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Role of mitochondrial antioxidant defense systems in fatty acid β-oxidation defects
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Orientador(es)
Resumo(s)
Mitochondrial fatty acid oxidation (FAO) plays a pivotal role in energy
homeostasis, namely during periods of fasting or metabolic stress. FAO defects
are a group of inherited metabolic disorders that encompass at least twelve
distinct enzyme or transporter deficiencies, and can present with a wide range
of clinical symptoms with various degrees of severity. Besides recent advances,
many doubts still remain on the degree and characteristics of mitochondrial
dysfunction on FAOD and its contribution to the clinical phenotype.
Descrição
Palavras-chave
Doenças Genéticas Mitochondrial fatty acid oxidation