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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 ML, van Kampen AHC, Waterham HR, Schwarz KV, Okun JG, Schultz C, Vaz FM, Islinger M. Darwisch W, et al. Among authors: van kampen ahc. Commun Biol. 2020 Nov 26;3(1):713. doi: 10.1038/s42003-020-01442-x. Commun Biol. 2020. PMID: 33244184 Free PMC article.
Principles and practice of lipidomics.
Vaz FM, Pras-Raves M, Bootsma AH, van Kampen AH. Vaz FM, et al. J Inherit Metab Dis. 2015 Jan;38(1):41-52. doi: 10.1007/s10545-014-9792-6. Epub 2014 Nov 20. J Inherit Metab Dis. 2015. PMID: 25409862 Review.
Cardiolipin or MTCH2 can serve as tBID receptors during apoptosis.
Raemy E, Montessuit S, Pierredon S, van Kampen AH, Vaz FM, Martinou JC. Raemy E, et al. Cell Death Differ. 2016 Jul;23(7):1165-74. doi: 10.1038/cdd.2015.166. Epub 2016 Jan 22. Cell Death Differ. 2016. PMID: 26794447 Free PMC article.
Defining functional classes of Barth syndrome mutation in humans.
Lu YW, Galbraith L, Herndon JD, Lu YL, Pras-Raves M, Vervaart M, Van Kampen A, Luyf A, Koehler CM, McCaffery JM, Gottlieb E, Vaz FM, Claypool SM. Lu YW, et al. Hum Mol Genet. 2016 May 1;25(9):1754-70. doi: 10.1093/hmg/ddw046. Epub 2016 Feb 16. Hum Mol Genet. 2016. PMID: 26908608 Free PMC article.
Plasma lipidomics as a diagnostic tool for peroxisomal disorders.
Herzog K, Pras-Raves ML, Ferdinandusse S, Vervaart MAT, Luyf ACM, van Kampen AHC, Wanders RJA, Waterham HR, Vaz FM. Herzog K, et al. Among authors: van kampen ahc. J Inherit Metab Dis. 2018 May;41(3):489-498. doi: 10.1007/s10545-017-0114-7. Epub 2017 Dec 5. J Inherit Metab Dis. 2018. PMID: 29209936 Free PMC article.
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Vaz FM, McDermott JH, Alders M, Wortmann SB, Kölker S, Pras-Raves ML, Vervaart MAT, van Lenthe H, Luyf ACM, Elfrink HL, Metcalfe K, Cuvertino S, Clayton PE, Yarwood R, Lowe MP, Lovell S, Rogers RC; Deciphering Developmental Disorders Study; van Kampen AHC, Ruiter JPN, Wanders RJA, Ferdinandusse S, van Weeghel M, Engelen M, Banka S. Vaz FM, et al. Among authors: van weeghel m, van lenthe h, van kampen ahc. Brain. 2019 Nov 1;142(11):3382-3397. doi: 10.1093/brain/awz291. Brain. 2019. PMID: 31637422 Free PMC article.
Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.
Staps P, Rizzo WB, Vaz FM, Bugiani M, Giera M, Heijs B, van Kampen AHC, Pras-Raves ML, Breur M, Groen A, Ferdinandusse S, van der Graaf M, Van Goethem G, Lammens M, Wevers RA, Willemsen MAAP. Staps P, et al. Among authors: van goethem g, van kampen ahc, van der graaf m. J Inherit Metab Dis. 2020 Nov;43(6):1265-1278. doi: 10.1002/jimd.12275. Epub 2020 Jul 9. J Inherit Metab Dis. 2020. PMID: 32557630 Free PMC article.
122 results