ML Pras-Raves

Research output

Research output per year 2015 2016 2019 2020 2021 2022 2024 2024

• 31 Article
• 1 Comment/Letter to the editor

Research output per year

Research output per year

Search results

• 2024

  A conserved complex lipid signature marks human muscle aging and responds to short-term exercise

  Janssens, G. E., Molenaars, M., Herzog, K., Grevendonk, L., Remie, C. M. E., Vervaart, M. A. T., Elfrink, H. L., Wever, E. J. M., Schomakers, B. V., Denis, S. W., Waterham, H. R., Pras-Raves, M. L., van Weeghel, M., van Kampen, A. H. C., Tammaro, A., Butter, L. M., van der Rijt, S., Florquin, S., Jongejan, A., Moerland, P. D., & 4 othersHoeks, J., Schrauwen, P., Vaz, F. M. & Houtkooper, R. H., 2024, (E-pub ahead of print) In: Nature Aging.

  Research output: Contribution to journal › Article › Academic › peer-review

• CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

  van Karnebeek, C. D. M., Tarailo-Graovac, M., Leen, R., Meinsma, R., Correard, S., Jansen-Meijer, J., Prykhozhij, S. V., Pena, I. A., Ban, K., Schock, S., Saxena, V., Pras-Raves, M. L., Drögemöller, B. I., Grootemaat, A. E., van der Wel, N. N., Dobritzsch, D., Roseboom, W., Schomakers, B. V., Jaspers, Y. R. J., Zoetekouw, L., & 23 othersRoelofsen, J., Ferreira, C. R., van der Lee, R., Ross, C. J., Kochan, J., McIntyre, R. L., van Klinken, J. B., van Weeghel, M., Kramer, G., Weschke, B., Labrune, P., Willemsen, M. A., Riva, D., Garavaglia, B., Moeschler, J. B., Filiano, J. J., Ekker, M., Berman, J. N., Dyment, D., Vaz, F. M., Wassermann, W. W., Houtkooper, R. H. & van Kuilenburg, A. B. P., 1 Jun 2024, In: Genetics in medicine. 26, 6, 101104.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

  van Karnebeek, C. D. M., Tarailo-Graovac, M., Leen, R., Meinsma, R., Correard, S., Jansen-Meijer, J., Prykhozhij, S. V., Pena, I. A., Ban, K., Schock, S., Saxena, V., Pras-Raves, M. L., Drögemöller, B. I., Grootemaat, A. E., van der Wel, N. N., Dobritzsch, D., Roseboom, W., Schomakers, B. V., Jaspers, Y. R. J., Zoetekouw, L., & 23 othersRoelofsen, J., Ferreira, C. R., van der Lee, R., Ross, C. J., Kochan, J., McIntyre, R. L., van Klinken, J. B., van Weeghel, M., Kramer, G., Weschke, B., Labrune, P., Willemsen, M. A., Riva, D., Garavaglia, B., Moeschler, J. B., Filiano, J. J., Ekker, M., Berman, J. N., Dyment, D., Vaz, F. M., Wassermann, W. W., Houtkooper, R. H. & van Kuilenburg, A. B. P., 1 Jun 2024, In: Genetics in medicine. 26, 6, 101104.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics

  Vaz, F. M., Staps, P., van Klinken, J. B., van Lenthe, H., Vervaart, M., Wanders, R. J. A., Pras-Raves, M. L., van Weeghel, M., Salomons, G. S., Ferdinandusse, S., Wevers, R. A. & Willemsen, M. A. A. P., 1 Mar 2024, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1869, 2, p. 159447 159447.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• The shifting lipidomic landscape of blood monocytes and neutrophils during pneumonia

  Schuurman, A. R., Chouchane, O., Butler, J. M., Peters-Sengers, H., Joosten, S., Brands, X., Haak, B. W., Otto, N. A., Uhel, F., Klarenbeek, A., van Linge, C. C. A., van Kampen, A., Pras-Raves, M., van Weeghel, M., van Eijk, M., Ferraz, M. J., Faber, D. R., de Vos, A., Scicluna, B. P., Vaz, F. M., & 2 othersWiersinga, W. J. & van der Poll, T., 2024, In: JCI Insight. 9, 4, e164400.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
• 2023

  Alterations in ether lipid metabolism and the consequences for the mouse lipidome

