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.
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DMM and COVID-19
We are aware that the COVID-19 pandemic is having an unprecedented impact on researchers worldwide. The Editors of all The Company of Biologists’ journals have been considering ways in which we can alleviate concerns that members of our community may have around publishing activities during this time. Read about the actions we are taking at this time.
Please don’t hesitate to contact the Editorial Office if you have any questions or concerns.
Interviews – Sneh, Mami and Myumi
Continuing our ongoing support to early-career researchers, Sneh Harsh, Mami Uemura and Myumi Higashi share the story behind their latest DMM research, what this means for the field and where their science journey is heading to next.
Membrane trafficking in health and disease
Martin Lowe and his team summarise the major intracellular membrane trafficking pathways and associated molecular machineries, and describe how defects in these give rise to disease in humans, in an At a Glance article and poster.
Editor's choice - Familial hypercholesterolemia class II LDL receptor response to statin treatment
Nolan L Boyd and colleagues used an iPSC-based model of familiar hypercholeserolemia to investigate how mutant LDL receptors respond to statins.