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Akademický článek

Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities

Autor: E.C.J.M. de Vet, L. Ijlst, W. Oostheim, C. Dekker, H.W. Moser, H. van den Bosch, R.J.A. Wanders

Publikováno v: Journal of Lipid Research, Vol 40, Iss 11, Pp 1998-2003 (1999)

Recent studies have indicated that two peroxisomal enzymes involved in ether lipid synthesis, i.e., dihydroxyacetonephosphate acyltransferase and alkyl-dihydroxyacetonephosphate synthase, are directed to peroxisomes by different targeting signals, i.

Externí odkaz: https://doaj.org/article/774af01b9e494c7493b837eb347a3cd5

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A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency

Autor: Janet Haasjes, Frédéric M. Vaz, Sacha Ferdinandusse, Merel S. Ebberink, Ronald J.A. Wanders, Jos P.N. Ruiter, W. Oostheim, Henk van Lenthe, Hans R. Waterham, Heleen te Brinke, Lodewijk IJlst

Publikováno v: Human Mutation
Human Mutation, 40(10), 1899-1904. Wiley-Liss Inc.
Human mutation, 40(10), 1899-1904. Wiley-Liss Inc.

Primary carnitine deficiency is caused by a defect in the active cellular uptake of carnitine by Na+‐dependent organic cation transporter novel 2 (OCTN2). Genetic diagnostic yield for this metabolic disorder has been relatively low, suggesting that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fcf2567494cda2778e173cc44b21149
http://europepmc.org/articles/PMC6790604

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Mutational Spectrum of d-Bifunctional Protein Deficiency and Structure-Based Genotype-Phenotype Analysis

Autor: Hans R. Waterham, Mari S. Ylianttila, M. Kristian Koski, Tuomo Glumoff, Sacha Ferdinandusse, J. Gloerich, Ronald J.A. Wanders, J. Kalervo Hiltunen, W. Oostheim

Publikováno v: American journal of human genetics, 78(1), 112-124. Cell Press

d-bifunctional protein (DBP) deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. The clinical presentation of DBP deficiency is usually very severe, but a few patients with a relatively mild presentation have been i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf805d078ecab4059b318e9d4dcf29ff
https://doi.org/10.1086/498880

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Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein

Autor: R. J. A. Wanders, S. Goldfischer, Lodewijk IJlst, Simone Denis, C. W. T. van Roermund, E. G. van Grunsven, Sacha Ferdinandusse, Hans R. Waterham, Eveline M. Hogenhout, W. Oostheim

Publikováno v: American Journal of Human Genetics, 70, 1589-1593. Cell Press
American journal of human genetics, 70(6), 1589-1593. Cell Press

In this report, we reinvestigate the only patient ever reported with a deficiency of peroxisomal 3-ketoacyl-CoA thiolase (THIO). At the time when they were described, the abnormalities in this patient, which included accumulation of very-long-chain f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3748a95ef6d60679612c384fa74a6ed
https://doi.org/10.1086/340970

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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

Autor: Lodewijk IJlst, Frits A. Wijburg, R. J. A. Wanders, M. A. Van Werkhoven, Hugo S. A. Heymans, M. E. J. Den Boer, M.G. van Pampus, W. Oostheim

Publikováno v: Pediatric research, 48(2), 151-154. Lippincott Williams and Wilkins

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder of mitochondrial fatty acid oxidation. Apart from life-threatening metabolic derangement with hypoketotic hypoglycemia, patients often show liver disease

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76bba2753979d5a50cb6262105b3da96
https://doi.org/10.1203/00006450-200008000-00006

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Molecular Cloning and Expression of Human L-Pipecolate Oxidase

Autor: W Oostheim, Lodewijk IJlst, R. J. A. Wanders, I de Kromme

Publikováno v: Biochemical and biophysical research communications, 270(3), 1101-1105. Academic Press Inc.

In higher eukaryotes L-lysine can be degraded via two distinct routes including the saccharopine pathway and the L-pipecolate pathway. The saccharopine pathway is the primary route of degradation of lysine in most tissues except the brain in which th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2a052abae50dff09593e0c9e58947b5
https://doi.org/10.1006/bbrc.2000.2575

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Alkyl-Dihydroxyacetonephosphate Synthase

Autor: W. Oostheim, E. de Vet, H. van den Bosch, Lodewijk IJlst, R. J. A. Wanders

Publikováno v: Journal of Biological Chemistry. 273:10296-10301

Peroxisomes play an indispensible role in ether lipid biosynthesis as evidenced by the deficiency of ether phospholipids in fibroblasts and tissues from patients suffering from a number of peroxisomal disorders. Alkyl-dihydroxyacetonephosphate syntha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::907bfbe9af8dbb4d7f0552ec025f75a2
https://doi.org/10.1074/jbc.273.17.10296

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Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome

Autor: Raoul C.M. Hennekam, Ronald J.A. Wanders, G. J. Romeijn, W. Oostheim, Hans R. Waterham

Publikováno v: Journal of medical genetics, 37(5), 387-389. BMJ Publishing Group

Editor—Smith-Lemli-Opitz (SLO) syndrome (MIM 270400) is an autosomal recessive disorder characterised by a wide spectrum of developmental abnormalities including craniofacial malformations, growth and mental retardation, and multiple congenital ano

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c680402e085c773475a61a4c7d2769c
https://doi.org/10.1136/jmg.37.5.387

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Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations

Autor: Lodewijk IJlst, R. J. A. Wanders, Jos P.N. Ruiter, W. Oostheim

Publikováno v: Journal of inherited metabolic disease, 20(3), 420-422. Springer Netherlands
Journal of inherited metabolic disease, 20, 420-422. Springer Netherlands

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) is catalysed by the mitochondrial trifunctional protein (MTP), which also contains enoyl-CoA hydratase and 3-ketothiolase activities (Carpenter et al 1992; Uchida et al 1992). The cDNAs encoding the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f60d9b35ad1877fa5f07783117b4fc2f
https://doi.org/10.1023/a:1005310903004

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