Search Results - "Ventura, Fatima V"

Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient by Violante, Sara, IJlst, Lodewijk, te Brinke, Heleen, Koster, Janet, Tavares de Almeida, Isabel, Wanders, Ronald J.A., Ventura, Fátima V., Houten, Sander M.

“…Fatty acid β-oxidation may occur in both mitochondria and peroxisomes. While peroxisomes oxidize specific carboxylic acids such as very long-chain fatty acids,…”
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Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines by Violante, Sara, IJlst, Lodewijk, Brinke, Heleen te, Almeida, Isabel Tavares, Wanders, Ronald J. A., Ventura, Fátima V., Houten, Sander M.

“…Acylcarnitines are commonly used in the diagnosis of mitochondrial fatty acid β‐oxidation disorders (mFAODs). It is generally assumed that this plasma…”
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Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase by Madeira, Catarina A, Anselmo, Carolina, Costa, João M, Bonito, Cátia A, Ferreira, Ricardo J, Santos, Daniel J V A, Wanders, Ronald J, Vicente, João B, Ventura, Fátima V, Leandro, Paula

“…Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is associated with ACADM gene mutations, leading to an impaired function and/or structure of…”
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Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism by Violante, Sara, IJlst, Lodewijk, Ruiter, Jos, Koster, Janet, van Lenthe, Henk, Duran, Marinus, de Almeida, Isabel Tavares, Wanders, Ronald J.A., Houten, Sander M., Ventura, Fátima V.

“…Carnitine acyltransferases catalyze the reversible conversion of acyl-CoAs into acylcarnitine esters. This family includes the mitochondrial enzymes carnitine…”
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Unveiling the Pathogenic Molecular Mechanisms of the Most Common Variant (p.K329E) in Medium-Chain Acyl-CoA Dehydrogenase Deficiency by in Vitro and in Silico Approaches by Bonito, Cátia A, Nunes, Joana, Leandro, João, Louro, Filipa, Leandro, Paula, Ventura, Fátima V, Guedes, Rita C

“…Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common genetic disorder affecting the mitochondrial fatty acid β-oxidation pathway. The…”
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The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders by Houten, Sander M, Violante, Sara, Ventura, Fatima V, Wanders, Ronald J.A

“…Mitochondrial fatty acid β-oxidation (FAO) is the major pathway for the degradation of fatty acids and is essential for maintaining energy homeostasis in the…”
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The European Medicines Agency's scientific opinion on oral fexinidazole for human African trypanosomiasis by Pelfrene, Eric, Harvey Allchurch, Martin, Ntamabyaliro, Nsengi, Nambasa, Victoria, Ventura, Fátima V, Nagercoil, Nithyanandan, Cavaleri, Marco

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Insights into Medium-chain Acyl-CoA Dehydrogenase Structure by Molecular Dynamics Simulations by Bonito, Cátia A., Leandro, Paula, Ventura, Fátima V., Guedes, Rita C.

“…The medium‐chain acyl‐CoA dehydrogenase (MCAD) is a mitochondrial enzyme that catalyzes the first step of mitochondrial fatty acid β‐oxidation (mFAO) pathway…”
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Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling by Violante, Sara, IJlst, Lodewijk, van Lenthe, Henk, de Almeida, Isabel Tavares, Wanders, Ronald J., Ventura, Fátima V.

“…Over the last years acylcarnitines have emerged as important biomarkers for the diagnosis of mitochondrial fatty acid β-oxidation (mFAO) and branched-chain…”
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Inhibition of adenine nucleotide transport in rat liver mitochondria by long-chain acyl-coenzyme A β-oxidation intermediates by Ventura, Fátima V., Tavares de Almeida, Isabel, Wanders, Ronald J.A.

“…Long-chain acyl-coenzyme A esters (LCAC), which may accumulate under different pathological conditions and especially in patients with a mitochondrial fatty…”
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Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era by Janeiro, Patrícia, Jotta, Rita, Ramos, Ruben, Florindo, Cristina, Ventura, Fátima V., Vilarinho, Laura, Tavares de Almeida, Isabel, Gaspar, Ana

“…Fatty acid β-oxidation (FAO) disorders have a wide variety of symptoms, not usually evident between episodes of acute decompensations. Cardiac involvement is…”
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The Biochemistry and Physiology of Mitochondrial Fatty Acid [Beta]-Oxidation and Its Genetic Disorders by Houten, Sander M, Violante, Sara, Ventura, Fatima V, Wanders, Ronald JA

“…Mitochondrial fatty acid β-oxidation (FAO) is the major pathway for the degradation of fatty acids and is essential for maintaining energy homeostasis in the…”
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Quantitative acylcarnitine profiling in fibroblasts using [U- 13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects by Ventura, Fátima V., Costa, Catarina G., Struys, Edward A., Ruiter, Jos, Allers, Paul, Ijlst, Lodewijk, Tavares de Almeida, Isabel, Duran, Marinus, Jakobs, Cornelis, Wanders, Ronald J.A.

“…A method was developed for the investigation of mitochondrial fatty acid β-oxidation in cultured fibroblasts. Monolayer cultures were incubated without foetal…”
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Inhibition of oxidative phosphorylation by palmitoyl-CoA in digitonin permeabilized fibroblasts: implications for long-chain fatty acid β-oxidation disorders by Ventura, Fátima V., Ruiter, Jos P.N., IJlst, Lodewijk, Almeida, Isabel T., Wanders, Ronald J.A.

“…Long-chain fatty acid oxidation deficient patients present early in life with more severe features than patients with a medium-chain fatty acid oxidation…”
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Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates--evidence for a reverse carnitine cycle in mitochondria by Ventura, F V, Ijlst, L, Ruiter, J, Ofman, R, Costa, C G, Jakobs, C, Duran, M, Tavares de Almeida, I, Bieber, L L, Wanders, R J

“…Using isolated rat liver mitochondria, in the absence or presence of malonyl-CoA (an inhibitor of carnitine palmitoyltransferase I), we have found that…”
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Carnitine palmitoyltransferase II specificity towards β‐oxidation intermediates by Ventura, Fátima V., Ijlst, Lodewijk, Ruiter, Jos, Ofman, Rob, Costa, Catarina G., Jakobs, Cornelis, Duran, Marinus, De Almeida, Isabel Tavares, Bieber, Loran L., Wanders, Ronald J. A.

“…Using isolated rat liver mitochondria, in the absence or presence of malonyl‐CoA (an inhibitor of carnitine palmitoyltransferase I), we have found that…”
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