Amy E. Hulme

This paper identifies cell-type-specific transcriptional biomarkers in Friedreich ataxia through meta-analysis of bulk RNA-seq datasets and develops an interactive transcriptomic atlas.

This study investigates how PSEN1 mutations in Alzheimer's disease affect neuronal excitability using iPSC-derived neurons and finds reduced excitability and altered Kv/Nav channel currents in mutant neurons.

The paper investigates REST and RCOR gene expression in human neurons and astrocytes using 2D and 3D stem cell models, finding cell-type-specific expression patterns.

This study generates human proprioceptor and low-threshold mechanoreceptor neurons from pluripotent stem cells and characterizes their molecular and functional properties.

This study identifies Elkin1 as a novel mechanically-activated ion channel essential for touch and pain sensation, independent of Piezo2.