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Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene function.
TLDR
Gene targeting in mice supported that the gene disruption led to inefficient import of phytanoyl-CoA into peroxisomes and to defective thiolytic cleavage of 3-ketopristanoysl- CoA. Expand
Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid.
TLDR
It is shown in this article that peroxisomes, and not mitochondria, are involved in DHA formation by catalyzing the beta-oxidation of C24:6n-3 to C22:6 n-3. Expand
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy
TLDR
Analysis of lipid metabolism in horses with atypical myopathy revealed increased mean excretion of organic acids, glycine conjugates, and acylcarnitines, which was suspected in 10 out of 10 cases as the possible etiology for a highly fatal and prevalent toxic equine muscle disease similar to the combined metabolic derangements seen in human multiple acyl-CoA dehydrogenase deficiency also known as glutaric acidemia type II. Expand
A case of methemoglobinemia type II due to NADH‐cytochrome b5 reductase deficiency: Determination of the molecular basis
TLDR
Two newly identified mutations, both leading to a stop codon in exon 4 (Gln77Ter) and inExon 6 (Arg160Ter), were found in the present patient and Identification of different mutations at different positions in the DIA1 gene might shed light on the clinical and biochemical differences between methemoglobinemia type I and type II. Expand
Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.
TLDR
It is shown by means of size-exclusion chromatography that there is, indeed, a deficiency of the multifunctional beta-oxidation enzyme protein in this patient. Expand
Subcellular localization and physiological role of alpha-methylacyl-CoA racemase.
TLDR
In vitro studies with purified heterologously expressed protein and in vivo studies in fibroblasts of patients with an alpha-methylacyl-CoA racemase deficiency revealed that the mitochondrial enzyme plays a crucial role in the mitochondrial beta-oxidation of the breakdown products of pristanic acid by converting (2R,6)-dimethylheptanoyl- CoA to its (S)-stereoisomer. Expand
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
TLDR
The patient presented with torticollis and dystonic head tremor as well as slight cerebellar signs with intention tremor, nystagmus, hyposmia, and azoospermia, and no SCPx protein could be detected by western blotting. Expand
Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: application to mitochondrial encephalomyopathies.
TLDR
The functional capacity of the mitochondrial oxidative phosphorylation system can be studied in cultured skin fibroblasts permeabilized with a limited amount of digitonin and may contribute to the biochemical characterization of patients suffering from one of a variety of encephalomyopathies. Expand
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal
TLDR
It is shown that the G1528C mutation is directly responsible for the loss of LCHAD activity and the gene encoding the alpha subunit of MTP is located on chromosome 2p24.1-23.3. Expand
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