A5048653054- Genetics, Aging, and Longevity in Model Organisms
- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- Mitochondrial Function and Pathology
- Galectins and Cancer Biology
- Glycosylation and Glycoproteins Research
- Congenital heart defects research
- Genetic Neurodegenerative Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Glycogen Storage Diseases and Myoclonus
- Caveolin-1 and cellular processes
- Carbohydrate Chemistry and Synthesis
- Alzheimer's disease research and treatments
- Calcium signaling and nucleotide metabolism
- Photoreceptor and optogenetics research
- Phytochemistry and Bioactive Compounds
- Spaceflight effects on biology
- Cholinesterase and Neurodegenerative Diseases
- Medicinal Plants and Neuroprotection
- Plant Molecular Biology Research
University of Minho
2012-2020
Universidade do Porto
2003-2010
National Institute of Health Dr. Ricardo Jorge
2010
Zero to Three
2010
Centro de Genética Clínica
2006-2007
Polyglutamine diseases are a class of dominantly inherited neurodegenerative disorders for which there is no effective treatment. Here we provide evidence that activation serotonergic signalling beneficial in animal models Machado-Joseph disease. We identified citalopram, selective serotonin reuptake inhibitor, small molecule screen FDA-approved drugs rescued neuronal dysfunction and reduced aggregation using Caenorhabditis elegans model mutant ataxin 3-induced neurotoxicity. MOD-5, the C....
Neuronal ceroid lipofuscinoses (NCLs) represent a group of children's inherited neurodegenerative disorders caused by mutations in at least eight different genes. Mutations the CLN5 gene result Finnish variant late infantile NCL characterized gradual loss vision, epileptic seizures, and mental deterioration. The encodes lysosomal glycoprotein unidentified function. In this study, we have used both transient stable expression systems for characterization CLN5, focusing on localization,...
The neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of autosomal recessive neurodegenerative diseases comprising Batten and other related plus numerous variants. They characterized by progressive cell death. CLN6 gene was recently identified, mutations in which cause one the variant late infantile forms NCL (vLINCL). We describe four novel gene. This brings total number known to 11 38 families. suggests that may be highly mutable. An American patient Irish/French/Native...
Rare, recurrent genomic imbalances facilitate the association of genotype with abnormalities at "whole body" level. However, cellular level, functional consequences and how they can be linked to phenotype are much less investigated.We report an example a analysis two genes from new, overlapping microdeletion 2p13.2 region (from 72,140,702-72,924,626). The subjects shared intellectual disability (ID), language delay, hyperactivity, facial asymmetry, ear malformations, vertebral and/or...
Here, we present the data on biological effects of Hyptis spp. and Lycium plant extracts in Caenorhabditis elegans (C. elegans) models neurodegenerative diseases, which is related to work presented article "Neurotherapeutic effect leaf C. tauopathy polyglutamine disease: role glutathione redox cycle" [1]. This dataset was generated define non-toxic concentrations these assess their impact motor phenotype oxidative stress resistance transgenic two genetically defined diseases: Machado-Joseph...