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Defective protein folding and function in metabolic disorders: studies on the mitochondrial flavoenzyme ETF
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The work presented in this dissertation concerns the study of the electron
transfer flavoprotein (ETF), a protein involved in mitochondrial β-oxidation
whose deficiency is associated to multiple acyl-CoA dehydrogenase deficiency
(MADD). The thesis will focus on establishing the functional, cellular and
molecular consequences of the genetic variability in ETF, and in particular it
aims to clarify the basis for the effect of heat stress on disease progression.
Moreover, the beneficial effects of vitamin B2 supplementation will be
addressed.(...)
Descrição
Dissertation presented to obtain the PhD degree in Biochemistry at the Instituto de Tecnologia Química e Biológica, Universidade Nova de Lisboa
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Instituto de Tecnologia Química e Biológica, Universidade Nova de Lisboa