SPECIAL ARTICLE
- Model systems of protein-misfolding diseases reveal chaperone modifiers of proteotoxicity
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.
RESEARCH ARTICLES
- 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.
- YBR/EiJ mice: a new model of glaucoma caused by genes on chromosomes 4 and 17
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.
- Alterations in nuclear structure promote lupus autoimmunity in a mouse model
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.