Refugio A. Martinez

The paper presents a barcoded multiplex strategy to screen enhancer AAVs using single-cell RNA sequencing and taxonomy mapping, but finds significant technical and biological noise complicates accurate expression pattern analysis.

This study shows that cell type-specific AADC expression in Parkinson's disease models reduces motor deficits and dyskinesia more effectively than broad targeting.

The paper develops a cross-species enhancer-AAV toolkit for targeting specific cell types in the basal ganglia across species, validated in mouse and macaque.

The paper identifies enhancers for spinal motor neurons and develops AAV vectors to target these cells in rodents and macaques, enabling functional studies and potential therapeutic applications.

The paper presents an enhancer AAV toolbox for targeting and perturbing striatal cell types and circuits in mice, with validated specificity and cross-species applicability.

The paper develops a toolkit of transgenic mouse lines and enhancer AAVs for selective targeting of cortical cell populations using transcriptomic and epigenomic data.

This study demonstrates that interneuron-specific AAV-mediated SCN1A gene replacement significantly rescues Dravet syndrome symptoms in mouse models.

The paper develops AAV-based genetic tools to specifically target astrocytes and oligodendrocytes across species, revealing functional roles in reward-dependent acetylcholine responses.

The paper tests if a retromer stabilizing drug, TPT-260, can correct endosomal and Alzheimer's-related pathologies in neurons with SORL1 variants.

The paper identifies enhancer elements that drive subclass-specific gene expression in neocortex across mouse, primate, and human species using comparative epigenetics and AAV-based functional assays.