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For: Kemp S, Valianpour F, Denis S, Ofman R, Sanders RJ, Mooyer P, Barth PG, Wanders RJA. Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy. Mol Genet Metab 2005;84:144-51. [PMID: 15670720 DOI: 10.1016/j.ymgme.2004.09.015] [Citation(s) in RCA: 76] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/20/2004] [Revised: 09/23/2004] [Accepted: 09/24/2004] [Indexed: 12/26/2022]
Number Cited by Other Article(s)
1
Ferrer RM, Jaspers YRJ, Dijkstra IME, Breeuwsma N, van Klinken J, Romero C, Engelen M, Kemp S, Heine VM. Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell-derived astrocytes from adrenoleukodystrophy patients. J Inherit Metab Dis 2025;48:e12832. [PMID: 39704488 PMCID: PMC11660744 DOI: 10.1002/jimd.12832] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/04/2024] [Revised: 12/03/2024] [Accepted: 12/03/2024] [Indexed: 12/21/2024]
2
Jaspers YRJ, Yska HAF, Bergner CG, Dijkstra IME, Huffnagel IC, Voermans MMC, Wever E, Salomons GS, Vaz FM, Jongejan A, Hermans J, Tryon RK, Lund TC, Köhler W, Engelen M, Kemp S. Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy. COMMUNICATIONS MEDICINE 2024;4:175. [PMID: 39256476 PMCID: PMC11387402 DOI: 10.1038/s43856-024-00605-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/10/2023] [Accepted: 09/03/2024] [Indexed: 09/12/2024]  Open
3
Jaspers YRJ, Meyer SW, Pras-Raves ML, Dijkstra IME, Wever EJM, Dane AD, van Klinken JB, Salomons GS, Houtkooper RH, Engelen M, Kemp S, Van Weeghel M, Vaz FM. Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry. J Lipid Res 2024;65:100567. [PMID: 38795862 PMCID: PMC11234049 DOI: 10.1016/j.jlr.2024.100567] [Citation(s) in RCA: 2] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/25/2024] [Revised: 05/15/2024] [Accepted: 05/16/2024] [Indexed: 05/28/2024]  Open
4
Role of Omega-Hydroxy Ceramides in Epidermis: Biosynthesis, Barrier Integrity and Analyzing Method. Int J Mol Sci 2023;24:ijms24055035. [PMID: 36902463 PMCID: PMC10003399 DOI: 10.3390/ijms24055035] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/13/2023] [Revised: 02/19/2023] [Accepted: 02/25/2023] [Indexed: 03/08/2023]  Open
5
Gupta AO, Raymond G, Pierpont RI, Kemp S, McIvor RS, Rayannavar A, Miller B, Lund TC, Orchard PJ. Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy. Expert Opin Biol Ther 2022;22:1151-1162. [DOI: 10.1080/14712598.2022.2124857] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022]
6
Li H, Herrmann T, Seeßle J, Liebisch G, Merle U, Stremmel W, Chamulitrat W. Role of fatty acid transport protein 4 in metabolic tissues: insights into obesity and fatty liver disease. Biosci Rep 2022;42:BSR20211854. [PMID: 35583196 PMCID: PMC9160530 DOI: 10.1042/bsr20211854] [Citation(s) in RCA: 20] [Impact Index Per Article: 6.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/20/2021] [Revised: 05/16/2022] [Accepted: 05/17/2022] [Indexed: 11/28/2022]  Open
7
Terluk MR, Tieu J, Sahasrabudhe SA, Moser A, Watkins PA, Raymond GV, Kartha RV. Nervonic Acid Attenuates Accumulation of Very Long-Chain Fatty Acids and is a Potential Therapy for Adrenoleukodystrophy. Neurotherapeutics 2022;19:1007-1017. [PMID: 35378685 PMCID: PMC9294126 DOI: 10.1007/s13311-022-01226-7] [Citation(s) in RCA: 18] [Impact Index Per Article: 6.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 03/05/2022] [Indexed: 12/23/2022]  Open
8
Zarekiani P, Breur M, Wolf NI, de Vries HE, van der Knaap MS, Bugiani M. Pathology of the neurovascular unit in leukodystrophies. Acta Neuropathol Commun 2021;9:103. [PMID: 34082828 PMCID: PMC8173888 DOI: 10.1186/s40478-021-01206-6] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/13/2021] [Accepted: 05/24/2021] [Indexed: 01/20/2023]  Open
9
Montoro R, Heine VM, Kemp S, Engelen M. Evolution of adrenoleukodystrophy model systems. J Inherit Metab Dis 2021;44:544-553. [PMID: 33373044 PMCID: PMC8248356 DOI: 10.1002/jimd.12357] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/16/2020] [Revised: 12/23/2020] [Accepted: 12/28/2020] [Indexed: 01/09/2023]
