CV Lattes
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Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. Escola Paulista de Medicina (EPM) (Institutional affiliation for the last research proposal) Birthplace: Brazil
Graduation in chemisty at the Universidade de São Paulo (1985), m.sc. in Molecular Biology at the Universidade Federal de São Paulo (1989) and Ph.D. in molecular biology at the Universidade Federal de São Paulo (1992), postdoctoral studies in molecular biology from the University of Heidelberg, Germany (1993) and postdoctoral studies from the Max-Delbrück Institute for molecular Medicine in Berlin, Germany (1996). Full Professor at the Federal University of São Paulo. Has experience in Biochemistry, Molecular Biology with emphasis on the following subjects: molecular analysis of genes linked to inborn errors of metabolism, kallikrein-kinin, renin-angiotensin system, molecular biology and transgenic animals. Co-founder of the biotechnology companies Proteobrás Biotechnological Development Ltd. (www.proteobras.com.br) and Exxtend Solution Oligos (www.exxtend.com.br). (Source: Lattes Curriculum)
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Currently, one of the great challenges in medical research is to model cells in vitro capable of recapitulating physiological processes in the most similar way possible to complex organisms. The difficulty of obtaining specialized cells for studies in laboratories such as cardiomyocytes, endothelial cells and neurons has always been a challenge for the development of more accurate studies…
The central biological questions of our RIDC is the investigation of basic mechanisms that lead to epilepsy and stroke and the injury mechanisms that follow the disease onset and progression, and are related to prevention, treatment and rehabilitation. Our goals are to develop new methods and techniques to improve the understanding of mechanisms of damage, plasticity and repair in epileps…
Hereditary angioedema (HAE) is an autosomal dominant disease characterized by C1 esterase inhibitor (C1-INH) quantitative (type I) or functional (type II) deficiency, with more than 500 mutations identified (The Human Gene Mutation Database, http://www.hgmd.cf.ac.uk/ac/index.php). C1-INH is a secreted glycoprotein of the serpin family that inhibits several proteases of the classical and l…
New models of organization and health practices in Brazil are efforts to improve services and an approach based not only on the disease, but in the health-disease process aiming prevention and quality of life. The emphasis on healthy habits among the population is a milestone, increased motivation to adopt healthy habits, greater interest in having a healthy body, further knowledge on gen…
(Only some records are available in English at this moment)
Fabry disease (FD) is an inborn error of the metabolism caused by mutations in the GLA gene (GLA; OMIM * 300644), located on the X chromosome. Defects in GLA lead to ±-galactosidase A deficiency (alpha-Gal A; .1.22), responsible for degrading glycosphingolipids, mainly globotriaosylceramide (Gb3). The ± -Gal A is present in all tissues; the deficiency of this enzyme results in a progressi…
The Fabry Disease (FD) is a rare pathology caused by variants presents in the GLA gene, localized in the long arm of the X chromosome. Pathogenic variants in this gene lead to low activity in different levels of the enzyme alfa-galactosidase A (±-Gal A), causing an acummulation of the globotriaosylceramide (Gb3) in the lysosomes. This disease presents two phenotype classifications, classi…
Fabry Disease (DF) is an X-linked disease caused by mutations in the ±-galactosidase A (GLA) gene. These mutations result in an altered enzyme and consequently cause the accumulation of glycosphingolipids, mainly globotriaosilceramide (Gb3). The accumulation of glycosphingolipids induces pathogenic alterations in several organs, including the heart, and Fabry's cardiomyopathy is the most …
Mucopolysaccharidosis type I (MPSI) is an inborn error of metabolism of autosomal inheritance, with progressive character, due to the deficiency of the alpha-L-iduronidase enzyme, responsible for the degradation of glycosaminoglycans (GAGs) dermatam sulfate and heparam sulfate, leading to these substances storage in lysosomal. Lysosomal storage leads to various cellular and tissue dysfunc…
(Only some records are available in English at this moment)
Enchondromas are benign cartilaginous tumors that arise from the medulla of bones, typically in the metaphysis. They can arise as solitary or as multiple lesions, such as in the context of Ollier disease (OD) or Maffucci syndrome (MS). Somatic mutations in IDH1 and IDH2 have been identified in the enchondromas, chondrosarcomas, and vascular anomalies of ~80% of the individuals with OD an…
Autistic spectrum disorder (ASD) is a complex neurodevelopmental disorder in which different combinations of genetic mutations can contribute to the phenotype. In view of the extensive genetic heterogeneity and the lack of human cell models, it is still a great challenge to clarify the complexity of these disorders. However, the use of reprogrammed somatic cells from patients (induced plu…
Muscle injury is the most frequent event among athletes of various modalities, reaching 55% of injury cases in athletes and it occurs in both recreational and competitive activities. Fibrosis is perhaps the most detrimental complication that occurs during the healing process and represents an important therapeutic target for the treatment of muscle injuries. A recent study completed in Pr…
The hereditary angioedema (HAE) is an autosomal dominant inherited disease characterized by painful edema episodes with variable localization and severity. Most of diagnosed patients present either mutation on C1 inhibtor gene (C1-INH), with abnormal levels or functionality (HAE type I and II, respectively) or Factor 12 (FXII) gene (HAE Type 3). These mutations leads to a super production…
Hereditary angioedema (HAE) is mainly known as an autosomal dominant disease characterized by C1 esterase inhibitor (C1-INH) deficiency. C1-INH inhibits proteases of the complement pathways, coagulation factors XI (FXI) and XII (FXII), plasma kallikrein (KK), and its deficiency results in an uncontrolled release of bradykinin (BK), which binds to the kinin B2 receptor (B2R) leading to inf…
(Only some records are available in English at this moment)
| 2 / 2 | Ongoing research grants |
| 25 / 13 | Completed research grants |
| 1 / 1 | Ongoing scholarships in Brazil |
| 74 / 35 | Completed scholarships in Brazil |
| 2 / 2 | Ongoing scholarships abroad |
| 4 / 4 | Completed scholarships abroad |
| 108 / 57 | All research grants and scholarships |
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