scholarly journals Stable Rhodopsin/Arrestin Complex Leads to Retinal Degeneration in a Transgenic Mouse Model of Autosomal Dominant Retinitis Pigmentosa

2006 ◽  
Vol 26 (46) ◽  
pp. 11929-11937 ◽  
Author(s):  
J. Chen ◽  
G. Shi ◽  
F. A. Concepcion ◽  
G. Xie ◽  
D. Oprian ◽  
...  
Keyword(s):  
Mouse Model ◽  
Retinitis Pigmentosa ◽  
Retinal Degeneration ◽  
Transgenic Mouse ◽  
Autosomal Dominant ◽  
Transgenic Mouse Model ◽  
Autosomal Dominant Retinitis Pigmentosa

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

Nature ◽  
1991 ◽  
Vol 354 (6353) ◽  
pp. 480-483 ◽  
Author(s):  
Kazuto Kajiwara ◽  
Lauri B. Hahn ◽  
Shizuo Mukai ◽  
Gabriel H. Travis ◽  
Eliot L. Berson ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Retinal Degeneration ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa

Gene of the month:PRPF31

2017 ◽  
Vol 70 (9) ◽  
pp. 729-732 ◽  
Author(s):  
Anna M Rose ◽  
Rong Luo ◽  
Utsav K Radia ◽  
Shomi S Bhattacharya
Keyword(s):  
Protein Structure ◽  
Retinitis Pigmentosa ◽  
Visual Impairment ◽  
Retinal Degeneration ◽  
Autosomal Dominant ◽  
Biological Function ◽  
Mrna Splicing ◽  
Splicing Factor ◽  
Eukaryotic Cells ◽  
Autosomal Dominant Retinitis Pigmentosa

Pre-mRNA splicing is an essential process in eukaryotic cells where the transcribed intronic sequences are removed, prior to translation into protein. PRPF31 is a ubiquitously expressed splicing factor, which aids in the assembly of the macromolecular spliceosome. Mutations inPRPF31cause autosomal dominant retinitis pigmentosa (adRP), a form of retinal degeneration that causes progressive visual impairment. Interestingly, mutations inPRPF31are non-penetrant, with some mutation carriers being phenotypically unaffected. In this review, the gene organisation, protein structure and biological function of PRPF31 are discussed, and the mechanisms of non-penetrance inPRPF31-associated adRP are discussed.

scholarly journals Limited ATF4 Expression in Degenerating Retinas with Ongoing ER Stress Promotes Photoreceptor Survival in a Mouse Model of Autosomal Dominant Retinitis Pigmentosa

PLoS ONE ◽  
2016 ◽  
Vol 11 (5) ◽  
pp. e0154779 ◽  
Author(s):  
Yogesh Bhootada ◽  
Pravallika Kotla ◽  
Sergei Zolotukhin ◽  
Oleg Gorbatyuk ◽  
Zsuzsanna Bebok ◽  
...  
Keyword(s):  
Mouse Model ◽  
Retinitis Pigmentosa ◽  
Er Stress ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa
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