10
Raas Q, van de Beek MC, Forss-Petter S, Dijkstra IM, Deschiffart A, Freshner BC, Stevenson TJ, Jaspers YR, Nagtzaam L, Wanders RJ, van Weeghel M, Engelen-Lee JY, Engelen M, Eichler F, Berger J, Bonkowsky JL, Kemp S. Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy. J Clin Invest 2021;131:142500. [PMID: 33690217 DOI: 10.1172/jci142500] [Citation(s) in RCA: 27] [Impact Index Per Article: 6.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/22/2020] [Accepted: 03/03/2021] [Indexed: 12/18/2022]  Open
11
Yazd HS, Rubio VY, Chamberlain CA, Yost RA, Garrett TJ. Metabolomic and lipidomic characterization of an X-chromosome deletion disorder in neural progenitor cells by UHPLC-HRMS. J Mass Spectrom Adv Clin Lab 2021;20:11-24. [PMID: 34820667 PMCID: PMC8601009 DOI: 10.1016/j.jmsacl.2021.05.002] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/20/2020] [Revised: 05/05/2021] [Accepted: 05/24/2021] [Indexed: 12/13/2022]  Open
12
Engelen M, Kemp S, Eichler F. Endocrine dysfunction in adrenoleukodystrophy. HANDBOOK OF CLINICAL NEUROLOGY 2021;182:257-267. [PMID: 34266597 PMCID: PMC11836600 DOI: 10.1016/b978-0-12-819973-2.00018-6] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/04/2022]
13
Palakuzhiyil SV, Christopher R, Chandra SR. Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy. World J Biol Chem 2020;11:99-111. [PMID: 33274015 PMCID: PMC7672940 DOI: 10.4331/wjbc.v11.i3.99] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/04/2020] [Revised: 07/10/2020] [Accepted: 09/18/2020] [Indexed: 02/05/2023]  Open
14
Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis. Commun Biol 2020;3:713. [PMID: 33244184 PMCID: PMC7691522 DOI: 10.1038/s42003-020-01442-x] [Citation(s) in RCA: 19] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/04/2020] [Accepted: 10/31/2020] [Indexed: 11/27/2022]  Open
15
Erdbrügger P, Fröhlich F. The role of very long chain fatty acids in yeast physiology and human diseases. Biol Chem 2020;402:25-38. [PMID: 33544487 DOI: 10.1515/hsz-2020-0234] [Citation(s) in RCA: 31] [Impact Index Per Article: 6.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/30/2020] [Accepted: 11/02/2020] [Indexed: 12/16/2022]
16
Islinger M, Costello JL, Kors S, Soupene E, Levine TP, Kuypers FA, Schrader M. The diversity of ACBD proteins - From lipid binding to protein modulators and organelle tethers. BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR CELL RESEARCH 2020;1867:118675. [PMID: 32044385 PMCID: PMC7057175 DOI: 10.1016/j.bbamcr.2020.118675] [Citation(s) in RCA: 32] [Impact Index Per Article: 6.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 11/15/2019] [Revised: 01/30/2020] [Accepted: 02/05/2020] [Indexed: 12/12/2022]
17
Lee DK, Long NP, Jung J, Kim TJ, Na E, Kang YP, Kwon SW, Jang J. Integrative lipidomic and transcriptomic analysis of X-linked adrenoleukodystrophy reveals distinct lipidome signatures between adrenomyeloneuropathy and childhood cerebral adrenoleukodystrophy. Biochem Biophys Res Commun 2018;508:563-569. [PMID: 30509496 DOI: 10.1016/j.bbrc.2018.11.123] [Citation(s) in RCA: 21] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/06/2018] [Accepted: 11/20/2018] [Indexed: 12/16/2022]
18
Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy. Biochim Biophys Acta Mol Basis Dis 2017;1863:2255-2265. [PMID: 28666219 DOI: 10.1016/j.bbadis.2017.06.003] [Citation(s) in RCA: 32] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/16/2017] [Revised: 05/16/2017] [Accepted: 06/01/2017] [Indexed: 12/20/2022]
19
Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy. Acta Neuropathol 2017;133:283-301. [PMID: 28004277 PMCID: PMC5250669 DOI: 10.1007/s00401-016-1655-9] [Citation(s) in RCA: 46] [Impact Index Per Article: 5.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/12/2016] [Revised: 12/09/2016] [Accepted: 12/09/2016] [Indexed: 12/11/2022]
