Skin cells from a patient with retinitis pigmentosa have been used to generate induced pluripotent stem cells, which could potentially form the basis of new treatments for this disease.
Jillian N Pearring, William J Spencer ... Vadim Y Arshavsky
Rather than relying on intrinsic intracellular targeting information, the key phototransduction enzyme guanylate cyclase 1 is delivered to the photosensory cilium with the visual pigment rhodopsin.
Yi Bessie Liu, Ambika Tewari ... Kathleen J Sweadner
A mouse with a defined mutation in an extracellular matrix protein that is expressed in selected neurons sheds light on circuit abnormalities producing transient hyperkinetic movements.
Genome-wide analysis of DNA methylation and accessible chromatin shows that retinal rods and cones have distinct epigenomic features that reflect differences in their development and function.
Rapamycin treatment inhibits mTOR activity and preserves ATP levels in neurons derived from induced pluripotent stem cells from a maternally inherited Leigh syndrome patient.
Toshihide Kurihara, Peter D Westenskow ... Martin Friedlander
Mouse models in which hypoxia can be genetically triggered in retinal pigmented epithelial cells show that hypoxia-induced metabolic stress alone can lead to photoreceptor atrophy/dysfunction.
A multidisciplinary platform featured by patient-derived RPEs is established to study the disease-causing mechanisms of BEST1 mutations, and demonstrates gene-supplemented rescue of the mutation-caused deficiency in Ca2+-dependent Cl- current in human RPE.
Regulating rod gene expression with a small molecule ligand for the orphan nuclear receptor Nr2e3 rescues photoreceptors from degeneration in a mouse model of retinitis pigmentosa.
Lipid efflux by the retinal pigment epithelium is crucial for proper retinal integrity and function, and its impairment may contribute to diseases like age-related macular degeneration.
