A5044444248- Genetic Neurodegenerative Diseases
- Virus-based gene therapy research
- Neurological disorders and treatments
- RNA Interference and Gene Delivery
- Extracellular vesicles in disease
- Muscle Physiology and Disorders
- Advanced Fluorescence Microscopy Techniques
- Adrenal Hormones and Disorders
- Blood groups and transfusion
- Cell Image Analysis Techniques
- Amyotrophic Lateral Sclerosis Research
- Viral Infectious Diseases and Gene Expression in Insects
- Hereditary Neurological Disorders
- Business Process Modeling and Analysis
- Neurogenetic and Muscular Disorders Research
- Animal Virus Infections Studies
- Mitochondrial Function and Pathology
- Traffic Prediction and Management Techniques
- RNA Research and Splicing
- CRISPR and Genetic Engineering
- Parkinson's Disease Mechanisms and Treatments
- Ubiquitin and proteasome pathways
- Data Quality and Management
- Growth Hormone and Insulin-like Growth Factors
University of Coimbra
2020-2024
Centro Hospitalar Lisboa Norte
2024
Massachusetts General Hospital
2023
Deutschen Konsortium für Translationale Krebsforschung
2020
Adeno-associated virus (AAV) has become an increasingly valuable vector for in vivo gene delivery and is currently undergoing human clinical trials. However, the commonly used methods to purify AAVs make use of cesium chloride or iodixanol density gradient ultracentrifugation. Despite their advantages, these are time-consuming, have limited scalability, often result vectors with low purity. To overcome constraints, researchers turning attention chromatography techniques. Here, we present...
Machado-Joseph disease (MJD) is an autosomal dominantly-inherited neurodegenerative disorder, caused by over-repetition of the polyglutamine-codifying region in ATXN3 gene. Strategies based on suppression deleterious gene products have demonstrated promising results pre-clinical studies. Nonetheless, these strategies do not target root cause disease. In order to prevent downstream toxic pathways, our goal was develop editing-based permanently inactivate human TALENs and CRISPR-Cas9 systems...
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by the expansion of CAG repeat in ATXN3 gene. This mutation leads to toxic gain function ataxin-3 protein, resulting neuronal dysfunction and atrophy specific brain regions over time. As dispensable protein rodents, knockdown gene therapy may be powerful approach for treatment SCA3. In this study, we tested feasibility an adeno-associated viral (AAV) vector carrying previously described artificial microRNA against...
Machado-Joseph disease (MJD) is a fatal neurodegenerative disorder clinically characterized by prominent ataxia. It caused an expansion of CAG trinucleotide in ATXN3, translating into expanded polyglutamine (polyQ) tract the ATXN3 protein, that becomes prone to misfolding and aggregation. The pathogenesis has been associated with dysfunction several cellular mechanisms, including autophagy transcription regulation. In this study, we investigated transcriptional modifications pathway models...
Abstract Extracellular vesicles-associated adeno-associated viral vectors (EV-AAVs) emerged as a new opportunity for non-invasive gene therapy targeting the central nervous system (CNS). However, in previous reports, only AAV serotypes with known ability to cross blood-brain barrier (BBB) have been used EV-AAV production and testing through strategies. In this work, we aimed at optimizing size exclusion chromatography (SEC) protocol isolation of natural biologically active brain-targeting...
Abstract Polyglutamine disorders are a complex group of incurable neurodegenerative caused by an abnormal expansion in the trinucleotide cytosine-adenine-guanine tract affected gene. To better understand these disorders, our dependence on animal models persists, primarily relying transgenic models. In effort to complement and deepen knowledge, researchers have also developed polyglutamine employing viral vectors. Viral vectors been extensively used deliver genes brain, not only for...
Adeno-associated virus (AAV) has become an increasingly valuable vector for in vivo gene delivery and is currently undergoing human clinical trials. However, the commonly used methods to purify AAVs make use of cesium chloride or iodixanol density gradient ultracentrifugation. Despite their advantages, these are time-consuming, have limited scalability, often result vectors with low purity. To overcome constraints, researchers turning attention chromatography techniques. Here, we present...
Abstract Extracellular vesicles-associated adeno-associated viral vectors (EV-AAVs) emerged as a new opportunity for non-invasive gene therapy targeting the central nervous system (CNS). However, in previous reports, only AAV serotypes with known ability to cross blood-brain barrier (BBB) have been used EV-AAV production and testing through strategies. In this work, we aimed at optimizing size exclusion chromatography (SEC) protocol isolation of natural biologically active brain-targeting...