Browsing Genetics (Scholarly Publications) by Author "Humphries, Peter"
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AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1−/− Retinas
Humphries, Peter; Farrar, Gwyneth (2020)With marketing approval of the first ocular gene therapy, and other gene therapies in clinical trial, treatments for inherited retinal degenerations (IRDs) have become a reality. Biallelic mutations in the tubby like protein ... -
AAV-PHP.eB transduces both the inner and outer retina with high efficacy in mice
Humphries, Peter; Farrar, Gwyneth (2022)Recombinant adeno-associated virus (AAV) vectors are one of the main gene delivery vehicles used in retinal gene therapy ap proaches; however, there is a need to further improve the effi cacy, tropism, and safety of these ... -
Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy
Humphries, Peter; Farrar, Gwyneth; Campbell, Matthew; Humphries, Marian (2020)Objectives: No therapeutic interventions are currently available for autosomal dominant retinitis pigmentosa (adRP). An RPE65 Asp477Gly transition associates with late-onset adRP, reduced RPE65 enzymatic activity being one ... -
An experimental platform for systemic drug delivery to the retina
Humphries, Marian; Campbell, Matthew; Gobbo, Oliviero; Farrar, Gwyneth; Humphries, Peter; Kerskens, Christian (2009)Degenerative retinopathies, including age-related macular degeneration, diabetic retinopathy, and hereditary retinal disorders?major causes of world blindness?are potentially treatable by using low-molecular weight ... -
Fibrotic Changes to Schlemm's Canal Endothelial Cells in Glaucoma
Campbell, Matthew; Farrar, Gwyneth; Humphries, Peter (2021)Previous studies have shown that glaucomatous Schlemm’s canal endothelial cells (gSCECs) are stiffer and associated with reduced porosity and increased extracellular matrix (ECM) material compared to SCECs from healthy ... -
Non-photoreceptor Expression of Tulp1 May Contribute to Extensive Retinal Degeneration in Tulp1-/- Mice
Humphries, Peter; Farrar, Gwyneth; Hokamp, Karsten (2020)Mutations in tubby like protein 1 gene (TULP1) are causative of early-onset recessive inherited retinal degenerations (IRDs); similarly, the Tulp1-/- mouse is also characterized by a rapid IRD. Tulp1 mRNA and protein ... -
Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells
Humphries, Peter; Farrar, Gwyneth (2020)Retinal ganglion cells (RGCs) are known to be involved in several ocular disorders, including glaucoma and Leber hereditary optic neuropathy (LHON), and hence represent target cells for gene therapies directed towards these ... -
Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction
Farrar, Gwyneth; Humphries, Peter (2023)AAV gene therapy for ocular disease has become a reality with the market authorisation of LuxturnaTM for RPE65-linked inherited retinal degenerations and many AAV gene therapies currently undergoing phase III clinical ... -
Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction
Humphries, Peter; Farrar, Gwyneth (2020)Optic Atrophy 1 (OPA1) is a mitochondrially targeted GTPase that plays a pivotal role in mitochondrial health, with mutations causing severe mitochondrial dysfunction and typically associated with Dominant Optic Atrophy ... -
Properties and therapeutic implications of an enigmatic d477g rpe65 variant associated with autosomal dominant retinitis pigmentosa
Humphries, Peter; Farrar, Gwyneth; Humphries, Marian; Campbell, Matthew (2020)RPE65 isomerase, expressed in the retinal pigmented epithelium (RPE), is an enzymatic component of the retinoid cycle, converting all-trans retinyl ester into 11-cis retinol, and it is essential for vision, because it ... -
RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models
Humphries, Marian; Farrar, Gwyneth; Humphries, Peter; Kenna, Paul (2023)Age-related macular degeneration (AMD) is the most common cause of blindness in the aged population. However, to date there is no effective treatment for the dry form of the disease, representing 85–90% of cases. AMD is ... -
SARM1 deficiency promotes rod and cone photoreceptor cell survival in a model of retinal degeneration
Monaghan, Michael; Doyle, Sarah; Humphries, Peter; Carty, Michael; Bowie, Andrew; Campbell, Matthew; Humphries, Marian (2020)Retinal degeneration is the leading cause of incurable blindness worldwide and is characterised by progressive loss of light-sensing photoreceptors in the neural retina. SARM1 is known for its role in axonal degeneration, ... -
siRNA targeting Schlemm's canal endothelial tight junctions enhances outflow facility and reduces IOP in a steroid-induced OHT rodent model
Farrar, Gwyneth; Campbell, Matthew; Humphries, Peter; Humphries, Marian (2021)Systemic or localized application of glucocorticoids (GCs) can lead to iatrogenic ocular hypertension, which is a leading cause of secondary open-angle glaucoma and visual impair ment. Previous work has shown that ... -
Systemic low-molecular weight drug delivery to pre-selected neuronal regions
Humphries, Marian; Kenna, Paul; Campbell, Matthew; Farrar, Gwyneth; Humphries, Peter; Gobbo, Oliviero (2011)We describe a procedure for controlled, periodic, reversible modulation of selected regions of the blood-brain barrier (BBB) or the inner-blood-retina barrier (iBRB) based on incorporation into an AAV-2/9 vector of a ...