  Lackner, K., Sailer, S., van Klinken, J-B., Wever, E., Pras-Raves, M. L., Dane, A. D., Honsho, M., Abe, Y., Keller, M. A., Golderer, G., Werner-Felmayer, G., Fujiki, Y., Vaz, F. M., Werner, E. R. & Watschinger, K., 1 Apr 2023, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1868, 4, p. 159285 159285.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  2 Citations (Scopus)

• A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases

  Willems, A. P., van der Ham, M., Schiebergen-Bronkhorst, B. G. M., van Aalderen, M., de Barse, M. M. J., de Gruyter, F. E., van Hoek, I. N., Pras-Raves, M. L., de Sain-van der Velden, M. G. M., Prinsen, H. C. M. T., Verhoeven-Duif, N. M. & Jans, J. J. M., 2023, In: Frontiers in Molecular Biosciences. 10, 1283083.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
• 2022

  Adaptations of the 3T3-L1 adipocyte lipidome to defective ether lipid catabolism upon Agmo knockdown

  Sailer, S., Lackner, K., Pras-Raves, M. L., Wever, E. J. M., van Klinken, J. B., Dane, A. D., Geley, S., Koch, J., Golderer, G., Werner-Felmayer, G., Keller, M. A., Zwerschke, W., Vaz, F. M., Werner, E. R. & Watschinger, K., 1 Jun 2022, In: Journal of Lipid Research. 63, 6, 100222.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways

  Hermans, M. E., van Weeghel, M., Vaz, F. M., Ferdinandusse, S., Hollak, C. E. M., Huidekoper, H. H., Janssen, M. C. H., van Kuilenburg, A. B. P., Pras-Raves, M. L., Wamelink, M. M. C., Wanders, R. J. A., Welsink-Karssies, M. M. & Bosch, A. M., Nov 2022, In: Journal of Inherited Metabolic Disease. 45, 6, p. 1094-1105 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  7 Citations (Scopus)

• Time-restricted feeding during the inactive phase abolishes the daily rhythm in mitochondrial respiration in rat skeletal muscle

  de Goede, P., Wüst, R. C. I., Schomakers, B. V., Denis, S., Vaz, F. M., Pras-Raves, M. L., van Weeghel, M., Yi, C-X., Kalsbeek, A. & Houtkooper, R. H., 1 Feb 2022, In: FASEB Journal. 36, 2, p. 1-17 17 p., e22133.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  14 Citations (Scopus)
• 2021

  Aging selectively dampens oscillation of lipid abundance in white and brown adipose tissue

  Held, N. M., Buijink, M. R., Elfrink, H. L., Kooijman, S., Janssens, G. E., Luyf, A. C. M., Pras-Raves, M. L., Vaz, F. M., Michel, S., Houtkooper, R. H. & van Weeghel, M., 1 Dec 2021, In: Scientific reports. 11, 1, p. 5932 5932.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  15 Citations (Scopus)

• An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

  Undiagnosed Diseases Network, Apr 2021, In: Genetics in medicine. 23, 4, p. 740-750 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  25 Citations (Scopus)

• Circadian misalignment disturbs the skeletal muscle lipidome in healthy young men

  Harmsen, J-F., van Polanen, N., van Weeghel, M., Wefers, J., Hoeks, J., Vaz, F. M., Pras-Raves, M. L., van Kampen, A. H. C., Schaart, G., van Moorsel, D., Hansen, J., Hesselink, M. K. C., Houtkooper, R. H. & Schrauwen, P., 1 Jun 2021, In: FASEB Journal. 35, 6, p. e21611 e21611.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  7 Citations (Scopus)

• Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)

  Undiagnosed Diseases Network, 2021, (E-pub ahead of print) In: Genetics in medicine.

