Literature DB >> 10852366

Recent advances in the molecular basis of inherited photoreceptor degeneration.

G Clarke1, E Héon, R R McInnes.   

Abstract

To date, 118 loci have been associated with photoreceptor degenerative disease. In this review, we will discuss recent advances in the identification of genes that cause progressive photoreceptor cell death when mutated. We will focus on 12 genes isolated within the last two years that have been shown to be photoreceptor-specific, or that have provided insight into photoreceptor biology and the mechanisms of photoreceptor cell death. To aid in understanding the biologic basis for these diseases, we also briefly review photoreceptor biology. Finally, we report on recent advances towards the treatment of these disorders.

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Year:  2000        PMID: 10852366     DOI: 10.1034/j.1399-0004.2000.570501.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  11 in total

1.  Light stimulates a transducin-independent increase of cytoplasmic Ca2+ and suppression of current in cones from the zebrafish mutant nof.

Authors:  Susan E Brockerhoff; Fred Rieke; Hugh R Matthews; Michael R Taylor; Breandan Kennedy; Irina Ankoudinova; Gregory A Niemi; Chandra L Tucker; Ming Xiao; Marianne C Cilluffo; Gordon L Fain; James B Hurley
Journal:  J Neurosci       Date:  2003-01-15       Impact factor: 6.167

Review 2.  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

3.  Top2b is involved in the formation of outer segment and synapse during late-stage photoreceptor differentiation by controlling key genes of photoreceptor transcriptional regulatory network.

Authors:  Ying Li; Hailing Hao; Mavis R Swerdel; Hyeon-Yeol Cho; Ki-Bum Lee; Ronald P Hart; Yi Lisa Lyu; Li Cai
Journal:  J Neurosci Res       Date:  2017-03-30       Impact factor: 4.164

Review 4.  Molecular aspects of retinal degenerative diseases.

Authors:  S Lev
Journal:  Cell Mol Neurobiol       Date:  2001-12       Impact factor: 5.046

5.  The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.

Authors:  Ann H Milam; Linda Rose; Artur V Cideciyan; Mark R Barakat; Wai-Xing Tang; Nisha Gupta; Tomas S Aleman; Alan F Wright; Edwin M Stone; Val C Sheffield; Samuel G Jacobson
Journal:  Proc Natl Acad Sci U S A       Date:  2002-01-02       Impact factor: 11.205

6.  Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting.

Authors:  J Paul Chapple; Celene Grayson; Alison J Hardcastle; Tracey A Bailey; Karl Matter; Peter Adamson; Catriona H Graham; Keith R Willison; Michael E Cheetham
Journal:  Biochem J       Date:  2003-06-01       Impact factor: 3.857

Review 7.  Nonviral ocular gene therapy: assessment and future directions.

Authors:  Shannon M Conley; Xue Cai; Muna I Naash
Journal:  Curr Opin Mol Ther       Date:  2008-10

8.  Novel adeno-associated virus serotypes efficiently transduce murine photoreceptors.

Authors:  Mariacarmela Allocca; Claudio Mussolino; Maria Garcia-Hoyos; Daniela Sanges; Carolina Iodice; Marco Petrillo; Luk H Vandenberghe; James M Wilson; Valeria Marigo; Enrico M Surace; Alberto Auricchio
Journal:  J Virol       Date:  2007-08-15       Impact factor: 5.103

9.  Combined rod and cone transduction by adeno-associated virus 2/8.

Authors:  Anna Manfredi; Elena Marrocco; Agostina Puppo; Giulia Cesi; Andrea Sommella; Michele Della Corte; Settimio Rossi; Massimo Giunti; Cheryl M Craft; Maria Laura Bacci; Francesca Simonelli; Enrico M Surace; Alberto Auricchio
Journal:  Hum Gene Ther       Date:  2013-10-30       Impact factor: 5.695

10.  Machine learning approaches to supporting the identification of photoreceptor-enriched genes based on expression data.

Authors:  Haiying Wang; Huiru Zheng; David Simpson; Francisco Azuaje
Journal:  BMC Bioinformatics       Date:  2006-03-08       Impact factor: 3.169

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