Naomi Chadderton
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View article: De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa Open
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent de novo variants in the …
View article: Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy
Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy Open
Background: An estimated 10–15% of all genetic diseases are attributable to variants in noncanonical splice sites, auxiliary splice sites and deep-intronic variants. Most of these unstudied variants are classified as variants of uncertain …
View article: AAV-NDI1 Therapy Provides Significant Benefit to Murine and Cellular Models of Glaucoma
AAV-NDI1 Therapy Provides Significant Benefit to Murine and Cellular Models of Glaucoma Open
Glaucoma, a leading cause of blindness, is a multifactorial condition that leads to progressive loss of retinal ganglion cells (RGCs) and vision. Therapeutic interventions based on reducing ocular hypertension are not always successful. Em…
View article: MYC/BCL6 DOUBLE HIT LYMPHOMA NEGATIVE FOR <i>T</i>(3;8) BCL6::MYC FUSION IS ASSOCIATED WITH INFERIOR SURVIVAL, IN CONTRAST WITH <i>T</i>(3;8) POSITIVE PSEUDO‐DOUBLE HIT LYMPHOMA
MYC/BCL6 DOUBLE HIT LYMPHOMA NEGATIVE FOR <i>T</i>(3;8) BCL6::MYC FUSION IS ASSOCIATED WITH INFERIOR SURVIVAL, IN CONTRAST WITH <i>T</i>(3;8) POSITIVE PSEUDO‐DOUBLE HIT LYMPHOMA Open
Introduction: A small proportion of large B cell non-Hodgkin lymphoma (NHL) has MYC and BCL6 rearrangements, detectable by fluorescence in-situ hybridisation (FISH) break-apart probes. There are conflicting reports on the prognosis of this…
View article: RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models
RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models Open
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 an immensely comple…
View article: Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction
Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction Open
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 trials. Many ocular d…
View article: AAV‐mediated gene therapy improving mitochondrial function provides benefit in age‐related macular degeneration models
AAV‐mediated gene therapy improving mitochondrial function provides benefit in age‐related macular degeneration models Open
With an estimated 196 million people suffering from age-related macular degeneration (AMD) in 2020 and predicted to increase to 288 million by 2040,1 dry AMD, representing 70%–90% of AMD cases, represents an enormous clinical need with no …
View article: SARM1 Ablation Is Protective and Preserves Spatial Vision in an In Vivo Mouse Model of Retinal Ganglion Cell Degeneration
SARM1 Ablation Is Protective and Preserves Spatial Vision in an In Vivo Mouse Model of Retinal Ganglion Cell Degeneration Open
The challenge of developing gene therapies for genetic forms of blindness is heightened by the heterogeneity of these conditions. However, mechanistic commonalities indicate key pathways that may be targeted in a gene-independent approach.…
View article: Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction
Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction Open
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 (DOA), a progressiv…
View article: Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells
Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells Open
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 diseases. Restr…
View article: AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1−/− Retinas
AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1−/− Retinas Open
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 1 gene (TULP1)…
View article: Modelling and rescue of RP2 Retinitis Pigmentosa using iPSC Derived Retinal Organoids
Modelling and rescue of RP2 Retinitis Pigmentosa using iPSC Derived Retinal Organoids Open
Summary RP2 mutations cause a severe form of X-linked retinitis pigmentosa (XLRP). The mechanism of RP2 associated retinal degeneration in humans is unclear, and animal models of RP2 XLRP do not recapitulate this severe phenotype. Here, we…
View article: A Novel Retinal Ganglion Cell Promoter for Utility in AAV Vectors
A Novel Retinal Ganglion Cell Promoter for Utility in AAV Vectors Open
Significant advances in gene therapy have enabled exploration of therapies for inherited retinal disorders, many of which are in preclinical development or clinical evaluation. Gene therapy for retinal conditions has led the way in this gr…
View article: Direct effects of phenformin on metabolism/bioenergetics and viability of SH‑SY5Y neuroblastoma cells
Direct effects of phenformin on metabolism/bioenergetics and viability of SH‑SY5Y neuroblastoma cells Open
Phenformin, a member of the biguanides class of drugs, has been reported to be efficacious in cancer treatment. The focus of the current study was to establish whether there were direct effects of phenformin on the metabolism and bioenerge…
View article: Toward an elucidation of the molecular genetics of inherited retinal degenerations
Toward an elucidation of the molecular genetics of inherited retinal degenerations Open
While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the major cause of registered visual handicap in the developed world. Given their hereditary nature, some degree of intergenic heterogeneity was expec…