Rocio K. Finol‐Urdaneta

This paper develops a calibrated electrophysiological framework to classify CACNA1G missense variants, identifying two variants as likely pathogenic and others as benign.

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 the impact of the Kir4.2R28C mutation on channel function and cellular processes, finding it causes loss of function and disrupts protein stability and trafficking.

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.

This study shows that Vc1.1 modulates GIRK1/2 channels via GABAB receptor activation, reducing neuronal excitability and providing insights for non-opioid pain treatments.