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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.

A combination of in vitro and in vivo experiments demonstrate a cell-autonomous role of the KIT ligand/KIT signaling pathway in protecting retinal photoreceptor cells from environmentally or genetically caused degeneration.

Prominin 1 and Tweety Homology 1, two proteins that regulate membrane shape in neural and neuroepithelial cells, have shared evolutionary history and both cause cells to secrete extracellular vesicles.

Dominant mutations in Arl3, linked to inherited retinal dystrophy, disrupt the active Arl3-GTP ciliary gradient and cause a defect in rod photoreceptor nuclear migration that can be rescued by elevating ciliary Arl3 activity or reducing aberrant non-ciliary Arl3 activity.

A preclinical study using exogenous retinoids in a novel Usher syndrome 1F mouse model reveals a possible therapy to treat mutant PCDH15-mediated visual dysfunction.

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.

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.

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.

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.