Literature DB >> 33057571

Moving Towards PDE6A Gene Supplementation Therapy.

Kinga M Bujakowska1, Jason Comander1.   

Abstract

Entities:  

Year:  2020        PMID： 33057571      PMCID： PMC8168273          DOI： 10.1001/jamaophthalmol.2020.4216

Source DB:  PubMed          Journal:  JAMA Ophthalmol        ISSN： 2168-6165            Impact factor:   7.389


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  9 in total

1.  Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.

Authors:  Liron Dvir; Gassoub Srour; Rasmi Abu-Ras; Benjamin Miller; Stavit A Shalev; Tamar Ben-Yosef
Journal:  Am J Hum Genet       Date:  2010-07-22       Impact factor: 11.025

2.  Gene Therapy Successfully Delays Degeneration in a Mouse Model of PDE6A-Linked Retinitis Pigmentosa (RP43).

Authors:  Christian Schön; Vithiyanjali Sothilingam; Regine Mühlfriedel; Marina Garcia Garrido; Susanne C Beck; Naoyuki Tanimoto; Bernd Wissinger; François Paquet-Durand; Martin Biel; Stylianos Michalakis; Mathias W Seeliger
Journal:  Hum Gene Ther       Date:  2017-12       Impact factor: 5.695

3.  Gene Supplementation Rescues Rod Function and Preserves Photoreceptor and Retinal Morphology in Dogs, Leading the Way Toward Treating Human PDE6A-Retinitis Pigmentosa.

Authors:  Laurence M Occelli; Christian Schön; Mathias W Seeliger; Martin Biel; Stylianos Michalakis; Simon M Petersen-Jones
Journal:  Hum Gene Ther       Date:  2017-12       Impact factor: 5.695

4.  Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.

Authors:  M E McLaughlin; M A Sandberg; E L Berson; T P Dryja
Journal:  Nat Genet       Date:  1993-06       Impact factor: 38.330

5.  Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa.

Authors:  Katherine J Wert; Richard J Davis; Javier Sancho-Pelluz; Patsy M Nishina; Stephen H Tsang
Journal:  Hum Mol Genet       Date:  2012-10-29       Impact factor: 6.150

6.  Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

Authors:  Laura Kuehlewein; Ditta Zobor; Sten Olof Andreasson; Carmen Ayuso; Sandro Banfi; Beatrice Bocquet; Antje S Bernd; Saskia Biskup; Camiel J F Boon; Susan M Downes; M Dominik Fischer; Frank G Holz; Ulrich Kellner; Bart P Leroy; Isabelle Meunier; Fadi Nasser; Thomas Rosenberg; Günther Rudolph; Katarina Stingl; Alberta A H J Thiadens; Barbara Wilhelm; Bernd Wissinger; Eberhart Zrenner; Susanne Kohl; Nicole Weisschuh
Journal:  JAMA Ophthalmol       Date:  2020-12-01       Impact factor: 7.389

7.  Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.

Authors:  S H Huang; S J Pittler; X Huang; L Oliveira; E L Berson; T P Dryja
Journal:  Nat Genet       Date:  1995-12       Impact factor: 38.330

Review 8.  The cGMP Pathway and Inherited Photoreceptor Degeneration: Targets, Compounds, and Biomarkers.

Authors:  Arianna Tolone; Soumaya Belhadj; Andreas Rentsch; Frank Schwede; François Paquet-Durand
Journal:  Genes (Basel)       Date:  2019-06-14       Impact factor: 4.096

9.  Gene Therapy in a Large Animal Model of PDE6A-Retinitis Pigmentosa.

Authors:  Freya M Mowat; Laurence M Occelli; Joshua T Bartoe; Kristen J Gervais; Ashlee R Bruewer; Janice Querubin; Astra Dinculescu; Sanford L Boye; William W Hauswirth; Simon M Petersen-Jones
Journal:  Front Neurosci       Date:  2017-06-20       Impact factor: 5.152
  9 in total

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