20
van de Beek MC, Dijkstra IME, Kemp S. Method for Measurement of Peroxisomal Very Long-Chain Fatty Acid Beta-Oxidation and De Novo C26:0 Synthesis Activity in Living Cells Using Stable-Isotope Labeled Docosanoic Acid. Methods Mol Biol 2017;1595:45-54. [PMID: 28409450 DOI: 10.1007/978-1-4939-6937-1_5] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 06/07/2023]
21
Kemp S, Huffnagel IC, Linthorst GE, Wanders RJ, Engelen M. Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history. Nat Rev Endocrinol 2016;12:606-15. [PMID: 27312864 DOI: 10.1038/nrendo.2016.90] [Citation(s) in RCA: 180] [Impact Index Per Article: 20.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/08/2022]
22
van Engen CE, Ofman R, Dijkstra IME, van Goethem TJ, Verheij E, Varin J, Vidaud M, Wanders RJA, Aubourg P, Kemp S, Barbier M. CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids. Biochim Biophys Acta Mol Basis Dis 2016;1862:1861-70. [PMID: 27425035 DOI: 10.1016/j.bbadis.2016.07.006] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/26/2016] [Revised: 07/04/2016] [Accepted: 07/13/2016] [Indexed: 01/08/2023]
23
Schackmann MJA, Ofman R, van Geel BM, Dijkstra IME, van Engelen K, Wanders RJA, Engelen M, Kemp S. Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics. Mol Genet Metab 2016;118:123-7. [PMID: 27067449 DOI: 10.1016/j.ymgme.2016.03.009] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/19/2016] [Revised: 03/29/2016] [Accepted: 03/29/2016] [Indexed: 11/20/2022]
24
Ahmed MA, Kartha RV, Brundage RC, Cloyd J, Basu C, Carlin BP, Jones RO, Moser AB, Fatemi A, Raymond GV. A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy. Br J Clin Pharmacol 2016;81:1058-66. [PMID: 26836218 DOI: 10.1111/bcp.12897] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/07/2015] [Revised: 01/26/2016] [Accepted: 02/01/2016] [Indexed: 11/30/2022]  Open
25
Sivachenko A, Gordon HB, Kimball SS, Gavin EJ, Bonkowsky JL, Letsou A. Neurodegeneration in a Drosophila model of adrenoleukodystrophy: the roles of the Bubblegum and Double bubble acyl-CoA synthetases. Dis Model Mech 2016;9:377-87. [PMID: 26893370 PMCID: PMC4852500 DOI: 10.1242/dmm.022244] [Citation(s) in RCA: 24] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/08/2015] [Accepted: 02/17/2016] [Indexed: 12/21/2022]  Open
26
MicroRNA Profiling Identifies miR-196a as Differentially Expressed in Childhood Adrenoleukodystrophy and Adult Adrenomyeloneuropathy. Mol Neurobiol 2016;54:1392-1403. [PMID: 26843114 DOI: 10.1007/s12035-016-9746-0] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/24/2015] [Accepted: 01/22/2016] [Indexed: 01/18/2023]
27
Morita M, Kawamichi M, Shimura Y, Kawaguchi K, Watanabe S, Imanaka T. Brain microsomal fatty acid elongation is increased in abcd1-deficient mouse during active myelination phase. Metab Brain Dis 2015;30:1359-67. [PMID: 26108493 DOI: 10.1007/s11011-015-9701-1] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/23/2015] [Accepted: 06/12/2015] [Indexed: 10/23/2022]
28
Senanayake VK, Jin W, Mochizuki A, Chitou B, Goodenowe DB. Metabolic dysfunctions in multiple sclerosis: implications as to causation, early detection, and treatment, a case control study. BMC Neurol 2015;15:154. [PMID: 26311235 PMCID: PMC4549881 DOI: 10.1186/s12883-015-0411-4] [Citation(s) in RCA: 28] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/02/2015] [Accepted: 08/18/2015] [Indexed: 12/20/2022]  Open
29
Schackmann MJ, Ofman R, Dijkstra IM, Wanders RJ, Kemp S. Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis. Biochim Biophys Acta Mol Cell Biol Lipids 2015;1851:231-7. [DOI: 10.1016/j.bbalip.2014.12.005] [Citation(s) in RCA: 22] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/07/2014] [Accepted: 12/05/2014] [Indexed: 10/24/2022]
30
