Literature DB >> 17515894

Restoration of cone vision in a mouse model of achromatopsia.

John J Alexander1, Yumiko Umino, Drew Everhart, Bo Chang, Seok H Min, Qiuhong Li, Adrian M Timmers, Norman L Hawes, Ji-Jing Pang, Robert B Barlow, William W Hauswirth.   

Abstract

Loss of cone function in the central retina is a pivotal event in the development of severe vision impairment for many prevalent blinding diseases. Complete achromatopsia is a genetic defect resulting in cone vision loss in 1 in 30,000 individuals. Using adeno-associated virus (AAV) gene therapy, we show that it is possible to target cones and rescue both the cone-mediated electroretinogram response and visual acuity in the Gnat2 ( cpfl3 ) mouse model of achromatopsia.

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Year:  2007        PMID： 17515894      PMCID： PMC3985124          DOI： 10.1038/nm1596

Source DB:  PubMed          Journal:  Nat Med        ISSN： 1078-8956            Impact factor:   53.440


  13 in total

1.  Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.

Authors:  S Johnson; M Michaelides; I A Aligianis; J R Ainsworth; J D Mollon; E R Maher; A T Moore; D M Hunt
Journal:  J Med Genet       Date:  2004-02       Impact factor: 6.318

2.  Mouse cone arrestin expression pattern: light induced translocation in cone photoreceptors.

Authors:  Xuemei Zhu; Aimin Li; Bruce Brown; Ellen R Weiss; Shoji Osawa; Cheryl M Craft
Journal:  Mol Vis       Date:  2002-12-11       Impact factor: 2.367

3.  Molecular genetics of human blue cone monochromacy.

Authors:  J Nathans; C M Davenport; I H Maumenee; R A Lewis; J F Hejtmancik; M Litt; E Lovrien; R Weleber; B Bachynski; F Zwas
Journal:  Science       Date:  1989-08-25       Impact factor: 47.728

4.  CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

Authors:  Susanne Kohl; Balazs Varsanyi; Gesine Abadin Antunes; Britta Baumann; Carel B Hoyng; Herbert Jägle; Thomas Rosenberg; Ulrich Kellner; Birgit Lorenz; Roberto Salati; Bernhard Jurklies; Agnes Farkas; Sten Andreasson; Richard G Weleber; Samuel G Jacobson; Günther Rudolph; Claudio Castellan; Helene Dollfus; Eric Legius; Mario Anastasi; Pierre Bitoun; Dorit Lev; Paul A Sieving; Francis L Munier; Eberhart Zrenner; Lindsay T Sharpe; Frans P M Cremers; Bernd Wissinger
Journal:  Eur J Hum Genet       Date:  2005-03       Impact factor: 4.246

5.  Hypoglycemia leads to age-related loss of vision.

Authors:  Y Umino; D Everhart; E Solessio; K Cusato; J C Pan; T H Nguyen; E T Brown; R Hafler; B A Frio; B E Knox; G A Engbretson; M Haeri; L Cui; A S Glenn; M J Charron; R B Barlow
Journal:  Proc Natl Acad Sci U S A       Date:  2006-12-11       Impact factor: 11.205

6.  Role of a locus control region in the mutually exclusive expression of human red and green cone pigment genes.

Authors:  Philip M Smallwood; Yanshu Wang; Jeremy Nathans
Journal:  Proc Natl Acad Sci U S A       Date:  2002-01-02       Impact factor: 11.205

Review 7.  Molecular genetics of color-vision deficiencies.

Authors:  Samir S Deeb
Journal:  Vis Neurosci       Date:  2004 May-Jun       Impact factor: 3.241

8.  A locus control region adjacent to the human red and green visual pigment genes.

Authors:  Y Wang; J P Macke; S L Merbs; D J Zack; B Klaunberg; J Bennett; J Gearhart; J Nathans
Journal:  Neuron       Date:  1992-09       Impact factor: 17.173

9.  Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.

