Works by Ofman, Rob

Results: 17

Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency).

Published in:

2000

By:

Sztriha, László;
Al-Gazali, Lihadh I;
Wanders, Ronald J A;
Ofman, Rob;
Nork, Michael;
Lestringant, Gilles G;
Sztriha, L;
Al-Gazali, L I;
Wanders, R J;
Ofman, R;
Nork, M;
Lestringant, G G

Publication type:

journal article

Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype.

Published in:

Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1379220

By:

Politiek, Frouwkje A.;
Turkenburg, Marjolein;
Ofman, Rob;
Waterham, Hans R.

Publication type:

Article

The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey.

Published in:

PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057395

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

Publication type:

Article

Bezafibrate for X-Linked Adrenoleukodystrophy.

Published in:

PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041013

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

Publication type:

Article

Identification and characterization of Eci3, a murine kidney-specific Δ³, Δ²-enoyl-CoA isomerase.

Published in:

FASEB Journal, 2014, v. 28, n. 3, p. 1365, doi. 10.1096/fj.13-240416

By:

van Weeghel, Michel;
Ofman, Rob;
Argmann, Carmen A.;
Ruiter, Jos P. N.;
Claessen, Nike;
Oussoren, Saskia V.;
Wanders, Ronald J. A.;
Aten, Jan;
Houten, Sander M.

Publication type:

Article

Characterization of the human ω-oxidation pathway for ω-hydroxy-very-long-chain fatty acids.

Published in:

FASEB Journal, 2008, v. 22, n. 6, p. 2064, doi. 10.1096/fj.07-099150

By:

Sanders, Robert-Jan;
Ofman, Rob;
Dacremont, Georges;
Wanders, Ronald J. A.;
Kemp, Stephan

Publication type:

Article

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2541, doi. 10.1093/hmg/ddx152

By:

Chatzispyrou, Iliana A.;
Alders, Marielle;
Guerrero-Castillo, Sergio;
Perez, Ruben Zapata;
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.

Publication type:

Article

Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3513, doi. 10.1093/hmg/ddu059

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.

Publication type:

Article

Intellectual Disability and Hemizygous GPD 2 Mutation.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1044, doi. 10.1002/ajmg.a.35873

By:

Barge‐Schaapveld, Daniela Q.C.M.;
Ofman, Rob;
Knegt, Alida C.;
Alders, Mariëlle;
Höhne, Wolfgang;
Kemp, Stephan;
Hennekam, Raoul C.M.

Publication type:

Article

Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 8, p. 1195, doi. 10.1093/hmg/9.8.1195

By:

Jansen, Gerbert A.;
Hogenhout, Eveline M.;
Ferdinandusse, Sacha;
Waterham, Hans R.;
Ofman, Rob;
Jakobs, Cornelis;
Skjeldal, Ola H.;
Wanders, Ronald J.A.

Publication type:

Article

Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 847, doi. 10.1093/hmg/7.5.847

By:

Ofman, Rob;
Hettema, Ewald H.;
Hogenhout, Eveline M.;
Caruso, Ubaldo;
Muijsers, Anton O.;
Wanders, Ronald J.A.

Publication type:

Article

Identification of FDA‐approved drugs that increase mevalonate kinase in hyper IgD syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 302, doi. 10.1002/jimd.12698

By:

Politiek, Frouwkje A.;
Turkenburg, Marjolein;
Koster, Janet;
Ofman, Rob;
Waterham, Hans R.

Publication type:

Article

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1137, doi. 10.1007/s10545-012-9471-4

By:

Engelen, Marc;
Schackmann, Martin;
Ofman, Rob;
Sanders, Robert-Jan;
Dijkstra, Inge;
Houten, Sander;
Fourcade, Stéphane;
Pujol, Aurora;
Poll-The, Bwee;
Wanders, Ronald;
Kemp, Stephan

Publication type:

Article

The Nudix Hydrolase 7 is an Acyl-CoA Diphosphatase Involved in Regulating Peroxisomal Coenzyme A Homeostasis.

Published in:

Journal of Biochemistry, 2008, v. 144, n. 5, p. 655, doi. 10.1093/jb/mvn114

By:

Reilly, Sarah-Jayne;
Tillander, Veronika;
Ofman, Rob;
Alexson, Stefan E. H.;
Hunt, Mary C.

Publication type:

Article

The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.

Published in:

EMBO Molecular Medicine, 2010, v. 2, n. 3, p. 90, doi. 10.1002/emmm.201000061

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

Publication type:

Article

C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man.

Published in:

PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0154597

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

Publication type:

Article

Submitochondrial localization of 6- N-trimethyllysine dioxygenase − implications for carnitine biosynthesis.

Published in:

FEBS Journal, 2007, v. 274, n. 22, p. 5845, doi. 10.1111/j.1742-4658.2007.06108.x

By:

van Vlies, Naomi;
Ofman, Rob;
Wanders, Ronald J. A.;
Vaz, Frédéric M.

Publication type:

Article