Supernormal ERG Oscillatory Potentials in Transgenic Rabbit with Rhodopsin P347L Mutation and Retinal Degeneration

2009 ◽  
Vol 50 (9) ◽  
pp. 4402 ◽  
Author(s):  
Takao Sakai ◽  
Mineo Kondo ◽  
Shinji Ueno ◽  
Toshiyuki Koyasu ◽  
Keiichi Komeima ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Oscillatory Potentials ◽  
Transgenic Rabbit

Generation of a Transgenic Rabbit Model of Retinal Degeneration

2009 ◽  
Vol 50 (3) ◽  
pp. 1371 ◽  
Author(s):  
Mineo Kondo ◽  
Takao Sakai ◽  
Keiichi Komeima ◽  
Yukihide Kurimoto ◽  
Shinji Ueno ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Rabbit Model ◽  
Transgenic Rabbit

Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Without Concomitant Inhibition of Protein N-Glycosylation

2020 ◽  
Author(s):  
Sriganesh Ramachandra Rao ◽  
Lara A. Skelton ◽  
Fuguo Wu ◽  
Agnieszka Onysk ◽  
Grzegorz Spolnik ◽  
...  
Keyword(s):  
Retinal Degeneration

scholarly journals C9orf72-associated arginine-rich dipeptide repeats induce RNA-dependent nuclear accumulation of Staufen in neurons

2021 ◽  
Author(s):  
Eun Seon Kim ◽  
Chang Geon Chung ◽  
Jeong Hyang Park ◽  
Byung Su Ko ◽  
Sung Soon Park ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Rna Binding ◽  
Rna Binding Proteins ◽  
Nuclear Accumulation ◽  
Heterozygous Mutation ◽  
Pathological Feature ◽  
Dependent Manner ◽  
Cellular Processes ◽  
Drosophila Model ◽  
Post Transcriptional Regulation

Abstract RNA-binding proteins (RBPs) play essential roles in diverse cellular processes through post-transcriptional regulation of RNAs. The subcellular localization of RBPs is thus under tight control, the breakdown of which is associated with aberrant cytoplasmic accumulation of nuclear RBPs such as TDP-43 and FUS, well-known pathological markers for amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). Here, we report in Drosophila model for ALS/FTD that nuclear accumulation of a cytoplasmic RBP, Staufen, may be a new pathological feature. We found that in Drosophila C4da neurons expressing PR36, one of the arginine-rich dipeptide repeat proteins (DPRs), Staufen accumulated in the nucleus in Importin- and RNA-dependent manner. Notably, expressing Staufen with exogenous NLS—but not with mutated endogenous NLS—potentiated PR-induced dendritic defect, suggesting that nuclear-accumulated Staufen can enhance PR toxicity. PR36 expression increased Fibrillarin staining in the nucleolus, which was enhanced by heterozygous mutation of stau (stau+/−), a gene that codes Staufen. Furthermore, knockdown of fib, which codes Fibrillarin, exacerbated retinal degeneration mediated by PR toxicity, suggesting that increased amount of Fibrillarin by stau+/− is protective. Stau+/− also reduced the amount of PR-induced nuclear-accumulated Staufen and mitigated retinal degeneration and rescued viability of flies expressing PR36. Taken together, our data show that nuclear accumulation of Staufen in neurons may be an important pathological feature contributing to the pathogenesis of ALS/FTD.

scholarly journals rdgE: A Novel Retinal Degeneration Mutation in Drosophila melanogaster

Genetics ◽  
1996 ◽  
Vol 144 (1) ◽  
pp. 127-138
Author(s):  
Troy Zars ◽  
David R Hyde
Keyword(s):  
Electron Microscopy ◽  
Retinal Degeneration ◽  
Light Response ◽  
Neuronal Membrane ◽  
Constant Darkness ◽  
Multivesicular Bodies ◽  
Photoreceptor Degeneration ◽  
Transmission Electron ◽  
Phototransduction Cascade ◽  
Membrane Biosynthesis

Abstract We report isolating the Drosophila retinal degeneration E (rdgE) mutation. The hypomorphic rdgE  1 allele causes rapid photoreceptor degeneration in light and a slower rate of degeneration when the flies are raised in constant darkness. The rdgE  1 flies exhibited an electrophysiological light response that decreased with age, coinciding with the degeneration. This suggests that degeneration caused the loss of the light response. We determined that the ninaE (rhodopsin) mutation, but not norpA [phospholipase C (PLC)], slowed the rdgE-dependent degeneration. This was consistent with the light-enhanced degeneration, but revealed that the degeneration is independent of the PLC-mediated phototransduction cascade. Transmission electron microscopy revealed that rdgE  1 photoreceptors exhibited a number of vesicular transport defects including unpacking/vesiculation of rhabdomeres, endocytosis of novel vesicles by photoreceptors, a buildup of very large multivesicular bodies, and an increased amount of rough endoplasmic reticulum. We determined that the rdgE null phenotype is a late embryonic lethality. Therefore, rdgE  + is required in cells outside of the retina, quite possibly in a large number of neurons. Thus, rdgE may define a mutational class that exhibits both light-enhanced retinal degeneration and a recessive null lethality by perturbing neuronal membrane biosynthesis and/or recycling.

scholarly journals Transgenic rabbit models for cardiac disease research

2021 ◽  
Author(s):  
Tibor Hornyik ◽  
Marina Rieder ◽  
Alessandro Castiglione ◽  
Peter Major ◽  
Istvan Baczko ◽  
...  
Keyword(s):  
Cardiac Disease ◽  
Transgenic Rabbit ◽  
Disease Research
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