Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa

Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa

Several ubiquitously expressed genes encoding pre-mRNA splicing factors have been associated with autosomal dominant retinitis pigmentosa (adRP), including PRPF31, PRPF3 and PRPF8. Molecular mechanisms by which defects in pre-mRNA splicing factors cause photoreceptor degeneration are not clear. To i...

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Bibliographic Details
Main Authors: Daniel Mordes, Liya Yuan, Lili Xu, Mariko Kawada, Robert S. Molday, Jane Y. Wu
Format: Article
Language:English
Published: Elsevier 2007-05-01
Series:Neurobiology of Disease
Subjects:
Pre-mRNA splicing
Autosomal dominant retinitis pigmentosa (adRP)
PRPF31
Fascin (FSCN2)
RDS/Peripherin
Photoreceptor
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996106001975

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http://www.sciencedirect.com/science/article/pii/S0969996106001975

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