Summary: Brehme and Voisine perform a comprehensive literature survey that highlights the power of model systems to unveil key chaperone modifiers of proteotoxicity with potential therapeutic implications.
A chemical with proven clinical safety rescues Down-syndrome-related phenotypes in through DYRK1A inhibition
Editors' choice: In vivo validation of a potent DYRK1A inhibitor, with proven clinical safety, using Down-syndrome- and Alzheimer's-disease-like models.
Conditional deletion of AP-2β in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma
Summary: Tissue-specific deletion of transcription factor AP-2β in the neural-crest-derived periocular mesenchyme generates a novel model of anterior segment dysgenesis and early onset glaucoma in mice.
Summary: We identify the YBR/EiJ mouse strain as a new model of high intraocular pressure and glaucoma, and also identify genetic loci that contribute to this glaucoma.
Loss of vhl in the zebrafish pronephros recapitulates early stages of human clear cell renal cell carcinoma
Summary: Zebrafish with an inactivating mutation in the vhl gene can be used as a model of early stage clear cell renal cell carcinoma, with applications for genetic studies and drug screens.
Summary: Combining a disruption in nuclear structure with a lupus-prone genetic background induces autoimmunity, suggesting that nuclear alterations trigger the disease in genetically susceptible individuals.
MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia
Summary: A miRNA screening conducted in olfactory stem cells from patients links the neuron-specific splicing factor NOVA1 to neurodegeneration in familial dysautonomia.