Mark Farrant

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

Widely used CaMKII regulatory segment mutations cause tight actinin binding and dendritic spine enlargement in unstimulated neurons

This study shows that CaMKII T305A/T306A mutations cause tight actinin binding and dendritic spine enlargement in unstimulated neurons, suggesting a structural role for CaMKII in LTP.

Intracellular NASPM allows an unambiguous functional measure of GluA2-lacking calcium-permeable AMPA receptor prevalence

The paper introduces NASPM as a tool to unambiguously measure calcium-permeable AMPA receptor prevalence by blocking GluA1 currents regardless of auxiliary subunits.

Homomeric Q/R edited AMPA receptors conduct when desensitized

The paper shows homomeric Q/R edited AMPA receptors allow ion flow when desensitized, challenging the notion that desensitized channels are non-conducting.