Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa

@inproceedings{Yin2011MutantPC,
  title={Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa},
  author={Jun Yin and Jan Brocher and Utz Fischer and Christoph Winkler},
  booktitle={Molecular Neurodegeneration},
  year={2011}
}
Retinitis pigmentosa (RP) is an inherited eye disease characterized by the progressive degeneration of rod photoreceptor cells. Mutations in pre-mRNA splicing factors including PRPF31 have been identified as cause for RP, raising the question how mutations in general factors lead to tissue specific defects. We have recently shown that the zebrafish serves as an excellent model allowing the recapitulation of key events of RP. Here we use this model to investigate two pathogenic mutations in… CONTINUE READING

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References

Publications referenced by this paper.
Showing 1-10 of 56 references

Pre-mRNA splicing and retinitis pigmentosa.

Molecular vision • 2006
View 4 Excerpts
Highly Influenced

Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.

The Journal of neuroscience : the official journal of the Society for Neuroscience • 2005
View 4 Excerpts
Highly Influenced

Editor ed.^eds.) City: National Institutes of Health;1997-2009

Rasband WS ImageJ, U.S.U.S. Book ImageJ
2011
View 2 Excerpts

El-Hodiri HM: Regulation of retinal homeobox gene transcription by cooperative activity among cis-elements

RI Martinez-de Luna, HE Moose, LE Kelly, S Nekkalapudi
Gene • 2010
View 1 Excerpt

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