Issues

Summary: This Review provides an account of the current scientific knowledge regarding the effects of cadmium exposure during early life on development and health outcomes in major organ systems.

Summary: A new model system enables genomic and proteomic analyses to identify genes, proteins and pathways integral to the bioactivity of MTDIA, a potent anti-cancer transition-state analog and inhibitor of human MTAP.

Editor's choice: In human airway epithelial cells, the loss of EHF protein enhances CFTR activity, leads to transcriptomic changes in basal cells, increases transepithelial electrical resistance and reduces HIF-1α-mediated response to hypoxia.

Summary: This study uses a humanized yeast model to test the functional consequences of recessive, pathogenic AARS1 alleles. The data reveal that certain alleles have dominant-negative effects, indicating that carriers of these recessive variants are susceptible to dominant AARS1-associated neuropathy.

Summary: This study developed an anti-DWORF antibody capable of recognizing the canine protein and revealed reduced DWORF expression in Duchenne muscular dystrophy (DMD) dogs, thus laying the groundwork for DWORF-based gene therapy to treat DMD.

Summary: This study examines the impact of rhodopsin mislocalization on rod photoreceptor synaptic structures and synaptic protein levels using P23H-RFP rhodopsin mutant mice and other mouse models of rhodopsin mislocalization.

Summary: We generated mutant zebrafish lacking slc25a22a, ortholog of an epilepsy gene identified in a patient with epilepsy. The mutant exhibited key epilepsy features, including spontaneous seizures and hyperexcitability, both of which were inhibited by valproic acid.

Summary: Alcohol exposure affects methionine metabolism and the regulation of developmentally essential genes in an in vitro model of human gastrulation.

Summary: Human tumors with similar metabolic signatures to fly tumors have lower mutational load. Depletion of key metabolites may be an evolutionarily ancient driving force for tumorigenesis.

Summary: This study provides insight into the mechanisms leading to eye malformation in fzd5 mutants and highlights the importance of considering multiple genetic defects when searching for the molecular aetiology of ocular malformations in humans.

Summary: This study established a noninvasive and efficient in vitro drug screening technique based on morphology-based phenotypic analysis using a muscle cell model of spinal and bulbar muscular atrophy.