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.
Anna Plana-Bonamaisó, Santiago López-Begines ... Ana Méndez
The nucleotide sensing ability of IMPDH1 at the Bateman domain is regulated by light-dependent phosphorylation in the retina, to adjust GTP synthesis to illumination conditions.
High-throughput animal tracking and quantitative behaviour analysis detects diverse phenotypes in genetic disease models at a scale that makes drug screens possible.
The photoreceptor tetraspanin protein ROM1 contributes to the formation of light-sensitive 'disc' membranes, but it can be functionally replaced by an excess of its homologous binding partner PRPH2.
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.
Rapamycin treatment inhibits mTOR activity and preserves ATP levels in neurons derived from induced pluripotent stem cells from a maternally inherited Leigh syndrome patient.