Search Results - "Ofman, Rob"

The origin of long-chain fatty acids required for de novo ether lipid/plasmalogen synthesis by Chornyi, Serhii, Ofman, Rob, Koster, Janet, Waterham, Hans R.

“…Peroxisomes are single-membrane bounded organelles that in humans play a dual role in lipid metabolism, including the degradation of very long-chain fatty…”
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Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype by Politiek, Frouwkje A, Turkenburg, Marjolein, Ofman, Rob, Waterham, Hans R

“…Bi-allelic pathogenic variants in the gene, which encodes mevalonate kinase (MK), an essential enzyme in isoprenoid biosynthesis, cause the autoinflammatory…”
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Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation by Pougovkina, Olga, te Brinke, Heleen, Ofman, Rob, van Cruchten, Arno G, Kulik, Wim, Wanders, Ronald J A, Houten, Sander M, de Boer, Vincent C J

“…Mitochondria integrate metabolic networks for maintaining bioenergetic requirements. Deregulation of mitochondrial metabolic networks can lead to mitochondrial…”
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The proteome of human liver peroxisomes: identification of five new peroxisomal constituents by a label-free quantitative proteomics survey by Gronemeyer, Thomas, Wiese, Sebastian, Ofman, Rob, Bunse, Christian, Pawlas, Magdalena, Hayen, Heiko, Eisenacher, Martin, Stephan, Christian, Meyer, Helmut E, Waterham, Hans R, Erdmann, Ralf, Wanders, Ronald J, Warscheid, Bettina

“…The peroxisome is a key organelle of low abundance that fulfils various functions essential for human cell metabolism. Severe genetic diseases in humans are…”
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C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man by van de Beek, Malu-Clair, Dijkstra, Inge M E, van Lenthe, Henk, Ofman, Rob, Goldhaber-Pasillas, Dalia, Schauer, Nicolas, Schackmann, Martin, Engelen-Lee, Joo-Yeon, Vaz, Frédéric M, Kulik, Wim, Wanders, Ronald J A, Engelen, Marc, Kemp, Stephan

“…X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative disease, is caused by mutations in ABCD1 and characterized by very-long-chain fatty acids…”
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Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis by Schackmann, Martin J.A., Ofman, Rob, Dijkstra, Inge M.E., Wanders, Ronald J.A., Kemp, Stephan

“…X-linked adrenoleukodystrophy (X-ALD) is a neurometabolic disease that is caused by mutations in the ABCD1 gene. ABCD1 protein deficiency impairs peroxisomal…”
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The role of ELOVL1 in very long‐chain fatty acid homeostasis and X‐linked adrenoleukodystrophy by Ofman, Rob, Dijkstra, Inge M. E., van Roermund, Carlo W. T., Burger, Nena, Turkenburg, Marjolein, van Cruchten, Arno, van Engen, Catherine E., Wanders, Ronald J. A., Kemp, Stephan

“…X‐linked adrenoleukodystrophy (X‐ALD) is caused by mutations in the ABCD1 gene encoding the peroxisomal ABC transporter adrenoleukodystrophy protein (ALDP)…”
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Proteomics Characterization of Mouse Kidney Peroxisomes by Tandem Mass Spectrometry and Protein Correlation Profiling by Wiese, Sebastian, Gronemeyer, Thomas, Ofman, Rob, Kunze, Markus, Grou, Cláudia P., Almeida, José A., Eisenacher, Martin, Stephan, Christian, Hayen, Heiko, Schollenberger, Lukas, Korosec, Thomas, Waterham, Hans R., Schliebs, Wolfgang, Erdmann, Ralf, Berger, Johannes, Meyer, Helmut E., Just, Wilhelm, Azevedo, Jorge E., Wanders, Ronald J.A., Warscheid, Bettina, Grou, Cláudia P.

“…The peroxisome represents a ubiquitous single membrane-bound key organelle that executes various metabolic pathways such as fatty acid degradation by α- and…”
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Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing by Chatfield, Kathryn C, Coughlin, 2nd, Curtis R, Friederich, Marisa W, Gallagher, Renata C, Hesselberth, Jay R, Lovell, Mark A, Ofman, Rob, Swanson, Michael A, Thomas, Janet A, Wanders, Ronald J A, Wartchow, Eric P, Van Hove, Johan L K

“…Muscle, heart and liver were analyzed in a male subject who succumbed to HSD10 disease. Respiratory chain enzyme analysis and BN-PAGE showed reduced activities…”
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A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome by Chatzispyrou, Iliana A., Alders, Marielle, Guerrero-Castillo, Sergio, Zapata Perez, Ruben, Haagmans, Martin A., Mouchiroud, Laurent, Koster, Janet, Ofman, Rob, Baas, Frank, Waterham, Hans R., Spelbrink, Johannes N., Auwerx, Johan, Mannens, Marcel M., Houtkooper, Riekelt H., Plomp, Astrid S.

