A biallelic missense mutation in the highly conserved, neuron-specific kinase CAMK2A abrogates holoenzyme assembly and causes a new inherited neurodevelopmental disease.
New methods reveal that complex local splicing variations are more prevalent in animals than previously appreciated, and demonstrate that local splicing variations are relevant for studies of development, gene regulation and neurodegenerative diseases.
An unbiased RNAseq based strategy to identify targetable pathways and a streamlined lentiviral system provide a state of the art advance on direct fibroblast to neuron conversion.
In motor cortex pyramidal neurons, diverse task-related signals are distributed throughout the dendritic arbor and compartmentalized by dendritic distance and branching.
PTBP2 ensures that adult protein variants are expressed only in mature neurons through regulation of alternative splicing during early neuronal development.
Promoter capture Hi-C in human iPSCs and iPSC-derived cardiomyocytes provides a platform to interrogate gene-regulatory dynamics of cardiomyocyte differentiation and directly links thousands of cardiovascular disease risk loci to hundreds of distal target genes.
