scholarly journals Acute and Protracted Cell Death in Light-Induced Retinal Degeneration in the Canine Model of Rhodopsin Autosomal Dominant Retinitis Pigmentosa

2017 ◽  
Vol 58 (1) ◽  
pp. 270 ◽  
Author(s):  
Raghavi Sudharsan ◽  
Kristina M. Simone ◽  
Nathan P. Anderson ◽  
Gustavo D. Aguirre ◽  
William A. Beltran
Keyword(s):  
Cell Death ◽  
Retinitis Pigmentosa ◽  
Retinal Degeneration ◽  
Autosomal Dominant ◽  
Canine 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 The Function of Drosophila USP14 in Endoplasmic Reticulum Stress and Retinal Degeneration in a Model for Autosomal Dominant Retinitis Pigmentosa

Biology ◽  
2020 ◽  
Vol 9 (10) ◽  
pp. 332
Author(s):  
Jung-Eun Park ◽  
Thị Xuân Thùy Trần ◽  
Nayoung Park ◽  
Jeonghun Yeom ◽  
Kyunggon Kim ◽  
...  
Keyword(s):  
Endoplasmic Reticulum ◽  
Retinitis Pigmentosa ◽  
Er Stress ◽  
Retinal Degeneration ◽  
Cellular Response ◽  
Autosomal Dominant ◽  
Metabolic Diseases ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Alpha 1 Antitrypsin ◽  
The Unfolded Protein Response

Endoplasmic reticulum (ER) stress and its adaptive cellular response, the unfolded protein response (UPR), are involved in various diseases including neurodegenerative diseases, metabolic diseases, and even cancers. Here, we analyzed the novel function of ubiquitin-specific peptidase 14 (USP14) in ER stress. The overexpression of Drosophila USP14 protected the cells from ER stress without affecting the proteasomal activity. Null Hong Kong (NHK) and alpha-1-antitrypsin Z (ATZ) are ER-associated degradation substrates. The degradation of NHK, but not of ATZ, was delayed by USP14. USP14 restored the levels of rhodopsin-1 protein in a Drosophila model for autosomal dominant retinitis pigmentosa and suppressed the retinal degeneration in this model. In addition, we observed that proteasome complex is dynamically reorganized in response to ER stress in human 293T cells. These findings suggest that USP14 may be a therapeutic strategy in diseases associated with ER stress.

scholarly journals Erythropoietin Slows Photoreceptor Cell Death in a Mouse Model of Autosomal Dominant Retinitis Pigmentosa

PLoS ONE ◽  
2016 ◽  
Vol 11 (6) ◽  
pp. e0157411 ◽  
Author(s):  
Tonia S. Rex ◽  
Lorraine Kasmala ◽  
Wesley S. Bond ◽  
Ana M. de Lucas Cerrillo ◽  
Kristi Wynn ◽  
...  
Keyword(s):  
Cell Death ◽  
Mouse Model ◽  
Retinitis Pigmentosa ◽  
Photoreceptor Cell ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa
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