Summary: Mitochondria have a plethora of functions beyond metabolism. This Review discusses the emerging and multifaceted roles of mitochondria in different model organisms and human disease biology.
Summary: We report selected mouse models of spine deformity following mutagenesis across 30% of autosomal genes, results of which are made publicly available to advance understanding of spine development and disease.
Transcriptomic analyses of gastrulation-stage mouse embryos with differential susceptibility to alcohol
Editor's choice: RNA-sequencing in gastrulation-stage mouse embryos provides information about gene expression patterns during normal mouse development and evidence that pre-existing genetic variability mediates risk to prenatal alcohol-induced birth defects.
Summary: We generated a panel of single, double and triple homozygous zebrafish mbnl mutants to model myotonic dystrophy. They exhibited decreased body size, impaired movement and widespread, disease-relevant alternative splicing changes.
Summary: Loss of p21-activated kinase Mbt (the PAK4 homolog) causes Parkinson-like phenotypes in Drosophila, including age-dependent movement deficits, shortened life expectancy and fragmented sleep. Generation of dopaminergic neurons from neural progenitors during development is impaired.
Development of a physiologically relevant and easily scalable LUHMES cell-based model of G2019S LRRK2-driven Parkinson's disease
Summary: Using Lund human mesencephalic cell-derived dopaminergic neurons, we developed a translational model of Parkinson's disease (PD) for the study of PD biology and for high-throughput screening for the identification of small-molecule PD therapeutics.
Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease
Summary: We developed mouse models for the blistering genetic skin disorder dominant dystrophic epidermolysis bullosa (DDEB) by introducing mutations into mouse Col7a1. These models should help to improve the understanding and treatment of DDEB.