A5060339910- Lysosomal Storage Disorders Research
- Trypanosoma species research and implications
- Glycosylation and Glycoproteins Research
- Cellular transport and secretion
- Carbohydrate Chemistry and Synthesis
- CRISPR and Genetic Engineering
- Enzyme Production and Characterization
- Allergic Rhinitis and Sensitization
- Food Allergy and Anaphylaxis Research
- Infant Nutrition and Health
- Insects and Parasite Interactions
- Glycogen Storage Diseases and Myoclonus
- Mosquito-borne diseases and control
- Transgenic Plants and Applications
- Galectins and Cancer Biology
- Biochemical and Molecular Research
- Calcium signaling and nucleotide metabolism
- Metabolism and Genetic Disorders
- Autism Spectrum Disorder Research
- Child Nutrition and Feeding Issues
- Sphingolipid Metabolism and Signaling
- Research on Leishmaniasis Studies
- Biofuel production and bioconversion
- Studies on Chitinases and Chitosanases
- Coccidia and coccidiosis research
Pontificia Universidad Javeriana
2015-2024
Universidad de Extremadura
2014-2016
Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency results accumulation of GM2 ganglioside, glycosphingolipid, lysosomes. Currently, there no effective treatment for TSD. We generated induced pluripotent stem cells (iPSCs) from two TSD patient dermal fibroblast lines and further differentiated them into neural (NSCs). The exhibited phenotype lysosomal lipid...
Abstract Mucopolysaccharidosis IV A (MPS A, Morquio disease) is a lysosomal storage disease (LSD) produced by mutations on N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Recently an enzyme replacement therapy (ERT) for this was approved using recombinant in CHO cells. Previously, we reported the production of active GALNS Escherichia coli that showed similar stability properties to mammalian though it not taken-up culture In study, human methylotrophic yeast Pichia pastoris GS115...
Abstract Hunter syndrome (Mucopolysaccharidosis II, MPS II) is an X‐linked lysosomal storage disease produced by the deficiency of enzyme iduronate‐2‐sulfatase (IDS). Currently, II patients are mainly treated with replacement therapy (ERT) using recombinant enzymes in mammalian cells. As alternative, several studies have shown production active and therapeutic forms proteins microorganisms. In this paper, we report characterization a IDS yeast Pichia pastoris (prIDS). We evaluated effect...
<em>β</em>-hexosaminidases (Hex) are dimeric enzymes involved in the lysosomal degradation of glycolipids and glycans. They formed by <em>α</em>- and/or <em>β</em>-subunits encoded HEXA HEXB genes, respectively. Mutations these genes lead to Tay Sachs or Sandhoff diseases, which neurodegenerative disorders caused accumulation non-degraded glycolipids. Although tissue-derived Hex have been widely characterized, limited information is available for...
Abstract Mucopolysaccharidosis IV A (MPS IVA) is a lysosomal disorder caused by mutations in the GALNS gene. Consequently, glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate accumulate lumen. Although enzyme replacement therapy has shown essential advantages for patients, several challenges remain to overcome, such as limited impact on bone lesion recovery of oxidative profile. Recently, we validated CRISPR/nCas9-based gene with promising results an vitro MPS IVA model. In...
GM2 gangliosidoses are a group of pathologies characterized by ganglioside accumulation into the lysosome due to mutations on genes encoding for &beta;-hexosaminidases subunits or activator protein. Three have been described: Tay-Sachs disease, Sandhoff and AB variant. Central nervous system dysfunction is main characteristic patients that include neurodevelopment alterations, neuroinflammation, neuronal apoptosis. Currently, there not approved therapy gangliosidoses, but different...
The gangliosidoses GM2 are a group of pathologies mainly affecting the central nervous system due to impaired ganglioside degradation inside lysosome. Under physiological conditions, is catabolized by β-hexosaminidase A in activator protein-dependent mechanism. In contrast, uncharged substrates such as globosides and some glycosaminoglycans can be hydrolyzed B. Monogenic mutations on HEXA, HEXB, or GM2A genes arise Tay-Sachs (TSD), Sandhoff (SD), AB variant diseases, respectively. this work,...