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Volumn 20, Issue 4, 2010, Pages 831-837

Biochemical aspects of X-linked adrenoleukodystrophy

Author keywords

ALDP; ELOVL; Peroxisome; VLCFA

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER ALDP; BIOLOGICAL MARKER; ELONGATION OF VERY LONG CHAIN FATTY ACID LIKE 1; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; LONG CHAIN FATTY ACID; PROTEIN ABCD1; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID; ABCD1 PROTEIN, HUMAN; FATTY ACID;

EID: 77953228906     PISSN: 10156305     EISSN: 17503639     Source Type: Journal    
DOI: 10.1111/j.1750-3639.2010.00391.x     Document Type: Conference Paper
Times cited : (72)

References (85)
  • 1
    • 51349148504 scopus 로고    scopus 로고
    • Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids
    • Agbaga MP, Brush RS, Mandal MN, Henry K, Elliott MH, Anderson RE (2008) Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids. Proc Natl Acad Sci U S A 105 : 12843 12848.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 12843-12848
    • Agbaga, M.P.1    Brush, R.S.2    Mandal, M.N.3    Henry, K.4    Elliott, M.H.5    Anderson, R.E.6
  • 2
    • 19744370528 scopus 로고    scopus 로고
    • Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy
    • Asheuer M, Bieche I, Laurendeau I, Moser A, Hainque B, Vidaud M, Aubourg P (2005) Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. Hum Mol Genet 14 : 1293 1303.
    • (2005) Hum Mol Genet , vol.14 , pp. 1293-1303
    • Asheuer, M.1    Bieche, I.2    Laurendeau, I.3    Moser, A.4    Hainque, B.5    Vidaud, M.6    Aubourg, P.7
  • 4
    • 0028566461 scopus 로고
    • X-linked adrenoleukodystrophy (ALD): A novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes
    • Berger J, Molzer B, Fae I, Bernheimer H (1994) X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Biochem Biophys Res Comm 205 : 1638 1643.
    • (1994) Biochem Biophys Res Comm , vol.205 , pp. 1638-1643
    • Berger, J.1    Molzer, B.2    Fae, I.3    Bernheimer, H.4
  • 5
    • 0018801578 scopus 로고
    • Solubilization and partial purification of an enzyme involved in rat liver microsomal fatty acid chain elongation: Beta-hydroxyacyl-CoA dehydrase
    • Bernert JT, Jr., Sprecher H (1979) Solubilization and partial purification of an enzyme involved in rat liver microsomal fatty acid chain elongation: beta-hydroxyacyl-CoA dehydrase. J Biol Chem 254 : 11584 11590.
    • (1979) J Biol Chem , vol.254 , pp. 11584-11590
    • Bernert Jr., J.T.1    Sprecher, H.2
  • 6
    • 0035071054 scopus 로고    scopus 로고
    • Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
    • Bezman L, Moser AB, Raymond GV, Rinaldo P, Watkins PA, Smith KD et al (2001) Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol 49 : 512 517.
    • (2001) Ann Neurol , vol.49 , pp. 512-517
    • Bezman, L.1    Moser, A.B.2    Raymond, G.V.3    Rinaldo, P.4    Watkins, P.A.5    Smith, K.D.6
  • 8
  • 9
    • 0020316966 scopus 로고
    • Adrenoleukodystrophy: Effects of dietary restriction of very long chain fatty acids and of administration of carnitine and clofibrate on clinical status and plasma fatty acids
    • Brown FR, Van Duyn MA, Moser AB, Schulman JD, Rizzo WB, Snyder RD et al (1982) Adrenoleukodystrophy: effects of dietary restriction of very long chain fatty acids and of administration of carnitine and clofibrate on clinical status and plasma fatty acids. Johns Hopkins Med J 151 : 164 172.
    • (1982) Johns Hopkins Med J , vol.151 , pp. 164-172
    • Brown, F.R.1    Van Duyn, M.A.2    Moser, A.B.3    Schulman, J.D.4    Rizzo, W.B.5    Snyder, R.D.6
  • 10
    • 70449427834 scopus 로고    scopus 로고
    • Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy
    • Cartier N, Hacein-Bey-Abina S, Bartholomae CC, Veres G, Schmidt M, Kutschera I et al (2009) Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 326 : 818 823.
