Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.
Sign Up to like & getrecommendations! Published in 2019 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2019.3914
Abstract: Importance Next-generation sequencing can detect variants of uncertain significance (VUSs), for some of which gene therapy would not be advantageous. Therefore, the pathogenicity of compound heterozygous or homozygous variants should be confirmed before bilateral vitrectomy… read more here.
Keywords: vitro mutagenesis; gene therapy; rpe65; pathogenicity ... See more keywords
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2018.09.024
Abstract: PURPOSE To delineate the natural history of visual parameters over time in individuals with biallelic RPE65 mutation-associated inherited retinal dystrophy (IRD); describe the range of causative mutations; determine potential genotype/phenotype relationships; and describe the variety… read more here.
Keywords: natural history; rpe65 mutation; inherited retinal; rpe65 ... See more keywords
Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A).
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101665
Abstract: Retinitis Pigmentosa (RP) is an inherited disorder of retinal degeneration with progressive loss of rod and cone photoreceptors. RPE65 is a gene encoding the trans-cis isomerase which is essential for the classical visual cycle. While… read more here.
Keywords: derivation familial; retinitis pigmentosa; ipsc lines; rpe65 ... See more keywords
Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65.
Sign Up to like & getrecommendations! Published in 2022 at "Stem cell research"
DOI: 10.1016/j.scr.2022.102689
Abstract: Leber congenital amaurosis (LCA) can be caused by mutations in more than 20 different genes. One of these, RPE65, encodes a protein essential for the visual cycle that is expressed in retinal pigment epithelium cells.… read more here.
Keywords: variant rpe65; patient; line; homozygous variant ... See more keywords
Lentiviral mediated RPE65 gene transfer in healthy hiPSCs-derived retinal pigment epithelial cells markedly increased RPE65 mRNA, but modestly protein level
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-65657-y
Abstract: The retinal pigment epithelium (RPE) is a monolayer of cobblestone-like epithelial cells that accomplishes critical functions for the retina. Several protocols have been published to differentiate pluripotent stem cells into RPE cells suitable for disease… read more here.
Keywords: epithelial cells; rpe65 mrna; protein level; retinal pigment ... See more keywords
Improving the Transduction of Bone Marrow–Derived Cells with an Integrase-Defective Lentiviral Vector
Sign Up to like & getrecommendations! Published in 2018 at "Human Gene Therapy Methods"
DOI: 10.1089/hgtb.2017.082
Abstract: In lentiviral vector (LV) applications where transient transgene expression is sufficient, integrase-defective lentiviral vectors (IDLVs) are beneficial for reducing the potential for off-target effects associated with insertional mutagenesis. It was previously demonstrated that human RPE65… read more here.
Keywords: idlv3 rpe65; expression; rpe65; transduction ... See more keywords
An inducible amphipathic α-helix mediates subcellular targeting and membrane binding of RPE65
Sign Up to like & getrecommendations! Published in 2022 at "Life Science Alliance"
DOI: 10.26508/lsa.202201546
Abstract: Amino acid residues 107–125 of RPE65, in concert with a palmitoyl group at C112, form a membrane-sensing amphipathic helix that targets RPE65 to smooth endoplasmic reticulum to acquire its substrate. RPE65 retinol isomerase is an… read more here.
Keywords: amphipathic helix; rpe65; membrane binding; membrane ... See more keywords