Ipatimup

RESEARCHDIAGNOSTICSTRANSLATIONOUTREACH

Maria Quental

Name: Maria Quental

E-mail: mquental@ipatimup.pt

Extension:

225570700

Maria Quental

Member of

Research Technician of Ipatimup Diagnostics

Short CV

Personal data
Name: Maria Sofia Ferreira Pacheco Quental
Institutional address: Rua Dr. Roberto Frias s/n, 4200-465 Porto, Portugal
Institutional contact: +351 225570700
Email: mquental@ipatimup.pt
Nationality: Portuguesa
Birth date: 11/12/1982

Professional activities
Since February 2010 - Post-doctoral researcher; Project: ""Refining the role of microRNAs as co-regulators of branched chain a-ketoacid dehydrogenase complex""; Ipatimup.
January 2006 – January 2010 - PhD student; Project title: “Expression and structural investigation of the mutational spectrum of Portuguese Maple Syrup Urine Disease patients”; Supervisor: Prof. Maria João Prata Martins Ribeiro. Ipatimup and Faculty of Sciences University of Porto.
November 2004 – November 2005 - Granted graduate student in the project ""Childhood acute lymphoblastic leukemia treatment and susceptibility: influence from genetic factors of detoxifying enzymes"" (POCTI/MGI/45076/2002).
February 2004 – November 2004 - Trainee in the project: “Childhood acute lymphoblastic leukemia treatment and susceptibility: influence from genetic factors of detoxifying enzymes”. Supervisors: Prof. Maria João Prata and Doctor Sandra Alves.

Academic degrees
January 2010 – PhD in biology, Thesis title: ”Expression and structural investigation of the mutational spectrum of Portuguese Maple Syrup Urine Disease patients”. Faculty of Sciences, University of Porto.
July 2004 - MSc in biology (licentiate degree of 4 years); Final classification of 16 (0-20); Faculty of Sciences University of Porto.

Supervising experience
Master students
2013- Joana Teixeira. “A study on pharmacogenetic polymorphisms in a Portuguese Gypsy community”; Master in forensic genetics; Faculty of Sciences, University of Porto.
2012 - Nawel Jaafar. “Molecular characterization of MSUD patients from Tunisia”; Higher Institute of Biotechnology of Monastir, Tunisia.
2012 - Marisa Oliveira. “Study of genetic polymorphisms implicated in sensitivity to ta

Highlights

Study of the metabolism of the branched chain amino acids, namely in what concerns to the process carried out by the branched-chain alpha-ketoacid dehydrogenase complex - BCKD.
Investigation of the mutational spectrum of Maple Syrup Urine Disease as well as of the genetic factors involved in phenotypic variability.
Investigation of the genetic variability in drug metabolizing enzymes (pharmacogenetics).

First Author

1. 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 73: 298-303, 2009. [Article]

doi: 10.1111/j.1469-1809.2009.00518.x PMID: 19456321.

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2. 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 94: 148-56, 2008. [Article]

doi: 10.1016/j.ymgme.2008.02.008 PMID: 18378174.

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3. Quental S, Martins E, Vilarinho L, Amorim A, João Prata M

Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination. Journal of inherited metabolic disease 31 Suppl 2: 457-60, 2008. [Article]

doi: 10.1007/s10545-008-1046-z PMID: 19085071.

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Senior Author

1. Jaafar N, Moleirinho A, Kerkeni E, Monastiri K, Seboui H, Amorim A, Prata MJ, Quental S

Molecular characterization of maple syrup urine disease patients from Tunisia. Gene 517: 116-9, 2013. [Article]

doi: 10.1016/j.gene.2012.12.097 PMID: 23313820.

2.1

@ 2014 Ipatimup Institute of Molecular Pathology and Immunology of the University of Porto