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Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.
TLDR
A new human fibroblast cell line is described in which alkyl-dihydroxyacetonephosphate synthase was found to be deficient both at the level of enzyme activity and enzyme protein, and activity was strongly reduced to a level comparable to the activities measured in fibroblasts from patients affected by the classical form of rhizomelic chondrodysplasia punctata. Expand
Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.
TLDR
The first delineation of the molecular basis of hepatic CPT I deficiency in a new case is reported, indicating that the D454G mutation is the disease-causing mutation. Expand
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
TLDR
It is concluded that, on the basis of the predicted effect of the mutations on protein structure, a genotype-phenotype correlation exists for DBP deficiency and the amount of residual DBP activity correlates with the severity of the phenotype. Expand
Heterozygosity for the Common LCHAD Mutation (1528G>C) Is Not a Major Cause of HELLP Syndrome and the Prevalence of the Mutation in the Dutch Population Is Low
TLDR
The frequency of the common LCHAD mutation in the Dutch population was found to be low, consistent with the observed low incidence of the disorder, and heterozygosity for the common mutation is not a major cause of the HELLP syndrome. Expand
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.
TLDR
Mutations identified in the DHCR7 gene of 13 children diagnosed with SLOS are reported by clinical and biochemical criteria and include three novel missense mutations and one novel splice acceptor site mutation (IVS8--1 G > T). Expand
Molecular cloning and expression of human L-pipecolate oxidase.
TLDR
The human L-pipecolate oxidase cDNA is cloned which codes for a protein of 390 amino acids and contains an ADP-betaalphabeta-binding fold compatible with its identity as a flavoprotein and constitutes a typical Type I peroxisomal-targeting signal (PTS I). Expand
Alkyl-Dihydroxyacetonephosphate Synthase
TLDR
Levels of alkyl-dihydroxyacetonephosphate synthase were found in fibroblasts of Zellweger syndrome and rhizomelic chondrodysplasia punctata patients, indicating that the enzyme is not stable in the cytoplasm as a result of defective import into peroxisomes. Expand
Functional analysis of mutant human carnitine acylcarnitine translocases in yeast.
TLDR
Functional studies on the mutant CACT proteins from a severe and a mild patient with CACT deficiency are reported and significant residual activity for CACT(+21aa) is found, while the CACT (G81R) was inactive. Expand
Identification of three patients with a very mild form of Smith‐Lemli‐Opitz syndrome
TLDR
The findings emphasize the importance of using a sensitive method for measuring precursors of cholesterol in combination with mutation analysis to analyze patients with only minimal clinical SLOS‐like signs. Expand
A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency
TLDR
It is shown that the codon suppresses translation from the wild‐type ATG of SLC22A5, resulting in reduced OCTN2 protein levels and concomitantly lower transport activity, which may explain other reported cases with an incomplete genetic diagnosis. Expand
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