    • (2009) Science , vol.326 , pp. 818-823
    • Cartier, N.1    Hacein-Bey-Abina, S.2    Bartholomae, C.C.3    Veres, G.4    Schmidt, M.5    Kutschera, I.6
  • 11
    • 0028962332 scopus 로고
    • Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts
    • Cartier N, Lopez J, Moullier P, Rocchiccioli F, Rolland MO, Jorge P et al (1995) Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts. Proc Natl Acad Sci U S A 92 : 1674 1678.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , pp. 1674-1678
    • Cartier, N.1    Lopez, J.2    Moullier, P.3    Rocchiccioli, F.4    Rolland, M.O.5    Jorge, P.6
  • 12
    • 0026544667 scopus 로고
    • The fatty acid chain elongation system of mammalian endoplasmic reticulum
    • Cinti DL, Cook L, Nagi MN, Suneja SK (1992) The fatty acid chain elongation system of mammalian endoplasmic reticulum. Prog Lipid Res 31 : 1 51.
    • (1992) Prog Lipid Res , vol.31 , pp. 1-51
    • Cinti, D.L.1    Cook, L.2    Nagi, M.N.3    Suneja, S.K.4
  • 13
    • 0014670911 scopus 로고
    • Characterization of the fatty acid elongation system in soluble extracts and membrane preparations of rat liver mitochondria
    • Colli W, Hinkle PC, Pullman ME (1969) Characterization of the fatty acid elongation system in soluble extracts and membrane preparations of rat liver mitochondria. J Biol Chem 244 : 6432 6443.
    • (1969) J Biol Chem , vol.244 , pp. 6432-6443
    • Colli, W.1    Hinkle, P.C.2    Pullman, M.E.3
  • 14
    • 0028175513 scopus 로고
    • The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein
    • Contreras M, Mosser J, Mandel JL, Aubourg P, Singh I (1994) The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein. FEBS Lett 344 : 211 215.
    • (1994) FEBS Lett , vol.344 , pp. 211-215
    • Contreras, M.1    Mosser, J.2    Mandel, J.L.3    Aubourg, P.4    Singh, I.5
  • 15
    • 0026793845 scopus 로고
    • Evidence that beta-hydroxyacyl-CoA dehydrase purified from rat liver microsomes is of peroxisomal origin
    • Cook L, Nagi MN, Suneja SK, Hand AR, Cinti DL (1992) Evidence that beta-hydroxyacyl-CoA dehydrase purified from rat liver microsomes is of peroxisomal origin. Biochem J 287 : 91 100.
    • (1992) Biochem J , vol.287 , pp. 91-100
    • Cook, L.1    Nagi, M.N.2    Suneja, S.K.3    Hand, A.R.4    Cinti, D.L.5
  • 16
    • 0034917716 scopus 로고    scopus 로고
    • The human ATP-binding cassette (ABC) transporter superfamily
    • DOI 10.1101/gr.GR-1649R
    • Dean M, Rzhetsky A, Allikmets R (2001) The human ATP-binding cassette (ABC) transporter superfamily. Genome Res 11 : 1156 1166. (Pubitemid 32677289)
    • (2001) Genome Research , vol.11 , Issue.7 , pp. 1156-1166
    • Dean, M.1    Rzhetsky, A.2    Allikmets, R.3
  • 17
    • 34547947625 scopus 로고    scopus 로고
    • A molecular caliper mechanism for determining very long-chain fatty acid length
    • Denic V, Weissman JS (2007) A molecular caliper mechanism for determining very long-chain fatty acid length. Cell 130 : 663 677.
    • (2007) Cell , vol.130 , pp. 663-677
    • Denic, V.1    Weissman, J.S.2
  • 18
    • 0030757906 scopus 로고    scopus 로고
    • Interchromosomal duplications of the adrenoleukodystrophy locus: A phenomenon of pericentromeric plasticity
    • Eichler EE, Budarf ML, Rocchi M, Deaven LL, Doggett NA, Baldini A et al (1997) Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity. Hum Mol Genet 6 : 991 1002.
