RESEARCH ACTIVITIES AND INTERESTS
- Activity and function of the branched chain alpha-ketoacid dehydrogenase complex (BCKD);
- Molecular characterization of Portuguese Maple Syrup Urine Disease Patients;
EDUCATION
Jan 2006 - IPATIMUP; Emory University, School of Medicine
PhD grant for the project: “Functional, Expression and Structural investigation of the mutational spectrum of Portuguese Maple Syrup Urine Disease patients”
Sep 2000 – Jul 2004: Faculty of Sciences, University of Porto. Graduation in biology.
RECENT PUBLICATIONS
Quental S, Gusmão A, Rodríguez-Pombo P, Ugarte M, Vilarinho L, Amorim A, Prata MJ.
Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene.
Annals of Human Genetics. 2009. 73:298-303.
Quental S, Martins E, Vilarinho L, Amorim A, Prata MJ.
Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.
Journal of Inherited Metabolic Disease. 2008. online report #139.
Quental S, Macedo-Ribeiro S, Matos R, Vilarinho L, Martins E, Teles EL, Rodrigues E, Diogo L, Garcia P, Eusébio F, Gaspar A, Sequeira S, Furtado F, Lança I, Amorim A, Prata MJ.
Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
Molecular genetics and metabolism. 2008. 94:148-56.
Oliveira E, Quental S, Alves S, Amorim A, Prata MJ.
Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique.
European journal of clinical pharmacology. 2007. 63:703-6.
Oliveira E, Alves S, Quental S, Ferreira F, Norton L, Costa V, Amorim A, Prata MJ.
The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal.
J Pediatr Hematol Oncol.. 2005. 27:425-9.
RESEARCH PROJECTS
Functional, Expression and Structural investigation of the mutational spectrum of Portuguese Maple Syrup Urine Disease patients
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