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Biochemistry of mammalian peroxisomes revisited.
The identification and characterization of yeast mutants defective either in the biogenesis of peroxisomes or in one of its metabolic functions, notably fatty acid beta-oxidation, combined with the recognition of a group of genetic diseases in man, wherein these processes are also defective, have provided new insights in all aspects of perxisomes. Expand
The secret life of NAD+: an old metabolite controlling new metabolic signaling pathways.
An integrated view on the pathways that control NAD(+) production and cycling, as well as its cellular compartmentalization, and novel data that show how modulation of NAD(+)-producing and -consuming pathways have a major physiological impact and hold promise for the prevention and treatment of metabolic disease are provided. Expand
A lethal defect of mitochondrial and peroxisomal fission.
We report on a newborn girl with microcephaly, abnormal brain development, optic atrophy and hypoplasia, persistent lactic acidemia, and a mildly elevated plasma concentration of very-long-chainExpand
A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation
In Inherited defects for most of the FAO enzymes have been identified and characterised and are currently included in neonatal screening programmes and will ultimately lead to better treatment. Expand
Carnitine biosynthesis in mammals.
This review aims to cover the current knowledge of the enzymological, molecular, metabolic and regulatory aspects of mammalian carnitine biosynthesis, with an emphasis on the human and rat. Expand
The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders.
The current state of knowledge on the biochemistry and physiological functions of FAO is presented and the pathophysiological processes associated with FAO disorders are discussed. Expand
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
High dose riboflavin is a potential treatment for the Brown-Vialetto-Van Laere syndrome as well as for the Fazio Londe syndrome which is considered to be the same disease entity without the deafness. Expand
Quantification of the contribution of various steps to the control of mitochondrial respiration.
Inference titration studies were carried out in order to quantify the amount of control (control strength) exerted by different steps in oxidative phosphorylation on the rate of mitochondrial oxygen uptake. Expand
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome.
Evidence is presented that patients with the rare disorder X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060) have a primary defect in CL and PG remodeling, and an essential factor in this important cellular process is identified for the first time. Expand
Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review
The cumulative consequences of VPA therapy in inborn errors of metabolism (IEMs) and the importance of recognizing an underlying IEM in cases of Vpa-induced steatosis and acute liver toxicity are two different concepts that will be emphasized. Expand