Gene Therapy for Retinal Degeneration

Biallelic mutations in the RPE65 gene are associated with inherited retinal degenerations/dystrophies (IRD) and disrupt the visual cycle, leading to loss of vision. A new adenoviral vector-based gene therapy surgically delivered to retinal cells provides normal human RPE65 protein that can restore t...

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Published in:	Cell Vol. 173; no. 1; p. 5
Main Author:	Apte, Rajendra S.
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 22-03-2018
Subjects:	Adenoviridae - genetics cis-trans-Isomerases - genetics cis-trans-Isomerases - metabolism Genetic Therapy Genetic Vectors - economics Genetic Vectors - genetics Genetic Vectors - therapeutic use Humans Leber Congenital Amaurosis - epidemiology Leber Congenital Amaurosis - genetics Leber Congenital Amaurosis - therapy Retinal Degeneration - epidemiology Retinal Degeneration - genetics Retinal Degeneration - therapy
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Abstract	Biallelic mutations in the RPE65 gene are associated with inherited retinal degenerations/dystrophies (IRD) and disrupt the visual cycle, leading to loss of vision. A new adenoviral vector-based gene therapy surgically delivered to retinal cells provides normal human RPE65 protein that can restore the visual cycle and some vision. To view this Bench to Bedside, open or download the PDF. Biallelic mutations in the RPE65 gene are associated with inherited retinal degenerations/dystrophies (IRD) and disrupt the visual cycle, leading to loss of vision. A new adenoviral vector-based gene therapy surgically delivered to retinal cells provides normal human RPE65 protein that can restore the visual cycle and some vision. To view this Bench to Bedside, open or download the PDF.
AbstractList	Biallelic mutations in the RPE65 gene are associated with inherited retinal degenerations/dystrophies (IRD) and disrupt the visual cycle, leading to loss of vision. A new adenoviral vector-based gene therapy surgically delivered to retinal cells provides normal human RPE65 protein that can restore the visual cycle and some vision. To view this Bench to Bedside, open or download the PDF. Biallelic mutations in the RPE65 gene are associated with inherited retinal degenerations/dystrophies (IRD) and disrupt the visual cycle, leading to loss of vision. A new adenoviral vector-based gene therapy surgically delivered to retinal cells provides normal human RPE65 protein that can restore the visual cycle and some vision. To view this Bench to Bedside, open or download the PDF. Biallelic mutations in the RPE65 gene are associated with inherited retinal degenerations/dystrophies (IRD) and disrupt the visual cycle, leading to loss of vision. A new adenoviral vector-based gene therapy surgically delivered to retinal cells provides normal human RPE65 protein that can restore the visual cycle and some vision. To view this Bench to Bedside, open or download the PDF.
Author	Apte, Rajendra S.
Author_xml	– sequence: 1 givenname: Rajendra S. surname: Apte fullname: Apte, Rajendra S. email: apte@wustl.edu organization: Washington University School of Medicine, 660 South Euclid Avenue, Box 8096, St. Louis, MO 63110, USA
BackLink	https://www.ncbi.nlm.nih.gov/pubmed/29570997$$D View this record in MEDLINE/PubMed
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References_xml	– volume: 122 start-page: 449 year: 2005 ident: 10.1016/j.cell.2018.03.021_bib5 article-title: Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium publication-title: Cell doi: 10.1016/j.cell.2005.06.042 contributor: fullname: Jin – volume: 17 start-page: 139 year: 1997 ident: 10.1016/j.cell.2018.03.021_bib6 article-title: Mutations in RPE65 cause Leber’s congenital amaurosis publication-title: Nat. Genet. doi: 10.1038/ng1097-139 contributor: fullname: Marlhens – volume: 390 start-page: 849 year: 2017 ident: 10.1016/j.cell.2018.03.021_bib7 article-title: Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial publication-title: Lancet doi: 10.1016/S0140-6736(17)31868-8 contributor: fullname: Russell – volume: 25 start-page: 67 year: 2004 ident: 10.1016/j.cell.2018.03.021_bib1 article-title: Leber congenital amaurosis: a genetic paradigm publication-title: Ophthalmic Genet. doi: 10.1080/13816810490514261 contributor: fullname: Allikmets – volume: 17 start-page: 194 year: 1997 ident: 10.1016/j.cell.2018.03.021_bib3 article-title: Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy publication-title: Nat. Genet. doi: 10.1038/ng1097-194 contributor: fullname: Gu – volume: 17 start-page: 42 year: 2001 ident: 10.1016/j.cell.2018.03.021_bib8 article-title: Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies publication-title: Hum. Mutat. doi: 10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K contributor: fullname: Sohocki – year: 2017 ident: 10.1016/j.cell.2018.03.021_bib2 article-title: Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives publication-title: Prog. Retin. Eye Res. contributor: fullname: Dias – ident: 10.1016/j.cell.2018.03.021_bib9 – volume: 268 start-page: 15751 year: 1993 ident: 10.1016/j.cell.2018.03.021_bib4 article-title: Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro publication-title: J. Biol. Chem. doi: 10.1016/S0021-9258(18)82319-5 contributor: fullname: Hamel
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SubjectTerms	Adenoviridae - genetics cis-trans-Isomerases - genetics cis-trans-Isomerases - metabolism Genetic Therapy Genetic Vectors - economics Genetic Vectors - genetics Genetic Vectors - therapeutic use Humans Leber Congenital Amaurosis - epidemiology Leber Congenital Amaurosis - genetics Leber Congenital Amaurosis - therapy Retinal Degeneration - epidemiology Retinal Degeneration - genetics Retinal Degeneration - therapy
Title	Gene Therapy for Retinal Degeneration
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