Catherine M. Abbott

The paper investigates the E122K mutation in EEF1A2, showing it affects specific transcript translation but not global protein synthesis rate in neurons.

This paper creates a mouse model of the EEF1A2 E122K mutation, showing early motor defects and electrographic seizures, with insights into its pathogenic mechanisms.

The paper uses gene editing to tag eEF1A2 in mice, revealing its early embryonic expression and distinct subcellular localization compared to eEF1A1 in neurons.

This study shows that loss of SORCS2 increases DNA double-strand breaks in neurons, linking it to neurodegenerative processes.

The paper identifies rare CRE variants associated with X-linked intellectual disability by combining sequencing, functional assays in zebrafish and mice, and phenotypic analysis.

The paper investigates the role of eEF1A2 in zebrafish by generating null mutations and compares phenotypes with morphants and mice, finding zebrafish can survive without eEF1A2.