajala A et al.
Biorxiv : the Preprint Server for Biology, 2025
Single-Cell Transcriptomics in Inherited Retinal Dystrophies: Current Findings and Emerging Perspectives.
Nguyen L et al.
Genes, 2025
Small-Molecule Ligands of Rhodopsin and Their Therapeutic Potential in Retina Degeneration.
Pashandi Z et al.
International Journal of Molecular Sciences, 2025
Enhancing experience-dependent plasticity accelerates vision loss in a murine model of retinitis pigmentosa.
Attaway CA et al.
Biorxiv : the Preprint Server for Biology, 2025
Longitudinal Changes in Optoretinography Provide an Early and Sensitive Biomarker of Outer Retinal Disease.
Liu T et al.
American Journal of Ophthalmology, 2025
Minocycline treatment reduces the activation of mononuclear phagocytes and improves retinal function in a mouse model of Leber congenital amaurosis.
Bubis E et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2025
Cyclic nucleotide signaling as a drug target in retinitis pigmentosa.
Vainionpää K et al.
Febs Letters, 2025
The versatile roles of retinal pigment epithelium in the pathophysiology of retinitis pigmentosa.
Ghanawi H et al.
Progress in Retinal and Eye Research, 2025
Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
Demas N et al.
Bmc Medical Genomics, 2025
Novel founder variant in the S-antigen visual arrestin gene SAG is the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean Chinese.
Quinodoz M et al.
Journal of Medical Genetics, 2025
Glaucoma-associated Optineurin mutations increase transcellular degradation of mitochondria in a vertebrate optic nerve.
Jeong Y et al.
Elife, 2025
Genetic Therapies for Retinitis Pigmentosa: Current Breakthroughs and Future Directions.
Pniakowska Z et al.
Journal of Clinical Medicine, 2025
Gene therapy advances using canine and feline animal models of inherited retinal degeneration.
Petersen-Jones SM et al.
Eye (london, England), 2025
Aggregation of the Constitutively Active K296E Rhodopsin Mutant Contributes to Retinal Degeneration.
Vasudevan S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Protein kinase G inhibition preserves photoreceptor viability and function in a new mouse model for autosomal dominant retinitis pigmentosa.
Zhu Y et al.
Cell Death & Disease, 2025
In vivo efficacy of NRL knockdown with cell-penetrating siRNA in retinal degeneration.
Lee H et al.
Scientific Reports, 2025
Deciphering the role of CAPZA2 in neurodevelopmental disorders: insights from mouse models.
Guo M et al.
Communications Biology, 2025
Correcting a patient-specific Rhodopsin mutation with adenine base editor in a mouse model.
He X et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.
Daich Varela M et al.
Investigative Ophthalmology & Visual Science, 2025
In vivo adenine base editing ameliorates Rho-associated autosomal dominant retinitis pigmentosa.
Hu S et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025