    • (1997) Hum Mol Genet , vol.6 , pp. 991-1002
    • Eichler, E.E.1    Budarf, M.L.2    Rocchi, M.3    Deaven, L.L.4    Doggett, N.A.5    Baldini, A.6
  • 20
    • 0343742668 scopus 로고    scopus 로고
    • Expression of the adrenoleukodystrophy protein in the human and mouse central nervous system
    • Fouquet F, Zhou JM, Ralston E, Murray K, Troalen F, Magal E et al (1997) Expression of the adrenoleukodystrophy protein in the human and mouse central nervous system. Neurobiol Dis 3 : 271 285.
    • (1997) Neurobiol Dis , vol.3 , pp. 271-285
    • Fouquet, F.1    Zhou, J.M.2    Ralston, E.3    Murray, K.4    Troalen, F.5    Magal, E.6
  • 21
  • 23
    • 0017082379 scopus 로고
    • Brain gangliosides in adrenoleukodystrophy
    • Garashi M, Belchis D, Suzuki K (1976) Brain gangliosides in adrenoleukodystrophy. J Neurochem 27 : 327 328.
    • (1976) J Neurochem , vol.27 , pp. 327-328
    • Garashi, M.1    Belchis, D.2    Suzuki, K.3
  • 24
    • 20444400829 scopus 로고    scopus 로고
    • Function of the PEX19-binding site of human adrenoleukodystrophy protein as targeting motif in man and yeast. PMP targeting is evolutionarily conserved
    • Halbach A, Lorenzen S, Landgraf C, Volkmer-Engert R, Erdmann R, Rottensteiner H (2005) Function of the PEX19-binding site of human adrenoleukodystrophy protein as targeting motif in man and yeast. PMP targeting is evolutionarily conserved. J Biol Chem 280 : 21176 21182.
    • (2005) J Biol Chem , vol.280 , pp. 21176-21182
    • Halbach, A.1    Lorenzen, S.2    Landgraf, C.3    Volkmer-Engert, R.4    Erdmann, R.5    Rottensteiner, H.6
  • 25
    • 0022551325 scopus 로고
    • Lignoceroyl-CoASH ligase: Enzyme defect in fatty acid beta-oxidation system in X-linked childhood adrenoleukodystrophy
    • Hashmi M, Stanley W, Singh I (1986) Lignoceroyl-CoASH ligase: enzyme defect in fatty acid beta-oxidation system in X-linked childhood adrenoleukodystrophy. FEBS Lett 196 : 247 250.
    • (1986) FEBS Lett , vol.196 , pp. 247-250
    • Hashmi, M.1    Stanley, W.2    Singh, I.3
  • 26
    • 0029783210 scopus 로고    scopus 로고
    • The ABC transporter proteins Pat1 and Pat2 are required for import of long-chain fatty acids into peroxisomes of Saccharomyces cerevisiae
    • Hettema EH, van Roermund CW, Distel B, van Den Berg M, Vilela C, Rodrigues-Pousada C et al (1996) The ABC transporter proteins Pat1 and Pat2 are required for import of long-chain fatty acids into peroxisomes of Saccharomyces cerevisiae. EMBO J 15 : 3813 3822.
    • (1996) EMBO J , vol.15 , pp. 3813-3822
    • Hettema, E.H.1    Van Roermund, C.W.2    Distel, B.3    Van Den Berg, M.4    Vilela, C.5    Rodrigues-Pousada, C.6
  • 27
    • 0029094333 scopus 로고
    • Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy
    • Ho JK, Moser H, Kishimoto Y, Hamilton JA (1995) Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy. J Clin Invest 96 : 1455 1463.
    • (1995) J Clin Invest , vol.96 , pp. 1455-1463
    • Ho, J.K.1    Moser, H.2    Kishimoto, Y.3    Hamilton, J.A.4
  • 28
    • 67349206087 scopus 로고    scopus 로고
    • Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method
    • Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F et al (2009) Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab 97 : 212 220.
    • (2009) Mol Genet Metab , vol.97 , pp. 212-220
    • Hubbard, W.C.1    Moser, A.B.2    Liu, A.C.3    Jones, R.O.4    Steinberg, S.J.5    Lorey, F.6
  • 30
    • 33646018341 scopus 로고    scopus 로고
    • Fatty acid elongases in mammals: Their regulation and roles in metabolism
    • Jakobsson A, Westerberg R, Jacobsson A (2006) Fatty acid elongases in mammals: their regulation and roles in metabolism. Prog Lipid Res 45 : 237 249.
