Luís Pereira de Almeida

This study identifies hnRNP H2's role in neuronal development and shows how disease variants disrupt its function, leading to neurodevelopmental defects.

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 study evaluates the therapeutic potential of mesenchymal stromal cells (MSC) in mitigating vascular abnormalities and blood-brain barrier (BBB) disruption in Machado-Joseph disease (MJD) transgenic mice, showing partial restoration of vascular and BBB integrity.

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 the role of astrocytic mGluR5 signaling in adult mice, showing its impact on emotional and cognitive behaviors through hippocampal function.

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.

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.

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.

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.