A5102957097- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- Glycosylation and Glycoproteins Research
- Trypanosoma species research and implications
- Carbohydrate Chemistry and Synthesis
- T-cell and B-cell Immunology
- RNA Research and Splicing
- Bariatric Surgery and Outcomes
- DNA Repair Mechanisms
- Hereditary Neurological Disorders
- Blood groups and transfusion
- Genetic Syndromes and Imprinting
- BRCA gene mutations in cancer
- Erythrocyte Function and Pathophysiology
- Prenatal Screening and Diagnostics
- Neurological diseases and metabolism
- Genomic variations and chromosomal abnormalities
- Immune Response and Inflammation
- Physiological and biochemical adaptations
- CRISPR and Genetic Engineering
- Immune Cell Function and Interaction
- Cellular Mechanics and Interactions
- Diabetes Treatment and Management
- RNA regulation and disease
- RNA and protein synthesis mechanisms
Esteve Química (Spain)
2015
Barcelona Biomedical Research Park
2010
Centre for Biomedical Network Research on Rare Diseases
2008
Universitat de Barcelona
2005-2008
Institut de Biomedicina de la Universitat de Barcelona
2007-2008
Instituto de Investigación de Enfermedades Raras
2008
Centro de Investigación Biomédica en Red
2007
GM1-gangliosidosis and Morquio B disease are rare lysosomal storage disorders caused by β-galactosidase deficiency due to mutations in the GLB1 gene. Three major clinical forms of have been established on basis age onset severity symptoms: infantile, late infantile/juvenile, adult. We performed mutation analysis 30 five patients, mainly Spanish origin, all causative were identified. Thirty different found, 21 which novel. With exception two adults one juvenile patient, patients affected...
GM1-gangliosidosis and Morquio B disease are lysosomal storage disorders caused by beta-galactosidase deficiency attributable to mutations in the GLB1 gene. On reaching endosomal-lysosomal compartment, protein associates with protective protein/cathepsin A (PPCA) neuraminidase proteins form multienzyme complex (LMC). The correct interaction of these is essential for their activity. More than 100 have been described patients, but few further characterized. We expressed 12 suspected be...
Gaucher disease is an autosomal recessive lysosomal storage that mainly due to mutations in the GBA gene. Most of mutant alleles described so far bear a single mutation. However, there are few bearing two or more DNA changes. It has been reported patients homozygous for [D409H;H255Q] double allele (HGVS-approved nomenclature, p.[D448H;H294Q]) present severe phenotype than relatively common D409H In this study, we confirmed detrimental cumulative effect these at enzymatic activity level by...
The human GLB1 gene is known to give rise two alternatively spliced mRNAs, which encode different proteins: lysosomal beta-galactosidase (beta-gal) and elastin-binding protein (EBP). beta-gal transcript includes the 16 exons of gene. In EBP transcript, 3, 4 6 are skipped, while exon 5 has a reading frame. However, little on how this alternative splicing regulated.Cycloheximide treatment HeLa cells fibroblasts revealed presence new transcripts that otherwise degraded by nonsense-mediated...
Abstract To retrospectively evaluate the successful test rate and performance of non-invasive prenatal screening (NIPS) for aneuploidies microdeletions with international transportation samples. Blood samples from Iberian women singleton pregnancies were sent to a US laboratory NIPS aneuploidy microdeletion syndromes (22q11.2, 1p36, Cri-du-chat, Prader Willi Angelman). The methodology involved analysis single nucleotide polymorphisms in cell-free DNA maternal plasma. Women high-risk results...