BEST1 autosomal dominant loss-of-function mutations surprisingly behave in a dominant-negative manner, whereas gain-of-function mutations exhibit a strong dominant effect that necessitates CRISPR/Cas9-mediated suppression of the endogenous mutant allele in gene therapy.
Using single nucleus RNA sequencing, a complete catalogue of cell types was determined for the mouse iris, and this information was used as a starting point to define the effects of pupil dilation on gene expression and on nuclear morphology.
Previous studies and emerging data on pseudohypoxic diseases suggest that the complex phenotypic spectrum of VHL disease is due to the extent of HIF pathway deregulation in susceptible cell types and not by other purported substrates or functions of pVHL.
Domino K Schlegel, Srinivasagan Ramkumar ... Stephan CF Neuhauss
The retinoid-binding protein RLBP1 in the retinal pigment epithelium is crucially involved in cone photoreceptor visual pigment recycling and mimics the human eye disease with retinal lipid deposits when mutated.
Biophysical binding and structural prediction studies reveal that Tetraspanin12 directly binds the ligand Norrin, in a manner that is negatively cooperative with Norrin-Fzd4 binding and competitive with Norrin-LRP5/6 binding.
Chiara M Eandi, Hugo Charles Messance ... Florian Sennlaub
IL-1β release from macrophages might be responsible for the unexplained cone segment loss in retinal degenerative diseases that are associated with subretinal inflammation, such as retinitis pigmentosa or geographic atrophy.
A quantitative live imaging approach unveils that earliest neurogenic progenitors in the vertebrate retina arise from asymmetric divisions and that this asymmetry involves Notch signalling through the endocytic pathway.
