Literature DB >> 11867514

On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention.

G Jane Farrar1, Paul F Kenna, Peter Humphries.   

Abstract

Retinitis pigmentosa (RP), the group of hereditary conditions involving death of retinal photoreceptors, represents the most prevalent cause of visual handicap among working populations in developed countries. Here we provide an overview of the molecular pathologies associated with such disorders, from which it becomes clearly apparent that RP is one of the most genetically heterogeneous of hereditary conditions for which molecular pathologies have so far been elucidated. While heterogeneity of such magnitude would appear to represent a major impediment to the development of therapeutics, mutation-independent approaches to therapy are being developed to effectively by-pass such diversity in genetic aetiology. The implications of such technologies in terms of therapeutic intervention in RP, and indeed other genetically heterogeneous conditions, will be addressed.

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Year:  2002        PMID: 11867514      PMCID: PMC125887          DOI: 10.1093/emboj/21.5.857

Source DB:  PubMed          Journal:  EMBO J        ISSN: 0261-4189            Impact factor:   11.598


  66 in total

1.  Ribozyme-based therapeutic approaches for autosomal dominant retinitis pigmentosa.

Authors:  B O'Neill; S Millington-Ward; M O'Reilly; G Tuohy; A S Kiang; P F Kenna; P Humphries; G J Farrar
Journal:  Invest Ophthalmol Vis Sci       Date:  2000-09       Impact factor: 4.799

2.  Mutations in MKKS cause Bardet-Biedl syndrome.

Authors:  A M Slavotinek; E M Stone; K Mykytyn; J R Heckenlively; J S Green; E Heon; M A Musarella; P S Parfrey; V C Sheffield; L G Biesecker
Journal:  Nat Genet       Date:  2000-09       Impact factor: 38.330

Review 3.  Triple helix formation and the antigene strategy for sequence-specific control of gene expression.

Authors:  D Praseuth; A L Guieysse; C Hélène
Journal:  Biochim Biophys Acta       Date:  1999-12-10

4.  Adenovirus-mediated gene transfer of ciliary neurotrophic factor can prevent photoreceptor degeneration in the retinal degeneration (rd) mouse.

Authors:  M Cayouette; C Gravel
Journal:  Hum Gene Ther       Date:  1997-03-01       Impact factor: 5.695

5.  A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

Authors:  E Verpy; M Leibovici; I Zwaenepoel; X Z Liu; A Gal; N Salem; A Mansour; S Blanchard; I Kobayashi; B J Keats; R Slim; C Petit
Journal:  Nat Genet       Date:  2000-09       Impact factor: 38.330

6.  The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.

Authors:  K P Mitton; P K Swain; S Chen; S Xu; D J Zack; A Swaroop
Journal:  J Biol Chem       Date:  2000-09-22       Impact factor: 5.157

7.  Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy.

Authors:  R R Ali; G M Sarra; C Stephens; M D Alwis; J W Bainbridge; P M Munro; S Fauser; M B Reichel; C Kinnon; D M Hunt; S S Bhattacharya; A J Thrasher
Journal:  Nat Genet       Date:  2000-07       Impact factor: 38.330

8.  Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.

Authors:  A Gal; Y Li; D A Thompson; J Weir; U Orth; S G Jacobson; E Apfelstedt-Sylla; D Vollrath
Journal:  Nat Genet       Date:  2000-11       Impact factor: 38.330

9.  Nuclear trafficking of photoreceptor protein crx: the targeting sequence and pathologic implications.

Authors:  Y Fei; T E Hughes
Journal:  Invest Ophthalmol Vis Sci       Date:  2000-09       Impact factor: 4.799

10.  Retinopathy induced in mice by targeted disruption of the rhodopsin gene.

Authors:  M M Humphries; D Rancourt; G J Farrar; P Kenna; M Hazel; R A Bush; P A Sieving; D M Sheils; N McNally; P Creighton; A Erven; A Boros; K Gulya; M R Capecchi; P Humphries
Journal:  Nat Genet       Date:  1997-02       Impact factor: 38.330

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  53 in total

1.  Inosine 5'-monophosphate dehydrogenase binds nucleic acids in vitro and in vivo.

Authors:  Jeremy E McLean; Nobuko Hamaguchi; Peter Belenky; Sarah E Mortimer; Martin Stanton; Lizbeth Hedstrom
Journal:  Biochem J       Date:  2004-04-15       Impact factor: 3.857

Review 2.  Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa.

Authors:  Xue Cai; Shannon M Conley; Muna I Naash
Journal:  Adv Exp Med Biol       Date:  2010       Impact factor: 2.622

Review 3.  Pre-mRNA splicing and retinitis pigmentosa.

Authors:  Daniel Mordes; Xiaoyan Luo; Amar Kar; David Kuo; Lili Xu; Kazuo Fushimi; Guowu Yu; Paul Sternberg; Jane Y Wu
Journal:  Mol Vis       Date:  2006-10-26       Impact factor: 2.367

4.  Light/dark translocation of alphatransducin in mouse photoreceptor cells expressing G90D mutant opsin.

Authors:  Zack A Nash; Muna I Naash
Journal:  Adv Exp Med Biol       Date:  2006       Impact factor: 2.622

5.  Can ultrasound solve the transport barrier of the neural retina?

Authors:  Liesbeth Peeters; Ine Lentacker; Roosmarijn E Vandenbroucke; Bart Lucas; Joseph Demeester; Niek N Sanders; Stefaan C De Smedt
Journal:  Pharm Res       Date:  2008-07-23       Impact factor: 4.200

6.  Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy.

Authors:  Naomi Chadderton; Sophia Millington-Ward; Arpad Palfi; Mary O'Reilly; Gearóid Tuohy; Marian M Humphries; Tiansen Li; Peter Humphries; Paul F Kenna; G Jane Farrar
Journal:  Mol Ther       Date:  2009-01-27       Impact factor: 11.454

7.  Mutation-independent rescue of a novel mouse model of Retinitis Pigmentosa.

Authors:  D L Greenwald; S M Cashman; R Kumar-Singh
Journal:  Gene Ther       Date:  2012-07-19       Impact factor: 5.250

Review 8.  Photoreceptor cell death mechanisms in inherited retinal degeneration.

Authors:  Javier Sancho-Pelluz; Blanca Arango-Gonzalez; Stefan Kustermann; Francisco Javier Romero; Theo van Veen; Eberhart Zrenner; Per Ekström; François Paquet-Durand
Journal:  Mol Neurobiol       Date:  2008-11-04       Impact factor: 5.590

9.  Non-invasive stem cell therapy in a rat model for retinal degeneration and vascular pathology.

Authors:  Shaomei Wang; Bin Lu; Sergei Girman; Jie Duan; Trevor McFarland; Qing-shuo Zhang; Markus Grompe; Grazyna Adamus; Binoy Appukuttan; Raymond Lund
Journal:  PLoS One       Date:  2010-02-15       Impact factor: 3.240

10.  Inactivation of VCP/ter94 suppresses retinal pathology caused by misfolded rhodopsin in Drosophila.

Authors:  Ana Griciuc; Liviu Aron; Michel J Roux; Rüdiger Klein; Angela Giangrande; Marius Ueffing
Journal:  PLoS Genet       Date:  2010-08-26       Impact factor: 5.917

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