A5061861069- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- Studies on Chitinases and Chitosanases
- Carbohydrate Chemistry and Synthesis
- Parkinson's Disease Mechanisms and Treatments
- Folate and B Vitamins Research
- Enzyme Production and Characterization
- Biofuel production and bioconversion
- Digestive system and related health
- Enzyme Catalysis and Immobilization
- Hemoglobinopathies and Related Disorders
- Genetics and Neurodevelopmental Disorders
- Trypanosoma species research and implications
- Agricultural and Food Sciences
- Race, Genetics, and Society
- Autism Spectrum Disorder Research
- Iron Metabolism and Disorders
- Rural Development and Agriculture
- Mosquito-borne diseases and control
Universidade de São Paulo
2001-2023
Brazilian Biosciences National Laboratory
2014
SRH Wald-Klinikum Gera
2006
Associação Fundo de Incentivo à Pesquisa
2006
Faculdade Evangélica do Paraná
2005
Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency which causes Gaucher's disease, among patients with Parkinson's disease. We aimed to ascertain GBA ethnically diverse group disease.Sixteen centers participated our international, collaborative study: five from Americas, six Europe, two Israel, and three Asia. Each center genotyped standard DNA panel permit comparison genotyping results across centers. Genotypes phenotypic...
Gaucher disease (GD), the most prevalent lysosome storage disorder, presents an autosomal recessive mode of inheritance. It is a paradigm for therapeutic intervention in medical genetics due to existence effective enzyme replacement therapy. We report here analysis GD 262 unrelated Brazilian patients, carried out order establish frequency common mutations and provide prognostic information based on genotype-phenotype correlations. Among 247 type 1 mutation N370S was detected 47% all alleles,...
Gaucher's disease ( GD ) is caused by a β‐glucocerebrosidase deficiency, leading to the accumulation of glucocerebroside in reticuloendothelial system. The prevalence Tabuleiro do Norte TN (1:4000) highest Brazil. purpose this study was present evidence consanguinity and founder effect for G377S mutation (c. 1246G >A) among patients based on enzyme, molecular genealogical studies. Between March 2009 December 2010, 131 subjects at risk GC dried blood ≤2.19 nmol/h/ml) 5 confirmed from same...
The enzymatic hydrolysis of cellulose and lignocellulosic materials is marked by a rate decrease along the reaction time. Cellobiohydrolase slow dissociation from substrate its inhibition cellobiose produced are relevant factors associated to decrease. In that sense, addition β-glucosidases enzyme cocktails employed in not only produces glucose as final product but also reduces cellobiohydrolase cellobiose. digestive β-glucosidase GH1 fall armyworm Spodoptera frugiperda, hereafter called...
Tay-Sachs disease is an autosomal recessive characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population incidence about 1 every 3,500 newborns and carrier frequency 29 individuals. Carrier screening programs for have reduced 90% high-risk populations several countries. The Brazilian estimated at 90,000 Currently, there no program this population.
Molecular analysis of five Brazilian families, including eight patients presenting with nonclassic Tay-Sachs disease, was performed to identify frequent causative mutations and their correlation clinical course. Three were affected by the B1 subacute variant shown carry R178H mutation (the DN allele), which is also common among Portuguese patients. Two them compound heterozygotes, whereas third presented in both alleles. Since Brazil a colony for over two centuries, ancestry might be...