    • (2006) Prog Lipid Res , vol.45 , pp. 237-249
    • Jakobsson, A.1    Westerberg, R.2    Jacobsson, A.3
  • 31
    • 34547117903 scopus 로고    scopus 로고
    • Fatty acid transport protein 4 is the principal very long chain fatty acyl-CoA synthetase in skin fibroblasts
    • DOI 10.1074/jbc.M700568200
    • Jia Z, Moulson CL, Pei Z, Miner JH, Watkins PA (2007) Fatty acid transport protein 4 is the principal very long chain fatty acyl-CoA synthetase in skin fibroblasts. J Biol Chem 282 : 20573 20583. (Pubitemid 47100017)
    • (2007) Journal of Biological Chemistry , vol.282 , Issue.28 , pp. 20573-20583
    • Jia, Z.1    Moulson, C.L.2    Pei, Z.3    Miner, J.H.4    Watkins, P.A.5
  • 32
    • 0019898557 scopus 로고
    • Possible role of ceramide in defining structure and function of membrane glycolipids
    • Kannagi R, Nudelman E, Hakomori S (1982) Possible role of ceramide in defining structure and function of membrane glycolipids. Proc Natl Acad Sci U S A 79 : 3470 3474.
    • (1982) Proc Natl Acad Sci U S A , vol.79 , pp. 3470-3474
    • Kannagi, R.1    Nudelman, E.2    Hakomori, S.3
  • 33
    • 57749175975 scopus 로고    scopus 로고
    • 70-kDa peroxisomal membrane protein related protein (P70R/ABCD4) localizes to endoplasmic reticulum not peroxisomes, and NH2-terminal hydrophobic property determines the subcellular localization of ABC subfamily D proteins
    • Kashiwayama Y, Seki M, Yasui A, Murasaki Y, Morita M, Yamashita Y et al (2009) 70-kDa peroxisomal membrane protein related protein (P70R/ABCD4) localizes to endoplasmic reticulum not peroxisomes, and NH2-terminal hydrophobic property determines the subcellular localization of ABC subfamily D proteins. Exp Cell Res 315 : 190 205.
    • (2009) Exp Cell Res , vol.315 , pp. 190-205
    • Kashiwayama, Y.1    Seki, M.2    Yasui, A.3    Murasaki, Y.4    Morita, M.5    Yamashita, Y.6
  • 34
    • 0028146954 scopus 로고
    • Identification of A 2 base-pair deletion in 5 unrelated families with adrenoleukodystrophy - A possible hot-spot for mutations
    • Kemp S, Ligtenberg MJL, vanGeel BM, Barth PG, Wolterman RA, Schoute F et al (1994) Identification of A 2 base-pair deletion in 5 unrelated families with adrenoleukodystrophy - a possible hot-spot for mutations. Biochem Biophys Res Commun 202 : 647 653.
    • (1994) Biochem Biophys Res Commun , vol.202 , pp. 647-653
    • Kemp, S.1    Ligtenberg, M.J.L.2    Vangeel, B.M.3    Barth, P.G.4    Wolterman, R.A.5    Schoute, F.6
  • 35
    • 33846942956 scopus 로고    scopus 로고
    • X-linked adrenoleukodystrophy: Very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment
    • Kemp S, Wanders RJ (2007) X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment. Mol Genet Metab 90 : 268 276.
    • (2007) Mol Genet Metab , vol.90 , pp. 268-276
    • Kemp, S.1    Wanders, R.J.2
  • 36
    • 0031730433 scopus 로고    scopus 로고
    • Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy
    • Kemp S, Wei HM, Lu JF, Braiterman LT, McGuinness MC, Moser AB et al (1998) Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy. Nat Med 4 : 1261 1268.
    • (1998) Nat Med , vol.4 , pp. 1261-1268
    • Kemp, S.1    Wei, H.M.2    Lu, J.F.3    Braiterman, L.T.4    McGuinness, M.C.5    Moser, A.B.6
  • 37
    • 12844267552 scopus 로고    scopus 로고
    • Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy
    • Kemp S, Valianpour F, Denis S, Ofman R, Sanders RJ, Mooyer P et al (2005) Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy. Mol Genet Metab 84 : 144 151.
