Diana Duarte Lobo

This study investigates the role of aging in Machado-Joseph disease by analyzing age-related markers in human and animal models, finding decreased lamins and ZMPSTE24 levels and nuclear abnormalities.

This paper develops and tests rAAV-delivered bicistronic artificial microRNAs to selectively silence mutant ATXN3 in SCA3 mouse models, showing improved motor function and reduced mutant protein aggregates.

This study evaluates AAV9-miR-ATXN3 in a non-human primate model of SCA3, showing reduced neuropathology through allele-specific silencing of mutant ATXN3.

The paper develops a 3D human CNS model from hiPSCs to study immune responses to rAAV gene therapy, finding that iMGL-iNSpheroids show mild, transient inflammation to rAAV9.

This study investigates circadian rhythm disruptions in Machado-Joseph disease patients and preclinical models, finding impaired clock gene expression and disrupted activity and temperature rhythms.

The paper presents a screening assay to identify efficient sgRNAs for CRISPR activation and provides a cloning workflow for viral vector integration.

This paper optimizes size exclusion chromatography (SEC) for isolating biologically active EV-AAVs for non-invasive brain gene delivery, showing higher recovery and transgene expression efficiency compared to differential ultracentrifugation.