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| Manuela Grazina |
| Ph.D. |
| University of Coimbra |
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Instituto de Bioquímica
Faculdade de Medicina
Pólo III
Subunidade I de Ensino
2º andar, G. 2.31
Azinhaga Sta. Comba Celas
3000-354 COIMBRA
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Ph. |
+351 239 480040 |
| Fax |
+351 239 480048 |
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| Research |
Our interests are mainly focused in translational research of Metabolic and Degenerative disorders.
We have developed biochemical and genetic tests as tools for diagnosis. Our attention has been focused on the mitochondria as the powerhouse of the cell. In particular, we perform the search for mitochondrial genome (mtDNA) alterations (point mutations, rearrangements) and mitochondrial respiratory chain (MRC) complexes deficiency in diseases involving the energy metabolism system (mitochondrial cytopathies).
We also evaluate the amino acid profile in biological fluids (plasma, urine, cerebral spinal fluid) of patients affected with metabolic disorders for diagnosis, diet/ liver transplant control and follow-up.
We are much interested in studying the relevance of mtDNA sequence variations and MRC dysfunction in degenerative disorders, such as Alzheimer’s and Frontotemporal dementia, multiple sclerosis or eye diseases. Additionally, we investigate risk factors such as APO-E ε4, and other genes (e.g. COMT). The finding biological markers (in blood, cerebral spinal fluid) to neurodegenerative diseases is one of our goals in translational research.
We have some ongoing projects, in order to implement mtDNA mutations quantification (real time qPCR), RNA studies (mRNA levels in patients undergoing renal transplantation), and cellular models to evaluate the effects/toxicity of specific drugs to mtDNA and MRC. Pyruvate dehydrogenase (PDH) and Krebs cycle enzymes activity evaluation are also been implemented for diagnosis and research purposes.
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| Group members |
| Cândida Mendes |
MSc Student
Graduate Technician |
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| Carla Veríssimo |
Graduate Technician
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| João Pratas |
Graduate Technician
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| Maria J. Santos |
MSc Student
Graduate Technician |
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| Marta Simões |
MSc Student
Graduate Technician |
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| Miguel Oliveira |
Graduate Technician
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| Carolina Ribeiro |
Junior Scientist
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| Daniela Luis |
Junior Scientist
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| Alexandra Estevinho |
Junior Superior Technician
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| Teresa Lapa |
MD MSc Student
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| Collaborations |
Prof. Jan Smeitink; Neijmegen, Holland
Prof. Patrick Chinnery, New Castle upon Tyne, UK
Prof. Vija Klusa; University of Latvia, Latvia
Dr Patrizia Amati-Bonneau, Angers, France
Centro de Histocompatibilidade do Centro, Coimbra, Portugal
Hospital Pediátrico de Coimbra, Portugal
Hospitais da Universidade de Coimbra, Portugal
IBILI; Coimbra, Portugal
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| Informação Adicional e Publicações |
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