    • (2005) Mol Genet Metab , vol.84 , pp. 144-151
    • Kemp, S.1    Valianpour, F.2    Denis, S.3    Ofman, R.4    Sanders, R.J.5    Mooyer, P.6
  • 38
    • 0019219998 scopus 로고
    • Adrenoleukodystrophy: Evidence that abnormal very long chain fatty acids of brain cholesterol esters are of exogenous origin
    • Kishimoto Y, Moser HW, Kawamura N, Platt M, Pallante SL, Fenselau C (1980) Adrenoleukodystrophy: evidence that abnormal very long chain fatty acids of brain cholesterol esters are of exogenous origin. Biochem Biophys Res Commun 96 : 69 76.
    • (1980) Biochem Biophys Res Commun , vol.96 , pp. 69-76
    • Kishimoto, Y.1    Moser, H.W.2    Kawamura, N.3    Platt, M.4    Pallante, S.L.5    Fenselau, C.6
  • 39
    • 0020639592 scopus 로고
    • Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy
    • Knazek RA, Rizzo WB, Schulman JD, Dave JR (1983) Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy. J Clin Invest 72 : 245 248.
    • (1983) J Clin Invest , vol.72 , pp. 245-248
    • Knazek, R.A.1    Rizzo, W.B.2    Schulman, J.D.3    Dave, J.R.4
  • 40
    • 34250827848 scopus 로고    scopus 로고
    • ELOVL2 overexpression enhances triacylglycerol synthesis in 3T3-L1 and F442A cells
    • Kobayashi T, Zadravec D, Jacobsson A (2007) ELOVL2 overexpression enhances triacylglycerol synthesis in 3T3-L1 and F442A cells. FEBS Lett 581 : 3157 3163.
    • (2007) FEBS Lett , vol.581 , pp. 3157-3163
    • Kobayashi, T.1    Zadravec, D.2    Jacobsson, A.3
  • 43
    • 0035988360 scopus 로고    scopus 로고
    • Cloning and characterization of a mammalian fatty acyl-CoA elongase as a lipogenic enzyme regulated by SREBPs
    • Matsuzaka T, Shimano H, Yahagi N, Yoshikawa T, Memiya-Kudo M, Hasty AH et al (2002) Cloning and characterization of a mammalian fatty acyl-CoA elongase as a lipogenic enzyme regulated by SREBPs. J Lipid Res 43 : 911 920.
    • (2002) J Lipid Res , vol.43 , pp. 911-920
    • Matsuzaka, T.1    Shimano, H.2    Yahagi, N.3    Yoshikawa, T.4    Memiya-Kudo, M.5    Hasty, A.H.6
  • 44
    • 0034798513 scopus 로고    scopus 로고
    • Evaluation of pharmacological induction of fatty acid beta-oxidation in X-linked adrenoleukodystrophy
    • McGuinness MC, Zhang HP, Smith KD (2001) Evaluation of pharmacological induction of fatty acid beta-oxidation in X-linked adrenoleukodystrophy. Mol Genet Metab 74 : 256 263.
    • (2001) Mol Genet Metab , vol.74 , pp. 256-263
    • McGuinness, M.C.1    Zhang, H.P.2    Smith, K.D.3
  • 45
    • 0343558600 scopus 로고
    • Adrenoleukodystrophy: Evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells
    • Migeon BR, Moser HW, Moser AB, Axelman J, Sillence D, Norum RA (1981) Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci U S A 78 : 5066 5070.
    • (1981) Proc Natl Acad Sci U S A , vol.78 , pp. 5066-5070
    • Migeon, B.R.1    Moser, H.W.2    Moser, A.B.3    Axelman, J.4    Sillence, D.5    Norum, R.A.6
  • 46
    • 64149083800 scopus 로고    scopus 로고
    • Deletion of ELOVL5 leads to fatty liver through activation of SREBP-1c in mice
    • Moon YA, Hammer RE, Horton JD (2009) Deletion of ELOVL5 leads to fatty liver through activation of SREBP-1c in mice. J Lipid Res 50 : 412 423.