Baarine M, Beeson C, Singh A, Singh I. ABCD1 deletion-induced mitochondrial dysfunction is corrected by SAHA: implication for adrenoleukodystrophy. J Neurochem 2015;133:380-96. [PMID: 25393703 DOI: 10.1111/jnc.12992] [Citation(s) in RCA: 30] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/26/2014] [Revised: 10/09/2014] [Accepted: 11/07/2014] [Indexed: 01/09/2023]
31
Abcd2 is a strong modifier of the metabolic impairments in peritoneal macrophages of ABCD1-deficient mice. PLoS One 2014;9:e108655. [PMID: 25255441 PMCID: PMC4177892 DOI: 10.1371/journal.pone.0108655] [Citation(s) in RCA: 21] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/07/2014] [Accepted: 08/25/2014] [Indexed: 02/08/2023]  Open
32
X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment. Curr Neurol Neurosci Rep 2014;14:486. [DOI: 10.1007/s11910-014-0486-0] [Citation(s) in RCA: 68] [Impact Index Per Article: 6.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/05/2023]
33
Berger J, Forss-Petter S, Eichler FS. Pathophysiology of X-linked adrenoleukodystrophy. Biochimie 2013;98:135-42. [PMID: 24316281 PMCID: PMC3988840 DOI: 10.1016/j.biochi.2013.11.023] [Citation(s) in RCA: 155] [Impact Index Per Article: 12.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/25/2013] [Accepted: 11/22/2013] [Indexed: 12/26/2022]
34
Singh J, Khan M, Pujol A, Baarine M, Singh I. Histone deacetylase inhibitor upregulates peroxisomal fatty acid oxidation and inhibits apoptotic cell death in abcd1-deficient glial cells. PLoS One 2013;8:e70712. [PMID: 23923017 PMCID: PMC3724778 DOI: 10.1371/journal.pone.0070712] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/28/2012] [Accepted: 06/26/2013] [Indexed: 11/22/2022]  Open
35
Aubourg P, Wanders R. Peroxisomal disorders. HANDBOOK OF CLINICAL NEUROLOGY 2013;113:1593-609. [PMID: 23622381 DOI: 10.1016/b978-0-444-59565-2.00028-9] [Citation(s) in RCA: 41] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/02/2022]
36
Kemp S, Berger J, Aubourg P. X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects. Biochim Biophys Acta Mol Basis Dis 2012;1822:1465-74. [DOI: 10.1016/j.bbadis.2012.03.012] [Citation(s) in RCA: 191] [Impact Index Per Article: 14.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/17/2011] [Revised: 03/08/2012] [Accepted: 03/20/2012] [Indexed: 12/28/2022]
37
Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJA, Aubourg P, Poll-The BT. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis 2012;7:51. [PMID: 22889154 PMCID: PMC3503704 DOI: 10.1186/1750-1172-7-51] [Citation(s) in RCA: 363] [Impact Index Per Article: 27.9] [Reference Citation Analysis] [Abstract] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/13/2012] [Accepted: 06/11/2012] [Indexed: 12/21/2022]  Open
38
Singh J, Khan M, Singh I. HDAC inhibitor SAHA normalizes the levels of VLCFAs in human skin fibroblasts from X-ALD patients and downregulates the expression of proinflammatory cytokines in Abcd1/2-silenced mouse astrocytes. J Lipid Res 2011;52:2056-69. [PMID: 21891797 DOI: 10.1194/jlr.m017491] [Citation(s) in RCA: 27] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/20/2022]  Open
39
Terre'Blanche G, van der Walt MM, Bergh JJ, Mienie LJ. Treatment of an adrenomyeloneuropathy patient with Lorenzo's oil and supplementation with docosahexaenoic acid--a case report. Lipids Health Dis 2011;10:152. [PMID: 21871076 PMCID: PMC3177782 DOI: 10.1186/1476-511x-10-152] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/25/2011] [Accepted: 08/26/2011] [Indexed: 11/11/2022]  Open
40
Faust PL, Kaye EM, Powers JM. Myelin lesions associated with lysosomal and peroxisomal disorders. Expert Rev Neurother 2010;10:1449-66. [PMID: 20819015 DOI: 10.1586/ern.10.127] [Citation(s) in RCA: 25] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/10/2023]
41
Kemp S, Wanders R. Biochemical aspects of X-linked adrenoleukodystrophy. Brain Pathol 2010;20:831-7. [PMID: 20626744 DOI: 10.1111/j.1750-3639.2010.00391.x] [Citation(s) in RCA: 80] [Impact Index Per Article: 5.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/31/2023]  Open
