Publications by authors named "Rob Ofman"

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Molecular and cellular consequences of mevalonate kinase deficiency.
Frouwkje A Politiek, Marjolein Turkenburg, Linda Henneman, Rob Ofman, Hans R Waterham

Biochim Biophys Acta Mol Basis Dis· June 2024

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Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype.
Frouwkje A Politiek, Marjolein Turkenburg, Rob Ofman, Hans R Waterham

Front Immunol· April 2024

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Identification of FDA-approved drugs that increase mevalonate kinase in hyper IgD syndrome.
Frouwkje A Politiek, Marjolein Turkenburg, Janet Koster, Rob Ofman, Hans R Waterham

J Inherit Metab Dis· March 2024

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

J Lipid Res· May 2023

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Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect.
Femke C C Klouwer, Kim D Falkenberg, Rob Ofman, Janet Koster, Démi van Gent

Front Cell Dev Biol· April 2021

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Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder.
Kevin Berendse, Maxim Boek, Marion Gijbels, Nicole N Van der Wel, Femke C Klouwer, Rob Ofman

Biochim Biophys Acta Mol Basis Dis· October 2019

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Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy.
Malu-Clair van de Beek, Rob Ofman, Inge Dijkstra, Frits Wijburg, Marc Engelen

Biochim Biophys Acta Mol Basis Dis· September 2017

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A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
Iliana A Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, Ruben Zapata Perez, Martin A Haagmans, Rob Ofman

Hum Mol Genet· July 2017

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C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man.
Malu-Clair van de Beek, Inge M E Dijkstra, Henk van Lenthe, Rob Ofman, Dalia Goldhaber-Pasillas

PLoS One· April 2017

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CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids.
Catherine E van Engen, Rob Ofman, Inge M E Dijkstra, Tessa Jacobs van Goethem, Eveline Verheij

Biochim Biophys Acta· October 2016

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Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
Martin J A Schackmann, Rob Ofman, Björn M van Geel, Inge M E Dijkstra, Klaartje van Engelen

Mol Genet Metab· June 2016

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Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.
Kathryn C Chatfield, Curtis R Coughlin, Marisa W Friederich, Renata C Gallagher, Jay R Hesselberth, Rob Ofman

Mitochondrion· March 2015

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Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis.
Martin J A Schackmann, Rob Ofman, Inge M E Dijkstra, Ronald J A Wanders, Stephan Kemp

Biochim Biophys Acta· February 2015

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Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation.
Olga Pougovkina, Heleen te Brinke, Rob Ofman, Arno G van Cruchten, Wim Kulik

Hum Mol Genet· July 2014

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Identification and characterization of Eci3, a murine kidney-specific Δ3,Δ2-enoyl-CoA isomerase.
Michel van Weeghel, Rob Ofman, Carmen A Argmann, Jos P N Ruiter, Nike Claessen

FASEB J· March 2014

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Comment on the paper "Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit".
Marc Engelen, Rob Ofman, Marcel Dijkgraaf, Bjorn van Geel, Marianne de Visser

Clin Neurol Neurosurg· November 2013

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The proteome of human liver peroxisomes: identification of five new peroxisomal constituents by a label-free quantitative proteomics survey.
Thomas Gronemeyer, Sebastian Wiese, Rob Ofman, Christian Bunse, Magdalena Pawlas

PLoS One· September 2013

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Intellectual disability and hemizygous GPD2 mutation.
Daniela Q C M Barge-Schaapveld, Rob Ofman, Alida C Knegt, Mariëlle Alders, Wolfgang Höhne

Am J Med Genet A· May 2013

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Bezafibrate for X-linked adrenoleukodystrophy.
Marc Engelen, Luc Tran, Rob Ofman, Josephine Brennecke, Ann B Moser

PLoS One· April 2013

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Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.
Marc Engelen, Martin J A Schackmann, Rob Ofman, Robert-Jan Sanders, Inge M E Dijkstra

J Inherit Metab Dis· November 2012

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Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation.
Paula B M Luís, Jos P Ruiter, Rob Ofman, Lodewijk Ijlst, Marco Moedas

Biochem Pharmacol· December 2011

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Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression.
Xuebin Zhang, Carine De Marcos Lousa, Nellie Schutte-Lensink, Rob Ofman, Ronald J Wanders

Biochem J· June 2011

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The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.
Rob Ofman, Inge M E Dijkstra, Carlo W T van Roermund, Nena Burger, Marjolein Turkenburg

EMBO Mol Med· March 2010

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Lovastatin in X-linked adrenoleukodystrophy.
Marc Engelen, Rob Ofman, Marcel G W Dijkgraaf, Michiel Hijzen, Lucinda A van der Wardt

N Engl J Med· January 2010

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Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry.
Robert-Jan Sanders, Rob Ofman, Conny Dekker, Stephan Kemp, Ronald J A Wanders

J Chromatogr B Analyt Technol Biomed Life Sci· February 2009

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