Magda M. Santana

rAAV-Delivered Bicistronic Artificial microRNAs for Allele-Specific Silencing Improve Motor and Molecular Outcomes in Spinocerebellar Ataxia Type 3

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.

Circadian Rhythms are Disrupted in Patients and Preclinical Models of Machado-Joseph Disease

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.

Gene Editing for ATXN3 Inactivation in Machado-Joseph disease: CRISPR-Cas9 as a Therapeutic Alternative to TALEN-Induced Toxicity

This study compares CRISPR-Cas9 and TALEN gene editing in a mouse model of Machado-Joseph disease, showing CRISPR-Cas9 reduces ATXN3 aggregates and delays disease progression.

Small non-coding RNA content in plasma-derived extracellular vesicles distinguish ataxic SCA3 mutation carriers from pre-ataxic and control subjects

Isolation of Biologically Active Extracellular Vesicles-Associated AAVs for Gene Delivery to the Brain by Size Exclusion Chromatography

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.

Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease

The paper identifies and compares the abundance of ATXN3 splice variants in blood and cerebellum of SCA3/MJD patients and controls, finding tissue-specific expression patterns of full-length ataxin-3 isoforms.