Emily K. Osterweil

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

This study shows that AAV-FMR1 gene therapy restores auditory circuit function and prevents audiogenic seizures in Fmr1-/y mice by normalizing translation and excitatory/inhibitory balance in the inferior colliculus.

This study reduces FMR1 expression in human cortical slices to model Fragile X syndrome, revealing cell type-specific transcriptomic and electrophysiological changes not observed in mouse models.

This paper demonstrates that modified self-amplifying RNA (saRNA) enables long-lasting protein expression in mouse and human brain tissues.

The paper identifies mistranslated long mRNAs in Syngap+/- CA1 neurons linked to LTP deficits, showing distinct translation changes compared to Fmr1-/y model.

This study shows that female mice's neocortex is more resilient to food restriction than males, with males showing changes in energy-regulating pathways and ATP usage.

This study investigates synaptic function in a Cdkl5 KO rat model of CDKL5 deficiency disorder, finding normal NMDA and AMPA receptor function but altered synaptic density and plasticity.

The paper identifies excessive ribosomal protein translation as a key factor in Fragile X Syndrome by showing its role in disrupting synaptic protein translation and LTD.

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

This study compares lovastatin and simvastatin in a fragile X mouse model, finding lovastatin corrects neurological phenotypes while simvastatin does not.