Integration of GWAS summary statistics with extensive 3D genomic datasets generated in a myriad of different cell types provides genomic insights into pediatric obesity pathogenesis.
High-throughput animal tracking and quantitative behaviour analysis detects diverse phenotypes in genetic disease models at a scale that makes drug screens possible.
Variants in FGF13, associated with developmental and epileptic encephalopathies, alter neuronal excitability by affecting inhibitory neurons and by a sodium channel-independent mechanism.
Angel D'Oliviera, Xuhang Dai ... Jeffrey S Mugridge
The SARS-CoV-2 main protease specifically cleaves a conserved sequence in the human tRNA modifying enzyme TRMT1, resulting in reduced tRNA binding and the complete loss of TRMT1-mediated tRNA methyltransferase activity.
Timothy J Abreo, Emma C Thompson ... Edward C Cooper
A single amino acid change in a neuronal ion channel called KCNQ2 blocks ion flow, prevents protein localization on axons, and results in severe epilepsy and slowed neurological development.
