Pre-mRNA splicing and retinitis pigmentosa

Daniel Mordes; Xiaoyan Luo; Amar Kar; David Kuo; Lili Xu; Kazuo Fushimi; Guowu Yu; Paul Sternberg; Jane Y. Wu

Pre-mRNA splicing and retinitis pigmentosa

Daniel Mordes, Xiaoyan Luo, Amar Kar, David Kuo, Lili Xu, Kazuo Fushimi, Guowu Yu, Paul Sternberg, Jane Y. Wu^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

99 Scopus citations

Abstract

Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinal diseases and a common cause of blindness. Among the 12 autosomal dominant RP (adRP) genes identified, four encode ubiquitously expressed proteins involved in pre-mRNA splicing, demonstrating the important role that pre-mRNA splicing plays in the pathogenesis of retinal degeneration. This review focuses on recent progress in identifying adRP mutations in genes encoding pre-mRNA splicing factors and the potential underlying molecular mechanisms.

Original language	English (US)
Pages (from-to)	1259-1271
Number of pages	13
Journal	Molecular vision
Volume	12
State	Published - Oct 26 2006

ASJC Scopus subject areas

Ophthalmology

Cite this

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abstract = "Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinal diseases and a common cause of blindness. Among the 12 autosomal dominant RP (adRP) genes identified, four encode ubiquitously expressed proteins involved in pre-mRNA splicing, demonstrating the important role that pre-mRNA splicing plays in the pathogenesis of retinal degeneration. This review focuses on recent progress in identifying adRP mutations in genes encoding pre-mRNA splicing factors and the potential underlying molecular mechanisms.",

author = "Daniel Mordes and Xiaoyan Luo and Amar Kar and David Kuo and Lili Xu and Kazuo Fushimi and Guowu Yu and Paul Sternberg and Wu, {Jane Y.}",

year = "2006",

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journal = "Molecular vision",

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AU - Mordes, Daniel

AU - Luo, Xiaoyan

AU - Kar, Amar

AU - Kuo, David

AU - Xu, Lili

AU - Fushimi, Kazuo

AU - Yu, Guowu

AU - Sternberg, Paul

AU - Wu, Jane Y.

PY - 2006/10/26

Y1 - 2006/10/26

N2 - Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinal diseases and a common cause of blindness. Among the 12 autosomal dominant RP (adRP) genes identified, four encode ubiquitously expressed proteins involved in pre-mRNA splicing, demonstrating the important role that pre-mRNA splicing plays in the pathogenesis of retinal degeneration. This review focuses on recent progress in identifying adRP mutations in genes encoding pre-mRNA splicing factors and the potential underlying molecular mechanisms.

AB - Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinal diseases and a common cause of blindness. Among the 12 autosomal dominant RP (adRP) genes identified, four encode ubiquitously expressed proteins involved in pre-mRNA splicing, demonstrating the important role that pre-mRNA splicing plays in the pathogenesis of retinal degeneration. This review focuses on recent progress in identifying adRP mutations in genes encoding pre-mRNA splicing factors and the potential underlying molecular mechanisms.

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M3 - Review article

C2 - 17110909

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JO - Molecular vision

JF - Molecular vision

ER -

Pre-mRNA splicing and retinitis pigmentosa

Abstract

ASJC Scopus subject areas

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