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ML Pras-Raves

20182023

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  • 9 Article
  • 1 Comment/Letter to the editor
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  • 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, 159285.

    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

  • 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

  • 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, e22133.

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

    Open Access
  • 2021

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

    Ferdinandusse, S., McWalter, K., te Brinke, H., IJlst, L., Mooijer, P. M., Ruiter, J. P. N., van Lint, A. E. M., Pras-Raves, M., Wever, E., Millan, F., Guillen Sacoto, M. J., Begtrup, A., Tarnopolsky, M., Brady, L., Ladda, R. L., Sell, S. L., Nowak, C. B., Douglas, J., Tian, C., Ulm, E., & 312 othersPerlman, S., Drack, A. V., Chong, K., Martin, N., Brault, J., Brokamp, E., Toro, C., Gahl, W. A., Macnamara, E. F., Wolfe, L. A., Alejandro, M. E., Azamian, M. S., Bacino, C. A., Balasubramanyam, A., Burrage, L. C., Chao, H. T., Clark, G. D., Craigen, W. J., Dai, H., Dhar, S. U., Emrick, L. T., Goldman, A. M., Hanchard, N. A., Jamal, F., Karaviti, L., Lalani, S. R., Lee, B. H., Lewis, R. A., Marom, R., Moretti, P., Murdock, D. R., Nicholas, S. K., Orengo, J. P., Posey, J. E., Potocki, L., Rosenfeld, J. A., Samson, S. L., Scott, D. A., Tran, A. A., Vogel, T. P., Wangler, M. F., Yamamoto, S., Eng, C. M., Liu, P., Ward, P. A., Behrens, E., Deardorff, M., Falk, M., Hassey, K., Sullivan, K., Vanderver, A., Goldstein, D. B., Cope, H., McConkie-Rosell, A., Schoch, K., Shashi, V., Smith, E. C., Spillmann, R. C., Sullivan, J. A., Tan, Q. K. G., Walley, N. M., Agrawal, P. B., Beggs, A. H., Berry, G. T., Briere, L. C., Cobban, L. A., Coggins, M., Cooper, C. M., Fieg, E. L., High, F., Holm, I. A., Korrick, S., Krier, J. B., Lincoln, S. A., Loscalzo, J., Maas, R. L., MacRae, C. A., Pallais, J. C., Rao, D. A., Rodan, L. H., Silverman, E. K., Stoler, J. M., Sweetser, D. A., Walker, M., Walsh, C. A., Esteves, C., Kelley, E. G., Kohane, I. S., LeBlanc, K., McCray, A. T., Nagy, A., Dasari, S., Lanpher, B. C., Lanza, I. R., Morava, E., Oglesbee, D., Bademci, G., Barbouth, D., Bivona, S., Carrasquillo, O., Chang, T. C. P., Forghani, I., Grajewski, A., Isasi, R., Lam, B., Levitt, R., Liu, X. Z., McCauley, J., Sacco, R., Saporta, M., Schaechter, J., Tekin, M., Telischi, F., Thorson, W., Zuchner, S., Colley, H. A., Dayal, J. G., Eckstein, D. J., Findley, L. C., Krasnewich, D. M., Mamounas, L. A., Manolio, T. A., Mulvihill, J. J., LaMoure, G. L., Goldrich, M. P., Urv, T. K., Doss, A. L., Acosta, M. T., Bonnenmann, C., D’Souza, P., Draper, D. D., Ferreira, C., Godfrey, R. A., Groden, C. A., Macnamara, E. F., Maduro, V. V., Markello, T. C., Nath, A., Novacic, D., Pusey, B. N., Toro, C., Wahl, C. E., Baker, E., Burke, E. A., Adams, D. R., Gahl, W. A., Malicdan, M. C. V., Tifft, C. J., Wolfe, L. A., Yang, J., Power, B., Gochuico, B., Huryn, L., Latham, L., Davis, J., Mosbrook-Davis, D., Rossignol, F., Solomon, B., MacDowall, J., Thurm, A., Zein, W., Yousef, M., Adam, M., Amendola, L., Bamshad, M., Beck, A., Bennett, J., Berg-Rood, B., Blue, E., Boyd, B., Byers, P., Chanprasert, S., Cunningham, M., Dipple, K., Doherty, D., Earl, D., Glass, I., Golden-Grant, K., Hahn, S., Hing, A., Hisama, F. M., Horike-Pyne, M., Jarvik, G. P., Jarvik, J., Jayadev, S., Lam, C., Maravilla, K., Mefford, H., Merritt, J. L., Mirzaa, G., Nickerson, D., Raskind, W., Rosenwasser, N., Scott, C. R., Sun, A., Sybert, V., Wallace, S., Wener, M., Wenger, T., Ashley, E. A., Bejerano, G., Bernstein, J. A., Bonner, D., Coakley, T. R., Fernandez, L., Fisher, P. G., Fresard, L., Hom, J., Huang, Y., Kohler, J. N., Kravets, E., Majcherska, M. M., Martin, B. A., Marwaha, S., McCormack, C. E., Raja, A. N., Reuter, C. M., Ruzhnikov, M., Sampson, J. B., Smith, K. S., Sutton, S., Tabor, H. K., Tucker, B. M., Wheeler, M. T., Zastrow, D. B., Zhao, C., Byrd, W. E., Crouse, A. B., Might, M., Nakano-Okuno, M., Whitlock, J., Brown, G., Butte, M. J., Dell’Angelica, E. C., Dorrani, N., Douine, E. D., Fogel, B. L., Gutierrez, I., Huang, A., Krakow, D., Lee, H., Loo, S. K., Mak, B. C., Martin, M. G., Martínez-Agosto, J. A., McGee, E., Nelson, S. F., Nieves-Rodriguez, S., Palmer, C. G. S., Papp, J. C., Parker, N. H., Renteria, G., Signer, R. H., Sinsheimer, J. S., Wan, J., Wang, L. K., Perry, K. W., Woods, J. D., Alvey, J., Andrews, A., Bale, J., Bohnsack, J., Botto, L., Carey, J., Pace, L., Longo, N., Marth, G., Moretti, P., Quinlan, A., Velinder, M., Viskochil, D., Bayrak-Toydemir, P., Mao, R., Westerfield, M., Bican, A., Brokamp, E., Duncan, L., Hamid, R., Kennedy, J., Kozuira, M., Newman, J. H., Phillips, J. A., Rives, L., Robertson, A. K., Solem, E., Cogan, J. D., Cole, F. S., Hayes, N., Kiley, D., Sisco, K., Wambach, J., Wegner, D., Baldridge, D., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L., Waisfisz, Q., Zwijnenburg, P. J. G., Ziegler, A., Barth, M., Smith, R., Ellingwood, S., Gaebler-Spira, D., Bakhtiari, S., Kruer, M. C., van Kampen, A. H. C., Wanders, R. J. A., Waterham, H. R., Cassiman, D., Vaz, F. M. & 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
  • 2020

    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
  • 2019

    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
  • 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., 2018, In: Journal of Inherited Metabolic Disease. 41, 3, p. 479-487

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

    Open Access

  • 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., 2018, In: Journal of Inherited Metabolic Disease. 41, 3, p. 489-498

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

    Open Access