Literature DB >> 15180248

Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2).

Fernanda B O Porto1, Isabelle Perrault, David Hicks, Jean-Michel Rozet, Noëlle Hanoteau, Sylvain Hanein, Josseline Kaplan, José A Sahel.   

Abstract

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Year:  2003        PMID： 15180248

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  8 in total

Review 1.  Leber congenital amaurosis caused by mutations in GUCY2D.

Authors:  Shannon E Boye
Journal:  Cold Spring Harb Perspect Med       Date:  2014-09-25       Impact factor: 6.915

Review 2.  Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.

Authors:  Artur V Cideciyan
Journal:  Prog Retin Eye Res       Date:  2010-04-24       Impact factor: 21.198

3.  Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

Authors:  Samuel G Jacobson; Artur V Cideciyan; Igor V Peshenko; Alexander Sumaroka; Elena V Olshevskaya; Lihui Cao; Sharon B Schwartz; Alejandro J Roman; Melani B Olivares; Sam Sadigh; King-Wai Yau; Elise Heon; Edwin M Stone; Alexander M Dizhoor
Journal:  Hum Mol Genet       Date:  2012-10-03       Impact factor: 6.150

4.  Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque.

Authors:  K Tyler McCullough; Sanford L Boye; Diego Fajardo; Kaitlyn Calabro; James J Peterson; Christianne E Strang; Dibyendu Chakraborty; Sebastian Gloskowski; Scott Haskett; Steven Samuelsson; Haiyan Jiang; C Douglas Witherspoon; Paul D Gamlin; Morgan L Maeder; Shannon E Boye
Journal:  Hum Gene Ther       Date:  2018-12-20       Impact factor: 5.695

5.  AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis.

Authors:  Sanford L Boye; Igor V Peshenko; Wei Chieh Huang; Seok Hong Min; Issam McDoom; Christine N Kay; Xuan Liu; Frank M Dyka; Thomas C Foster; Yumiko Umino; Sukanya Karan; Samuel G Jacobson; Wolfgang Baehr; Alexander Dizhoor; William W Hauswirth; Shannon E Boye
Journal:  Hum Gene Ther       Date:  2013-02       Impact factor: 5.695

6.  Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness.

Authors:  Melissa L Williams; Jason E Coleman; Shannon E Haire; Tomas S Aleman; Artur V Cideciyan; Izabel Sokal; Krzysztof Palczewski; Samuel G Jacobson; Susan L Semple-Rowland
Journal:  PLoS Med       Date:  2006-05-23       Impact factor: 11.069

Review 7.  Insights gained from gene therapy in animal models of retGC1 deficiency.

Authors:  Shannon E Boye
Journal:  Front Mol Neurosci       Date:  2014-05-14       Impact factor: 5.639

8.  Gene Therapy Fully Restores Vision to the All-Cone Nrl(-/-) Gucy2e(-/-) Mouse Model of Leber Congenital Amaurosis-1.

Authors:  Sanford L Boye; James J Peterson; Shreyasi Choudhury; Seok Hong Min; Qing Ruan; K Tyler McCullough; Zhonghong Zhang; Elena V Olshevskaya; Igor V Peshenko; William W Hauswirth; Xi-Qin Ding; Alexander M Dizhoor; Shannon E Boye
Journal:  Hum Gene Ther       Date:  2015-08-06       Impact factor: 4.793
  8 in total

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