Disease model
- Cored in the act: the use of models to understand core myopathies
Summary: The core myopathies are neuromuscular disorders with no cure. In this Review, we outline our current understanding of pathomechanisms, the advantages and limitations of available models, and discuss emerging modeling technologies.
- Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches
Summary: Using worm and fly models of an ultra-rare congenital disorder of glycosylation, we performed repurposing screens and identified the FDA-approved drug aripiprazole as a clinical candidate.
- From gene to treatment: supporting rare disease translational research through model systems
Summary: This Editorial discusses the importance of model systems with accurate face, construct, target and predictive validity for rare disease research.
- Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model
Summary: The characterization of a novel Drosophila model of NDUFS4 mitochondrial disease revealed a pronounced defect in feeding abilities and recapitulated additional human disease features.
- Human pluripotent stem cell models of cardiac disease: from mechanisms to therapies
Summary: This Review discusses how human pluripotent stem cells have revolutionised the study of cardiac disease, highlighting their impact in investigating pathogenesis and their use in drug discovery, as well as current challenges facing the field.
- FlyBase portals to human disease research using Drosophila models
Drosophila Collection: Drosophila melanogaster is well established as a model for studying human disease. Here, we highlight recent efforts to enhance the availability and accessibility of disease model data in FlyBase, the model organism database for Drosophila.