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Title: Defective protein folding and function in metabolic disorders: studies on the mitochondrial flavoenzyme ETF
Author: Henriques, Bárbara J.
Advisor: Gomes, Cláudio M.
Defense Date: Oct-2010
Publisher: Instituto de Tecnologia Química e Biológica, Universidade Nova de Lisboa
Abstract: 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.(...)
Description: Dissertation presented to obtain the PhD degree in Biochemistry at the Instituto de Tecnologia Química e Biológica, Universidade Nova de Lisboa
Appears in Collections:ITQB: PBFS - PhD Theses

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