CV Lattes
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ORCID
Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. Escola Paulista de Medicina (EPM) (Institutional affiliation from 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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Porphyria Cutaneous Tarda (PCT) is a multifactorial disorder in heme synthesis, defined by reduced activity of the enzyme uroporphyrinogen decarboxylase (UROD) and subdivided into three clinically indistinguishable subtypes. PCT is characterized by non-inflammatory vesicobullous skin lesions that rupture and form scars or atrophic areas on the back of the hands, forearms, legs and feet, i…
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…
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…
(Only some records are available in English at this moment)
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 metabolism caused by mutations in the gene for the enzyme ±-galactosidase A (GLA) located on the X chromosome. These mutations result in deficiency of the enzyme ±-galactosidase A (±-Gal A), causing the accumulation of globotriaosylceramide (Gb3). ±-Gal A deficiency results in pathogenic changes in several organs, including Fabry cardiomyopathy, wi…
Fabry disease (FD) is an inborn error of metabolism caused by mutations in the GLA gene located on the X chromosome. Defects in this gene lead to ±-galactosidase A (±-Gal A) deficiency, an enzyme responsible for degrading glycosphingolipids, mainly globotriaosylceramide (Gb3). ±-Gal A is present in all tissues, and its deficiency results in progressive multisystem disease. SCD covers a wi…
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 …
(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…
(Only some records are available in English at this moment)
| 4 / 4 | Ongoing research grants |
| 25 / 13 | Completed research grants |
| 1 / 1 | Ongoing scholarships in Brazil |
| 76 / 37 | Completed scholarships in Brazil |
| 6 / 6 | Completed scholarships abroad |
| 112 / 61 | All research grants and scholarships |
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