How #photoreceptors die in #retinitispigmentosa using #scRNAseq, proteomics & quantitative imaging with slow #RPGR & fast #PDE6B mouse models- understanding early and late disease mechanisms! Great talk by Fay Newton, postdoc extraordinaire funded by Fight for Sight UK in Megaw/Mill labs at MRC HGU, University of Edinburgh. #ukcilia2023 /7
#ukcilia2023 #pde6b #rpgr #scrnaseq #RetinitisPigmentosa #photoreceptors
#RPGR mutations cause inherited retinal dystrophies (#IRDs); the leading cause of #VisualLoss in children & working adults. We show RPGR regulates the disassembly of these #actin filaments where discs form and patient mutations prevent this, leading to reduced actin disassembly. /4
#actin #visualloss #irds #rpgr