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.
The AAA-ATPase VCP sustains sarcoplasmic proteostasis, in part, by controlling autophagosome-lysosome fusion and the integrity of a dynamic tubular lysosomal network.
Mutations that reduce the functioning of rab7 may underlie the degeneration of sensory and motor nerves in Charcot-Marie-Tooth 2B disease, which suggests increasing endolysosomal function as a therapy.
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.
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.
In mouse models of Huntington's disease, the subthalamic nucleus, which suppresses movements, also exhibits impaired glutamate homeostasis, NMDA receptor-dependent mitochondrial oxidant stress, firing disruption, and 30% neuronal loss.
Proteins of the reticulon and REEP families, homologous to the products of human Hereditary Spastic Paraplegia disease genes, contribute to shaping and continuity of the axonal endoplasmic reticulum network in Drosophila.
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.
The most vulnerable motor units lose a fundamental firing property before the denervation of their muscle fibers in ALS mice, changing our view of the role of excitability in neurodegeneration.
