Results 31 to 40 of about 7,638 (169)

Stable Intronic Sequences and Exon Skipping Events in the Human RPE65 Gene: Analysis of Expression in Retinal Pigment Epithelium Cells and Cell Culture Models

Frontiers in Genetics, 2019
Currently, there is much interest in intronic sequence-containing long non-coding RNAs and the role of intronic transcription in regulation of cellular metabolism and fate.
Olga Postnikova, Eugenia Poliakov, Nady Golestaneh, Igor B. Rogozin, T. Michael Redmond   +4 more
doaj   +1 more source

Rpe65 Is the Retinoid Isomerase in Bovine Retinal Pigment Epithelium [PDF]

, 2005
SummaryThe first event in light perception is absorption of a photon by an opsin pigment, which induces isomerization of its 11-cis-retinaldehyde chromophore. Restoration of light sensitivity to the bleached opsin requires chemical regeneration of 11-cis-
Travis, Gabriel H., Li, Songhua, Moghrabi, Walid N., Jin, Minghao, Sun, Hui   +4 more
core   +1 more source

Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.

PLoS Medicine, 2007
BackgroundRPE65 is an essential molecule in the retinoid-visual cycle, and RPE65 gene mutations cause the congenital human blindness known as Leber congenital amaurosis (LCA).
Geoffrey K Aguirre, András M Komáromy, Artur V Cideciyan, David H Brainard, Tomas S Aleman, Alejandro J Roman, Brian B Avants, James C Gee, Marc Korczykowski, William W Hauswirth, Gregory M Acland, Gustavo D Aguirre, Samuel G Jacobson   +12 more
doaj   +1 more source

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

Cells, 2022
Pathogenic variants in RPE65 lead to retinal diseases, causing a vision impairment. In this work, we investigated the pathomechanism behind the frequent RPE65 variant, c.11+5G>A.
Irene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, Eef C. W. Alaerds, Merel A. Post, Edwin M. van Oosten, Luke O’Gorman, Michael Kwint, Louet Koolen, Anita D. M. Hoogendoorn, Hester Y. Kroes, Christian Gilissen, Frans P. M. Cremers, Rob W. J. Collin, Susanne Roosing, Alejandro Garanto   +15 more
doaj   +1 more source

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients [PDF]

, 2012
Background: Objective techniques to assess the amelioration of vision in patients with impaired visual function are needed to standardize efficacy assessment in gene therapy trials for ocular diseases.
Melillo Paolo, Jean Bennett, Francesca Simonelli, Simonelli Francesca, BENNETT J, Testa, Francesco, Francesco Testa, Paolo Melillo, Leandro Pecchia, Rossi, Settimio, Pecchia Leandro, Testa Francesco, Bennett, Jean, M.D., Pecchia, Leandro, PECCHIA L, Melillo, Paolo, Settimio Rossi, Simonelli, Francesca, Bennett Jean, Rossi Settimio   +19 more
core   +1 more source

The First Homozygote Mutation c.499G>T (Asp167Tyr) in the RPE65 Gene Encoding Retinoid Isomerohydrolase Causing Retinal Dystrophy

Current Issues in Molecular Biology, 2022
RPE65, an abundant membrane-associated protein present in the retinal pigment epithelium (RPE), is a vital retinoid isomerase necessary for regenerating 11-cis-retinaldehyde from all-trans retinol in the visual cycle.
Mirjana Bjeloš, Ana Ćurić, Benedict Rak, Mladen Bušić, Biljana Kuzmanović Elabjer   +4 more
doaj   +1 more source

Generation and Characterization of Induced Pluripotent Stem Cells and Retinal Organoids From a Leber’s Congenital Amaurosis Patient With Novel RPE65 Mutations

Frontiers in Molecular Neuroscience, 2019
RPE65-associated Leber congenital amaurosis (LCA) is one of highly heterogeneous, early onset, severe retinal dystrophies with at least 130 gene mutation sites identified. Their pathogenicity has not been directly clarified due to lack of diseased cells.
Guilan Li, Guanjie Gao, Panfeng Wang, Xiaojing Song, Ping Xu, Bingbing Xie, Tiancheng Zhou, Guangjin Pan, Fuhua Peng, Qingjiong Zhang, Jian Ge, Xiufeng Zhong   +11 more
doaj   +1 more source

Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy

Türk Oftalmoloji Dergisi, 2022
Objectives:Hereditary retinal dystrophies are a rare group of diseases which are heterogeneous in genotype and phenotype and result in total blindness.
Neslihan Sinim Kahraman, Ayşe Öner, Yusuf Özkul, Munis Dündar   +3 more
doaj   +1 more source

An Aggregation‐Induced Polymerization Poly(Disulfide)‐Drug Nanoplatform for Autoimmune Uveitis Therapy via Inhibiting the cGAS‐STING Pathway

Advanced Science, EarlyView.
A cationic poly(disulfide)‐drug nanoplatform (LA/DexP) was developed to treat experimental autoimmune uveitis (EAU). With potent blood‐retinal barrier penetrability, LA/DexP releases DSP in response to high ROS and scavenges cfDNA to inhibit the cGAS‐STING signaling pathway.
Yuelan Wu, Wenbo Geng, Qinjin Dai, Wanyun Zhang, Yuxian Lai, Pei Zhang, Chunjiang Zhou, Yinuo Wang, Qingfeng Cao, Xiang Luo, Yujie Lai, Changwei Huang, Peizeng Yang   +12 more
wiley   +1 more source

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio‐based Whole‐Exome Sequencing

Advanced Science, EarlyView.
A rare de novo IFT122‐A773E variant is identified in idiopathic pediatric uveitis and shown to exacerbate retinal inflammation and barrier dysfunction. Mechanistically, the variant enhances IFT43 interaction, elevates calcium signaling, and activates the MEK/ERK/FRA1 axis, revealing a previously unrecognized cilia‐associated pathway that may increase ...
Qian Zhou, Jiaxing Huang, Yilin Wang, Xingran Li, Xianyang Liu, Lingyu Dai, Hongshun Li, Qingfeng Wang, Jiangyi Liu, Guannan Su, Wanyun Zhang, Yang Deng, Qingfeng Cao, Yujie Lai, Xiang Luo, Changwei Huang, Ling Chen, Shengping Hou, Peizeng Yang   +18 more
wiley   +1 more source