Issues

Summary: Pulmonary organoid model systems for COVID-19 research have played a significant role in understanding SARS-CoV-2 pathogenesis and may change the way we screen for potential antivirals in the future.

Summary: Here, we review the current knowledge about Müllerian duct anomalies in the context of new high-throughput technologies and model systems and their implications in the prevention of these disorders.

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: Using analyses of podocyte-specific Tmem30a knockout mice and TMEM30A expression in patients with podocytopathy, we demonstrate a critical role of Tmem30a in maintaining podocyte survival and glomerular filtration barrier integrity.

Summary: Ronin is a polyglutamine protein encoded in a region of human chromosome 16q22.1 linked to spinocerebellar ataxia type 4. Overexpression of Ronin in mouse cerebellar Purkinje cells leads to their loss and ataxia.

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.

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.

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.

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.