    • (2009) J Lipid Res , vol.50 , pp. 412-423
    • Moon, Y.A.1    Hammer, R.E.2    Horton, J.D.3
  • 47
    • 0037470063 scopus 로고    scopus 로고
    • Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade
    • Moon YA, Horton JD (2003) Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade. J Biol Chem 278 : 7335 7343.
    • (2003) J Biol Chem , vol.278 , pp. 7335-7343
    • Moon, Y.A.1    Horton, J.D.2
  • 48
    • 0035977004 scopus 로고    scopus 로고
    • Identification of a mammalian long chain fatty acyl elongase regulated by sterol regulatory element-binding proteins
    • Moon YA, Shah NA, Mohapatra S, Warrington JA, Horton JD (2001) Identification of a mammalian long chain fatty acyl elongase regulated by sterol regulatory element-binding proteins. J Biol Chem 276 : 45358 45366.
    • (2001) J Biol Chem , vol.276 , pp. 45358-45366
    • Moon, Y.A.1    Shah, N.A.2    Mohapatra, S.3    Warrington, J.A.4    Horton, J.D.5
  • 49
    • 0032932397 scopus 로고    scopus 로고
    • Plasma very long chain fatty acids in 3000 peroxisome disease patients and 29 000 controls
    • Moser AB, Kreiter N, Bezman L, Lu S, Raymond GV, Naidu S, Moser HW (1999) Plasma very long chain fatty acids in 3000 peroxisome disease patients and 29 000 controls. Ann Neurol 45 : 100 110.
    • (1999) Ann Neurol , vol.45 , pp. 100-110
    • Moser, A.B.1    Kreiter, N.2    Bezman, L.3    Lu, S.4    Raymond, G.V.5    Naidu, S.6    Moser, H.W.7
  • 52
    • 0027532282 scopus 로고
    • Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
    • Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H et al (1993) Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361 : 726 730.
    • (1993) Nature , vol.361 , pp. 726-730
    • Mosser, J.1    Douar, A.M.2    Sarde, C.O.3    Kioschis, P.4    Feil, R.5    Moser, H.6
  • 53
    • 0013842767 scopus 로고
    • The enzymic chain elongation of fatty acids by rat-liver microsomes
    • Nugteren DH (1965) The enzymic chain elongation of fatty acids by rat-liver microsomes. Biochim Biophys Acta 106 : 280 290.
    • (1965) Biochim Biophys Acta , vol.106 , pp. 280-290
    • Nugteren, D.H.1
  • 54
  • 55
    • 0030878240 scopus 로고    scopus 로고
    • ELO2 and ELO3, homologues of the Saccharomyces cerevisiae ELO1 gene, function in fatty acid elongation and are required for sphingolipid formation
    • Oh CS, Toke DA, Mandala S, Martin CE (1997) ELO2 and ELO3, homologues of the Saccharomyces cerevisiae ELO1 gene, function in fatty acid elongation and are required for sphingolipid formation. J Biol Chem 272 : 17376 17384.
    • (1997) J Biol Chem , vol.272 , pp. 17376-17384
    • Oh, C.S.1    Toke, D.A.2    Mandala, S.3    Martin, C.E.4
  • 57
    • 0025771612 scopus 로고
    • Invited review: Motor neuropathies, motor neuron disorders, and antiglycolipid antibodies
    • Pestronk A (1991) Invited review: motor neuropathies, motor neuron disorders, and antiglycolipid antibodies. Muscle Nerve 14 : 927 936.
    • (1991) Muscle Nerve , vol.14 , pp. 927-936
    • Pestronk, A.1
  • 58
    • 3242762263 scopus 로고    scopus 로고
    • Cerebral X-linked adrenoleukodystrophy: The international hematopoietic cell transplantation experience from 1982 to 1999
    • Peters C, Charnas LR, Tan Y, Ziegler RS, Shapiro EG, DeFor T et al (2004) Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 104 : 881 888.
    • (2004) Blood , vol.104 , pp. 881-888
    • Peters, C.1    Charnas, L.R.2    Tan, Y.3    Ziegler, R.S.4    Shapiro, E.G.5    Defor, T.6
  • 59
    • 0033970326 scopus 로고    scopus 로고
    • Adrenomyeloneuropathy: A neuropathologic review featuring its noninflammatory myelopathy
    • Powers JM, DeCiero DP, Ito M, Moser AB, Moser HW (2000) Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy. J Neuropathol Exp Neurol 59 : 89 102.
