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

Molecular basis of d-bifunctional protein deficiency

Autor: Jerzy Adamski, Ronald J.A. Wanders, E. G. van Grunsven, Gabriele Möller

Publikováno v: Molecular and cellular endocrinology, 171(1-2), 61-70. Elsevier Ireland Ltd

Peroxisomal disorders appear with a frequency of 1:5000 in newborns. They are caused either by peroxisomal assembly defects or by deficiencies of single peroxisomal enzymes. The phenotypes vary widely: affected humans may die very early in life withi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a38c3675b5d7fe7e61e331db5814a822
https://doi.org/10.1016/s0303-7207(00)00388-9

Genetic heterogeneity in patients with a disorder of peroxisomal beta-oxidation: a complementation study based on pristanic acid beta-oxidation suggesting different enzyme defects

Autor: R. J. A. Wanders, E. G. van Grunsven

Publikováno v: Journal of inherited metabolic disease, 20, 437-440. Springer Netherlands
Journal of inherited metabolic disease, 20(3), 437-440. Springer Netherlands

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4849b90e4afc7de6817ac36743596c9
https://hdl.handle.net/11245/1.137819

Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases

Autor: R J, Wanders, P, Vreken, S, Ferdinandusse, G A, Jansen, H R, Waterham, C W, van Roermund, E G, Van Grunsven

Publikováno v: Biochemical Society transactions. 29(Pt 2)

Peroxisomes are subcellular organelles with an indispensable role in cellular metabolism. The importance of peroxisomes for humans is stressed by the existence of a group of genetic diseases in humans in which there is an impairment in one or more pe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0fc029e0ed20ca8a7d51780af6ff57d3
https://pubmed.ncbi.nlm.nih.gov/11356164

D-hydroxyacyl-CoA dehydrogenase deficiency. Identification of a new peroxisomal disorder with implications for other disorders of beta-oxidation

Autor: E G, van Grunsven, E, van Berkel, S, Denis, P A, Mooijer, R J, Wanders

Publikováno v: Advances in experimental medicine and biology. 466

The second and third steps of peroxisomal beta-oxidation are catalysed by two multifunctional enzymes: D-bifunctional protein and L-bifunctional protein. Here we show that fibroblasts of a patient described as being deficient in the 3-hydroxyacyl-CoA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4ed2fd53882b9a77b21a5a8f27e42ba1
https://pubmed.ncbi.nlm.nih.gov/10709664