... of variability in ciliopathy patients. Cilia Transition zone Meckel syndrome Nephronophthisis Joubert syndrome Zebrafish Penetrance Pronephric cysts Retinal degeneration Scoliosis CRISPR Crispant National Institutes of Health http://dx.doi.org/10.13039/100000002 U54DK126087...

...-recessive disorder caused by mutations in at least 22 different genes. A constant feature is early-onset retinal degeneration leading to blindness. Among the most common forms is BBS type 10 (BBS10), which is caused by mutations in a gene encoding a chaperonin-like protein. To aid in developing treatments...

... was mislocalized in the inner segments. Heterozygotes exhibited slowly progressing retinal degeneration. Mislocalized P23HhRhoRFP was contained in greatly expanded endoplasmic reticulum (ER) membranes. Quantification of mRNA for markers of ER stress and the unfolded protein response revealed little or no increases...

..., the crc protein-trap line shows Crc-GFP induction in a Drosophila model for retinitis pigmentosa. This crc allele renders flies more vulnerable to amino acid deprivation and age-dependent retinal degeneration. These mutants also show defects in wing veins and oocyte maturation. Together, our data reveal...

... and RNA-seq analysis indicated that the defect of Cyp4v3 led to the abnormal lipid metabolism, inflammation activation and oxidative stress of retina. Notably, inflammation activation and oxidative stress could also promote the progression of BCD in light-induced retinal degeneration. In conclusion, our...

... photoreceptor death in the retina and are often associated with genetic mutations, including those in the prominin-1 ( Prom1 ) gene. Prom1 -knockout (KO) mice recapitulate key features of these diseases including light-dependent retinal degeneration and constriction of retinal blood vessels. The mechanisms...

... retinal degeneration, microglial activation, deposition of autofluorescent material and transcriptomic changes compared to wild-type animals. Finally, we treated the light-exposed Cln3 Δex7/8 animals with the immunomodulatory compound minocycline, and thereby rescued the retinal phenotype and diminished...

.... Summary: A new mouse model has been established that exhibits characteristics of human age-related macular degeneration; the model will facilitate further studies of AMD disease mechanisms. RPE AMD Retinal degeneration PGC-1α High-fat diet Mitochondria Autophagy BrightFocus...

.... Loss of this subunit causes progressive, selective degeneration of retinal ganglion cells. IKAP/ELP1 Familial dysautonomia Mitochondria Retinal degeneration Retinal ganglion cells National Institutes of Health 10.13039/100000002 R01NS086796 R43 EY025458 Dysautonomia...