Authors:  Susanne Kohl; Britta Baumann; Thomas Rosenberg; Ulrich Kellner; Birgit Lorenz; Maria Vadalà; Samuel G Jacobson; Bernd Wissinger
Journal:  Am J Hum Genet       Date:  2002-06-20       Impact factor: 11.025

10.  Comparative analysis of transcriptional profiles between two apoptotic pathways of light-induced retinal degeneration.

Authors:  A Roca; K-J Shin; X Liu; M I Simon; J Chen
Journal:  Neuroscience       Date:  2004       Impact factor: 3.590
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  99 in total

Review 1.  Gene therapy for ocular diseases.

Authors:  Melissa M Liu; Jingsheng Tuo; Chi-Chao Chan
Journal:  Br J Ophthalmol       Date:  2010-08-23       Impact factor: 4.638

2.  Self-complementary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency.

Authors:  J Pang; S E Boye; B Lei; S L Boye; D Everhart; R Ryals; Y Umino; B Rohrer; J Alexander; J Li; X Dai; Q Li; B Chang; R Barlow; W W Hauswirth
Journal:  Gene Ther       Date:  2010-03-18       Impact factor: 5.250

3.  Achromatopsia as a potential candidate for gene therapy.

Authors:  Ji-Jing Pang; John Alexander; Bo Lei; Wentao Deng; Keqing Zhang; Qiuhong Li; Bo Chang; William W Hauswirth
Journal:  Adv Exp Med Biol       Date:  2010       Impact factor: 2.622

4.  Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.

Authors:  William A Beltran; Artur V Cideciyan; Alfred S Lewin; Simone Iwabe; Hemant Khanna; Alexander Sumaroka; Vince A Chiodo; Diego S Fajardo; Alejandro J Román; Wen-Tao Deng; Malgorzata Swider; Tomas S Alemán; Sanford L Boye; Sem Genini; Anand Swaroop; William W Hauswirth; Samuel G Jacobson; Gustavo D Aguirre
Journal:  Proc Natl Acad Sci U S A       Date:  2012-01-23       Impact factor: 11.205

Review 5.  AAV-mediated gene therapy in mouse models of recessive retinal degeneration.

Authors:  J-J Pang; L Lei; X Dai; W Shi; X Liu; A Dinculescu; J H McDowell
Journal:  Curr Mol Med       Date:  2012-03       Impact factor: 2.222

Review 6.  Gene therapy and genome surgery in the retina.

Authors:  James E DiCarlo; Vinit B Mahajan; Stephen H Tsang
Journal:  J Clin Invest       Date:  2018-06-01       Impact factor: 14.808

7.  Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.

Authors:  Xi-Qin Ding; Cynthia S Harry; Yumiko Umino; Alexander V Matveev; Steven J Fliesler; Robert B Barlow
Journal:  Hum Mol Genet       Date:  2009-09-17       Impact factor: 6.150

8.  The human rhodopsin kinase promoter in an AAV5 vector confers rod- and cone-specific expression in the primate retina.

Authors:  Shannon E Boye; John J Alexander; Sanford L Boye; Clark D Witherspoon; Kristen J Sandefer; Thomas J Conlon; Kirsten Erger; Jingfen Sun; Renee Ryals; Vince A Chiodo; Mark E Clark; Christopher A Girkin; William W Hauswirth; Paul D Gamlin
Journal:  Hum Gene Ther       Date:  2012-09-20       Impact factor: 5.695

9.  Mutation discovered in a feline model of human congenital retinal blinding disease.

Authors:  Marilyn Menotti-Raymond; Koren Holland Deckman; Victor David; Jaimie Myrkalo; Stephen J O'Brien; Kristina Narfström
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-01-06       Impact factor: 4.799

10.  Rod and rod-driven function in achromatopsia and blue cone monochromatism.

Authors:  Anne Moskowitz; Ronald M Hansen; James D Akula; Susan E Eklund; Anne B Fulton
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-09-29       Impact factor: 4.799
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