  Research output: Contribution to journal › Comment/Letter to the editor › Academic

  Open Access
  1 Citation (Scopus)

• Metabolomics and lipidomics in Caenorhabditis elegans using a single-sample preparation

  Molenaars, M., Schomakers, B. V., Elfrink, H. L., Gao, A. W., Vervaart, M. A. T., Pras-Raves, M. L., Luyf, A. C., Smith, R. L., Sterken, M. G., Kammenga, J. E., van Kampen, A. H. C., Janssens, G. E., Vaz, F. M., van Weeghel, M. & Houtkooper, R. H., 1 Apr 2021, In: Disease models & mechanisms. 14, 4, dmm.047746.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  25 Citations (Scopus)
• 2020

  Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis

  Darwisch, W., von Spangenberg, M., Lehmann, J., Singin, Ö., Deubert, G., Kühl, S., Roos, J., Horstmann, H., Körber, C., Hoppe, S., Zheng, H., Kuner, T., Pras-Raves, M. L., van Kampen, A. H. C., Waterham, H. R., Schwarz, K. V., Okun, J. R. G., Schultz, C., Vaz, F. M. & Islinger, M., 1 Dec 2020, In: Communications Biology. 3, 1, 713.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  17 Citations (Scopus)

• Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome

  Staps, P., Rizzo, W. B., Vaz, F. M., Bugiani, M., Giera, M., Heijs, B., van Kampen, A. H. C., Pras-Raves, M. L., Breur, M., Groen, A., Ferdinandusse, S., van der Graaf, M., Van Goethem, G., Lammens, M., Wevers, R. A. & Willemsen, M. A. A. P., Nov 2020, In: Journal of Inherited Metabolic Disease. 43, 6, p. 1265-1278 14 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  23 Citations (Scopus)

• Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity

  Rumping, L., Pras-Raves, M. L., Gerrits, J., Tang, Y. F., Willemsen, M. A., Houwen, R. H. J., van Haaften, G., van Hasselt, P. M., Verhoeven-Duif, N. M. & Jans, J. J. M., Mar 2020, In: BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS. 1864, 3, 129484.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  3 Citations (Scopus)

• MetaboShiny: interactive analysis and metabolite annotation of mass spectrometry-based metabolomics data

  Wolthuis, J. C., Magnusdottir, S., Pras-Raves, M., Moshiri, M., Jans, J. J. M., Burgering, B., van Mil, S. & de Ridder, J., 1 Sept 2020, In: Metabolomics. 16, 9, 99.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  13 Citations (Scopus)

• Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots

  Knottnerus, S. J. G., Pras-Raves, M. L., van der Ham, M., Ferdinandusse, S., Houtkooper, R. H., Schielen, P. C. J. I., Visser, G., Wijburg, F. A. & de Sain-van der Velden, M. G. M., 1 Jun 2020, In: Biochimica et Biophysica Acta-Molecular Basis of Disease. 1866, 6, 165725.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  12 Citations (Scopus)
• 2019

  Aqueous Humor Analysis Identifies Higher Branched Chain Amino Acid Metabolism as a Marker for Human Leukocyte Antigen-B27 Acute Anterior Uveitis and Disease Activity

  Verhagen, F. H., Stigter, E. C. A., Pras-Raves, M. L., Burgering, B. M. T., Imhof, S. M., Radstake, T. R. D. J., de Boer, J. H. & Kuiper, J. J. W., 2019, In: American Journal of Ophthalmology. 198, p. 97-110

  Research output: Contribution to journal › Article › Academic › peer-review
  12 Citations (Scopus)

• Direct infusion based metabolomics identifies metabolic disease in patients’ dried blood spots and plasma

  Haijes, H. A., Willemsen, M., van der Ham, M., Gerrits, J., Pras-Raves, M. L., Prinsen, H. C. M. T., van Hasselt, P. M., de Sain-van der Velden, M. G. M., Verhoeven-Duif, N. M. & Jans, J. J. M., 2019, In: Metabolites. 9, 1

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  44 Citations (Scopus)

• Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

  Bleeker, J. C., Kok, I. L., Ferdinandusse, S., van der Pol, W. L., Cuppen, I., Bosch, A. M., Langeveld, M., Derks, T. G. J., Williams, M., de Vries, M., Mulder, M. F., Gozalbo, E. R., de Sain-van der Velden, M. G. M., Rennings, A. J., Schielen, P. J. C. I., Dekkers, E., Houtkooper, R. H., Waterham, H. R., Pras-Raves, M. L., Wanders, R. J. A., & 4 othersvan Hasselt, P. M., Schoenmakers, M., Wijburg, F. A. & Visser, G., 1 May 2019, In: Journal of Inherited Metabolic Disease. 42, 3, p. 414-423 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  33 Citations (Scopus)

• Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

  Deciphering Developmental Disorders Study, 1 Nov 2019, In: Brain. 142, 11, p. 3382-3397 16 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  73 Citations (Scopus)
• 2018

  Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics

  Herzog, K., Pras-Raves, M. L., Ferdinandusse, S., Vervaart, M. A. T., Luyf, A. C. M., van Kampen, A. H. C., Wanders, R. J. A., Waterham, H. R. & Vaz, F. M., May 2018, In: Journal of Inherited Metabolic Disease. 41, 3, p. 479-487 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  45 Citations (Scopus)

• Plasma lipidomics as a diagnostic tool for peroxisomal disorders

  Herzog, K., Pras-Raves, M. L., Ferdinandusse, S., Vervaart, M. A. T., Luyf, A. C. M., van Kampen, A. H. C., Wanders, R. J. A., Waterham, H. R. & Vaz, F. M., May 2018, In: Journal of Inherited Metabolic Disease. 41, 3, p. 489-498

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  19 Citations (Scopus)
• 2017

  A sensitive mass spectrometry platform identifies metabolic changes of life history traits in C-elegans

  Gao, A. W., Chatzispyrou, I. A., Kamble, R., Liu, Y. J., Herzog, K., Smith, R. L., van Lenthe, H., Vervaart, M. A. T., van Cruchten, A., Luyf, A. C., van Kampen, A., Pras-Raves, M. L., Vaz, F. M. & Houtkooper, R. H., 2017, In: Scientific reports. 7, 1, p. 2408

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  50 Citations (Scopus)
• 2016

  Betulinic acid induces a novel cell death pathway that depends on cardiolipin modification

  Potze, L., Franco, S., Grandela, C., Pras-Raves, M. L., Picavet, D. I., van Veen, H. A., van Lenthe, H., Mullauer, F. B., van der Wel, N. N., Luyf, A., Kemp, S., Everts, V., Kessler, J. H., Vaz, F. M., Van Kampen, A. H. C. & Medema, J. P., 28 Jan 2016, In: Oncogene. 35, 4, p. 427-437 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  57 Citations (Scopus)

• Defining functional classes of Barth syndrome mutation in humans

  Lu, Y-W., Galbraith, L., Herndon, J. D., Lu, Y-L., Pras-Raves, M., Vervaart, M., van Kampen, A., Luyf, A., Koehler, C. M., McCaffery, J. M., Gottlieb, E., Vaz, F. M. & Claypool, S. M., 2016, In: Human Molecular Genetics. 25, 9, p. 1754-1770

  Research output: Contribution to journal › Article › Academic › peer-review
  48 Citations (Scopus)

• Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios

  Herzog, K., Pras-Raves, M. L., Vervaart, M. A. T., Luyf, A. C. M., van Kampen, A. H. C., Wanders, R. J. A., Waterham, H. R. & Vaz, F. M., Aug 2016, In: Journal of Lipid Research. 57, 8, p. 1447-1454

  Research output: Contribution to journal › Article › Academic › peer-review
  55 Citations (Scopus)
• 2015

  CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

  Wortmann, S. B., Ziętkiewicz, S., Kousi, M., Szklarczyk, R., Haack, T. B., Gersting, S. W., Muntau, A. C., Rakovic, A., Renkema, G. H., Rodenburg, R. J., Strom, T. M., Meitinger, T., Rubio-Gozalbo, M. E., Chrusciel, E., Distelmaier, F., Golzio, C., Jansen, J. H., van Karnebeek, C., Lillquist, Y., Lücke, T., & 15 othersÕunap, K., Zordania, R., Yaplito-Lee, J., van Bokhoven, H., Spelbrink, J. N., Vaz, F. M., Pras-Raves, M., Ploski, R., Pronicka, E., Klein, C., Willemsen, M. A. A. P., de Brouwer, A. P. M., Prokisch, H., Katsanis, N. & Wevers, R. A., 2015, In: American journal of human genetics. 96, 2, p. 245-257

  Research output: Contribution to journal › Article › Academic › peer-review
  95 Citations (Scopus)

• Principles and practice of lipidomics

  Vaz, F. M., Pras-Raves, M., Bootsma, A. H. & van Kampen, A. H. C., 2015, In: Journal of Inherited Metabolic Disease. 38, 1, p. 41-52

  Research output: Contribution to journal › Article › Academic › peer-review
  42 Citations (Scopus)