    • (2000) J Neuropathol Exp Neurol , vol.59 , pp. 89-102
    • Powers, J.M.1    Deciero, D.P.2    Ito, M.3    Moser, A.B.4    Moser, H.W.5
  • 61
    • 0016262675 scopus 로고
    • Adreno-leukodystrophy (sex-linked Schilder's disease). A pathogenetic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerve and testis
    • Powers JM, Schaumburg HH (1974) Adreno-leukodystrophy (sex-linked Schilder's disease). A pathogenetic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerve and testis. Am J Pathol 76 : 481 491.
    • (1974) Am J Pathol , vol.76 , pp. 481-491
    • Powers, J.M.1    Schaumburg, H.H.2
  • 62
    • 0036501313 scopus 로고    scopus 로고
    • Late onset neurological phenotype of the X-ALD gene inactivation in mice: A mouse model for adrenomyeloneuropathy
    • Pujol A, Hindelang C, Callizot N, Bartsch U, Schachner M, Mandel JL (2002) Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. Hum Mol Genet 11 : 499 505.
    • (2002) Hum Mol Genet , vol.11 , pp. 499-505
    • Pujol, A.1    Hindelang, C.2    Callizot, N.3    Bartsch, U.4    Schachner, M.5    Mandel, J.L.6
  • 63
    • 0021337411 scopus 로고
    • Adrenoleukodystrophy: Very long-chain fatty acid metabolism in fibroblasts
    • Rizzo WB, Avigan J, Chemke J, Schulman JD (1984) Adrenoleukodystrophy: very long-chain fatty acid metabolism in fibroblasts. Neurology 34 : 163 169.
    • (1984) Neurology , vol.34 , pp. 163-169
    • Rizzo, W.B.1    Avigan, J.2    Chemke, J.3    Schulman, J.D.4
  • 64
    • 0035831176 scopus 로고    scopus 로고
    • Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters
    • Roerig P, Mayerhofer P, Holzinger A, Gartner J (2001) Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. FEBS Lett 492 : 66 72.
    • (2001) FEBS Lett , vol.492 , pp. 66-72
    • Roerig, P.1    Mayerhofer, P.2    Holzinger, A.3    Gartner, J.4
  • 65
    • 0029087359 scopus 로고
    • Adrenoleukodystrophy: The restoration of peroxisomal beta-oxidation by transfection of normal cDNA
    • Shinnoh N, Yamada T, Yoshimura T, Furuya H, Yoshida Y, Suzuki Y et al (1995) Adrenoleukodystrophy: the restoration of peroxisomal beta-oxidation by transfection of normal cDNA. Biochem Biophys Res Commun 210 : 830 836.
    • (1995) Biochem Biophys Res Commun , vol.210 , pp. 830-836
    • Shinnoh, N.1    Yamada, T.2    Yoshimura, T.3    Furuya, H.4    Yoshida, Y.5    Suzuki, Y.6
  • 66
    • 0026459521 scopus 로고
    • Peroxisomal beta-oxidation of branched chain fatty acids in human skin fibroblasts
    • Singh H, Brogan M, Johnson D, Poulos A (1992) Peroxisomal beta-oxidation of branched chain fatty acids in human skin fibroblasts. J Lipid Res 33 : 1597 1605.
    • (1992) J Lipid Res , vol.33 , pp. 1597-1605
    • Singh, H.1    Brogan, M.2    Johnson, D.3    Poulos, A.4
  • 67
    • 0032480227 scopus 로고    scopus 로고
    • Lovastatin for X-linked adrenoleukodystrophy
    • Singh I, Khan M, Key L, Pai S (1998) Lovastatin for X-linked adrenoleukodystrophy. N Engl J Med 339 : 702 703.
    • (1998) N Engl J Med , vol.339 , pp. 702-703
    • Singh, I.1    Khan, M.2    Key, L.3    Pai, S.4
  • 68
    • 0021333393 scopus 로고
    • Adrenoleukodystrophy: Impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes
    • Singh I, Moser AE, Moser HW, Kishimoto Y (1984) Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes. Pediatr Res 18 : 286 290.