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CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids by van Engen, Catherine E., Ofman, Rob, Dijkstra, Inge M.E., van Goethem, Tessa Jacobs, Verheij, Eveline, Varin, Jennifer, Vidaud, Michel, Wanders, Ronald J.A., Aubourg, Patrick, Kemp, Stephan, Barbier, Mathieu

“…X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder caused by the accumulation of very long-chain fatty acids (VLCFA) due to mutations…”
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Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect by Klouwer, Femke C C, Falkenberg, Kim D, Ofman, Rob, Koster, Janet, van Gent, Démi, Ferdinandusse, Sacha, Wanders, Ronald J A, Waterham, Hans R

“…Peroxisome biogenesis disorders within the Zellweger spectrum (PBD-ZSDs) are most frequently associated with the c.2528G>A (p.G843D) mutation in the gene…”
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Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression by Zhang, Xuebin, De Marcos Lousa, Carine, Schutte-Lensink, Nellie, Ofman, Rob, Wanders, Ronald J, Baldwin, Stephen A, Baker, Alison, Kemp, Stephan, Theodoulou, Frederica L

“…ABC (ATP-binding cassette) subfamily D transporters are found in all eukaryotic kingdoms and are known to play essential roles in mammals and plants; however,…”
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Lovastatin in X-Linked Adrenoleukodystrophy by Engelen, Marc, van Geel, Bjorn M, de Visser, Marianne, Ofman, Rob, Wanders, Ronald J.A, Dijkgraaf, Marcel G.W, Poll-The, Bwee Tien, Hijzen, Michiel, Kemp, Stephan, van der Wardt, Lucinda A

“…To the Editor: As reported previously in the Journal, lovastatin lowers levels of very-long-chain fatty acids in plasma in patients with X-linked…”
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Bezafibrate for X-linked adrenoleukodystrophy by Engelen, Marc, Tran, Luc, Ofman, Rob, Brennecke, Josephine, Moser, Ann B, Dijkstra, Inge M E, Wanders, Ronald J A, Poll-The, Bwee Tien, Kemp, Stephan

“…X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene and is characterized by impaired beta-oxidation of very-long-chain fatty acids…”
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Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation by Engelen, Marc, Schackmann, Martin J. A., Ofman, Rob, Sanders, Robert-Jan, Dijkstra, Inge M. E., Houten, Sander M., Fourcade, Stéphane, Pujol, Aurora, Poll-The, Bwee Tien, Wanders, Ronald J. A., Kemp, Stephan

“…X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene encoding ALDP, an ATP-binding-cassette (ABC) transporter located in the…”
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Comparative profiling of the peroxisomal proteome of wildtype and Pex7 knockout mice by quantitative mass spectrometry by Wiese, Sebastian, Gronemeyer, Thomas, Brites, Pedro, Ofman, Rob, Bunse, Christian, Renz, Christian, Meyer, Helmut E., Wanders, Ronald J.A., Warscheid, Bettina

“…[Display omitted] ► MS-based protein profiling across several density gradients enabled to comprehensively characterize peroxisomal proteomes of Pex7−/− and WT…”
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Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration by Loupatty, Ference J., Clayton, Peter T., Ruiter, Jos P.N., Ofman, Rob, IJlst, Lodewijk, Brown, Garry K., Thorburn, David R., Harris, Robert A., Duran, Marinus, DeSousa, Carlos, Krywawych, Steve, Heales, Simon J.R., Wanders, Ronald J.A.

“…Only a single patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency has been described in the literature, and the molecular basis of this inborn error of…”
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Intellectual Disability and Hemizygous GPD2 Mutation by Barge-Schaapveld, Daniela Q.C.M., Ofman, Rob, Knegt, Alida C., Alders, Mariëlle, Höhne, Wolfgang, Kemp, Stephan, Hennekam, Raoul C.M.

“…We report on a 25‐year‐old female with intellectual disability, mildly unusual face, and a pervasive developmental disorder, in whom routine aCGH showed a 298…”
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Nudix Hydrolase 7 is an Acyl-CoA Diphosphatase Involved in Regulating Peroxisomal Coenzyme A Homeostasis by Reilly, Sarah-Jayne, Tillander, Veronika, Ofman, Rob, Alexson, Stefan E.H, Hunt, Mary C

“…Coenzyme A (CoASH) is an obligate cofactor for lipids undergoing β-oxidation in peroxisomes. Although the peroxisomal membrane appears to be impermeable to…”
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