Cargando…

Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy

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 feature associated with this dominant variant. Our objective: to assess wheth...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kenna, Paul F, Humphries, Marian M, Kiang, Anna-Sophia, Brabet, Philippe, Guillou, Laurent, Ozaki, Ema, Campbell, Matthew, Farrar, G Jane, Koenekoop, Robert, Humphries, Pete
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2020
Materias:	Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7228561/ https://www.ncbi.nlm.nih.gov/pubmed/32426524 http://dx.doi.org/10.1136/bmjophth-2020-000462

Ejemplares similares

Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa
por: Kiang, Anna-Sophia, et al.
Publicado: (2020)

Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65
por: Jauregui, Ruben, et al.
Publicado: (2020)

Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa
por: Millington-Ward, Sophia, et al.
Publicado: (2011)

RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models
por: Millington-Ward, Sophia, et al.
Publicado: (2023)

Toward an elucidation of the molecular genetics of inherited retinal degenerations
por: Farrar, G. Jane, et al.
Publicado: (2017)

Systemic low-molecular weight drug delivery to pre-selected neuronal regions
por: Campbell, Matthew, et al.
Publicado: (2011)

Short-Term Outcomes of the First in Vivo Gene Therapy for RPE65-Mediated Retinitis Pigmentosa
por: Kwak, Jay Jiyong, et al.
Publicado: (2022)

Fatty acid transport protein 1 regulates retinoid metabolism and photoreceptor development in mouse retina
por: Cubizolle, Aurélie, et al.
Publicado: (2017)

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)
por: Scholl, Hendrik P. N., et al.
Publicado: (2015)

The clinical features of retinal disease due to a dominant mutation in RPE65
por: Hull, Sarah, et al.
Publicado: (2016)

Altered retinal microRNA expression profile in a mouse model of retinitis pigmentosa
por: Loscher, Carol J, et al.
Publicado: (2007)

SARM1 deficiency promotes rod and cone photoreceptor cell survival in a model of retinal degeneration
por: Ozaki, Ema, et al.
Publicado: (2020)

The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation
por: Wu, Wenjing, et al.
Publicado: (2022)

Nrf2 overexpression rescues the RPE in mouse models of retinitis pigmentosa
por: Wu, David M., et al.
Publicado: (2021)

The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65
por: Lopes, Vanda S., et al.
Publicado: (2011)

Synthetic 9-cis-beta-carotene inhibits photoreceptor degeneration in cultures of eye cups from rpe65rd12 mouse model of retinoid cycle defect
por: Sher, Ifat, et al.
Publicado: (2018)

The First Homozygote Mutation c.499G>T (Asp167Tyr) in the RPE65 Gene Encoding Retinoid Isomerohydrolase Causing Retinal Dystrophy
por: Bjeloš, Mirjana, et al.
Publicado: (2022)

M-opsin protein degradation is inhibited by MG-132 in Rpe65(−/−) retinal explant culture
por: Sato, Kota, et al.
Publicado: (2012)

AAV-PHP.eB transduces both the inner and outer retina with high efficacy in mice
por: Palfi, Arpad, et al.
Publicado: (2022)

RPE65 c.353G>A, p.(Arg118Lys): A Novel Point Mutation Associated with Retinitis Pigmentosa and Macular Atrophy
por: Bjeloš, Mirjana, et al.
Publicado: (2022)

Retinal Structure in RPE65-Associated Retinal Dystrophy
por: Kumaran, Neruban, et al.
Publicado: (2020)

Computational studies for the structure and function of mRPE65
por: Guo, Hao, et al.
Publicado: (2007)

Late presentation of RPE65 retinopathy in three siblings
por: Magliyah, Moustafa, et al.
Publicado: (2020)

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee
por: Han, Jinu, et al.
Publicado: (2023)

A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration
por: Carrigan, Matthew, et al.
Publicado: (2016)

AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1−/− Retinas
por: Palfi, Arpad, et al.
Publicado: (2020)

siRNA targeting Schlemm’s canal endothelial tight junctions enhances outflow facility and reduces IOP in a steroid-induced OHT rodent model
por: Cassidy, Paul S., et al.
Publicado: (2020)

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population
por: Gao, Feng-Juan, et al.
Publicado: (2021)

Examining the Role of Cone-expressed RPE65 in Mouse Cone Function
por: Kolesnikov, Alexander V., et al.
Publicado: (2018)

A Comprehensive Study of the Retinal Phenotype of Rpe65-Deficient Dogs
por: Annear, Matthew J, et al.
Publicado: (2021)

Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy
por: Sinim Kahraman, Neslihan, et al.
Publicado: (2022)

Next-Generation Sequencing Applications for Inherited Retinal Diseases
por: Dockery, Adrian, et al.
Publicado: (2021)

AAV‐mediated gene therapy improving mitochondrial function provides benefit in age‐related macular degeneration models
por: Millington‐Ward, Sophia, et al.
Publicado: (2022)

Lentiviral mediated RPE65 gene transfer in healthy hiPSCs-derived retinal pigment epithelial cells markedly increased RPE65 mRNA, but modestly protein level
por: Udry, Florian, et al.
Publicado: (2020)

highroad Is a Carboxypetidase Induced by Retinoids to Clear Mutant Rhodopsin-1 in Drosophila Retinitis Pigmentosa Models
por: Huang, Huai-Wei, et al.
Publicado: (2018)

BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells
por: Hey, Caroline Amalie Brunbjerg, et al.
Publicado: (2021)

Differential neuroglycan C expression during retinal degeneration in Rpe65(−/−) mice
por: Escher, Pascal, et al.
Publicado: (2008)

Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients
por: Xu, Fei, et al.
Publicado: (2012)

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy
por: Kabir, Firoz, et al.
Publicado: (2013)

The dual roles of RPE65 S-palmitoylation in membrane association and visual cycle function
por: Uppal, Sheetal, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_nv0rdsbq0qjc36obgvmt7q0oc3