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Van Veldhoven PP. Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism. J Lipid Res 2010;51:2863-95. [PMID: 20558530 DOI: 10.1194/jlr.r005959] [Citation(s) in RCA: 256] [Impact Index Per Article: 17.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/20/2022]  Open
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Ofman R, Dijkstra IME, van Roermund CWT, Burger N, Turkenburg M, van Cruchten A, van Engen CE, Wanders RJA, Kemp S. The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy. EMBO Mol Med 2010;2:90-7. [PMID: 20166112 PMCID: PMC3377275 DOI: 10.1002/emmm.201000061] [Citation(s) in RCA: 129] [Impact Index Per Article: 8.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/31/2023]  Open
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Fourcade S, Ruiz M, Guilera C, Hahnen E, Brichta L, Naudi A, Portero-Otín M, Dacremont G, Cartier N, Wanders R, Kemp S, Mandel JL, Wirth B, Pamplona R, Aubourg P, Pujol A. Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy. Hum Mol Genet 2010;19:2005-14. [PMID: 20179078 DOI: 10.1093/hmg/ddq082] [Citation(s) in RCA: 68] [Impact Index Per Article: 4.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/04/2023]  Open
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Ivanova PT, Milne SB, Brown HA. Identification of atypical ether-linked glycerophospholipid species in macrophages by mass spectrometry. J Lipid Res 2009;51:1581-90. [PMID: 19965583 DOI: 10.1194/jlr.d003715] [Citation(s) in RCA: 45] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/17/2023]  Open
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Pillai BK, Jasuja R, Simard JR, Hamilton JA. Fast diffusion of very long chain saturated fatty acids across a bilayer membrane and their rapid extraction by cyclodextrins: implications for adrenoleukodystrophy. J Biol Chem 2009;284:33296-304. [PMID: 19801636 PMCID: PMC2785172 DOI: 10.1074/jbc.m109.043737] [Citation(s) in RCA: 17] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/12/2009] [Revised: 09/28/2009] [Indexed: 12/24/2022]  Open
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Baes M, Aubourg P. Peroxisomes, myelination, and axonal integrity in the CNS. Neuroscientist 2009;15:367-79. [PMID: 19666893 DOI: 10.1177/1073858409336297] [Citation(s) in RCA: 57] [Impact Index Per Article: 3.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/25/2022]
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Arnauld S, Fidaleo M, Clémencet MC, Chevillard G, Athias A, Gresti J, Wanders RJ, Latruffe N, Nicolas-Francès V, Mandard S. Modulation of the hepatic fatty acid pool in peroxisomal 3-ketoacyl-CoA thiolase B-null mice exposed to the selective PPARalpha agonist Wy14,643. Biochimie 2009;91:1376-86. [DOI: 10.1016/j.biochi.2009.09.004] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/04/2009] [Accepted: 09/14/2009] [Indexed: 11/16/2022]
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Pastural E, Ritchie S, Lu Y, Jin W, Kavianpour A, Khine Su-Myat K, Heath D, Wood PL, Fisk M, Goodenowe DB. Novel plasma phospholipid biomarkers of autism: mitochondrial dysfunction as a putative causative mechanism. Prostaglandins Leukot Essent Fatty Acids 2009;81:253-64. [PMID: 19608392 DOI: 10.1016/j.plefa.2009.06.003] [Citation(s) in RCA: 75] [Impact Index Per Article: 4.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/07/2009] [Revised: 06/12/2009] [Accepted: 06/15/2009] [Indexed: 12/30/2022]
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Al-Omar MA. The X-Linked Adrenoleukodystrophy (X-ALD) and Oxidative Stress. ACTA ACUST UNITED AC 2009;6:125-34. [PMID: 17317654 DOI: 10.1080/j157v06n03_07] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/18/2022]
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