    • (1984) Pediatr Res , vol.18 , pp. 286-290
    • Singh, I.1    Moser, A.E.2    Moser, H.W.3    Kishimoto, Y.4
  • 70
    • 0028557012 scopus 로고
    • The animal fatty acid synthase: One gene, one polypeptide, seven enzymes
    • Smith S (1994) The animal fatty acid synthase: one gene, one polypeptide, seven enzymes. FASEB J 8 : 1248 1259.
    • (1994) FASEB J , vol.8 , pp. 1248-1259
    • Smith, S.1
  • 71
    • 0037131279 scopus 로고    scopus 로고
    • ATP binding/hydrolysis by and phosphorylation of peroxisomal ATP-binding cassette proteins PMP70 (ABCD3) and adrenoleukodystrophy protein (ABCD1)
    • Tanaka AR, Tanabe K, Morita M, Kurisu M, Kasiwayama Y, Matsuo M et al (2002) ATP binding/hydrolysis by and phosphorylation of peroxisomal ATP-binding cassette proteins PMP70 (ABCD3) and adrenoleukodystrophy protein (ABCD1). J Biol Chem 277 : 40142 40147.
    • (2002) J Biol Chem , vol.277 , pp. 40142-40147
    • Tanaka, A.R.1    Tanabe, K.2    Morita, M.3    Kurisu, M.4    Kasiwayama, Y.5    Matsuo, M.6
  • 72
    • 0026680612 scopus 로고
    • Phospholipids in X-linked adrenoleukodystrophy white matter: Fatty acid abnormalities before the onset of demyelination
    • Theda C, Moser AB, Powers JM, Moser HW (1992) Phospholipids in X-linked adrenoleukodystrophy white matter: fatty acid abnormalities before the onset of demyelination. J Neurol Sci 110 : 195 204.
    • (1992) J Neurol Sci , vol.110 , pp. 195-204
    • Theda, C.1    Moser, A.B.2    Powers, J.M.3    Moser, H.W.4
  • 73
    • 0029774363 scopus 로고    scopus 로고
    • Isolation and characterization of a gene affecting fatty acid elongation in Saccharomyces cerevisiae
    • Toke DA, Martin CE (1996) Isolation and characterization of a gene affecting fatty acid elongation in Saccharomyces cerevisiae. J Biol Chem 271 : 18413 18422.
    • (1996) J Biol Chem , vol.271 , pp. 18413-18422
    • Toke, D.A.1    Martin, C.E.2
  • 74
    • 0019807560 scopus 로고
    • Increased synthesis of hexacosanoic acid (C26:0) by cultured skin fibroblasts from patients with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN)
    • Tsuji S, Sano T, Ariga T, Miyatake T (1981) Increased synthesis of hexacosanoic acid (C26:0) by cultured skin fibroblasts from patients with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN). J Biochem (Tokyo) 90 : 1233 1236.
    • (1981) J Biochem (Tokyo) , vol.90 , pp. 1233-1236
    • Tsuji, S.1    Sano, T.2    Ariga, T.3    Miyatake, T.4
  • 75
    • 0034193457 scopus 로고    scopus 로고
    • Role of a new mammalian gene family in the biosynthesis of very long chain fatty acids and sphingolipids
    • Tvrdik P, Westerberg R, Silve S, Asadi A, Jakobsson A, Cannon B et al (2000) Role of a new mammalian gene family in the biosynthesis of very long chain fatty acids and sphingolipids. J Cell Biol 149 : 707 718.
    • (2000) J Cell Biol , vol.149 , pp. 707-718
    • Tvrdik, P.1    Westerberg, R.2    Silve, S.3    Asadi, A.4    Jakobsson, A.5    Cannon, B.6
  • 77
    • 0032790614 scopus 로고    scopus 로고
    • Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "lorenzo's oil."
    • van Geel BM, Assies J, Haverkort EB, Koelman JH, Verbeeten B, Wanders RJ, Barth PG (1999) Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil." J Neurol Neurosurg Psychiatry 67 : 290 299.
    • (1999) J Neurol Neurosurg Psychiatry , vol.67 , pp. 290-299
    • Van Geel, B.M.1    Assies, J.2    Haverkort, E.B.3    Koelman, J.H.4    Verbeeten, B.5    Wanders, R.J.6    Barth, P.G.7
  • 78
    • 57349105177 scopus 로고    scopus 로고
    • The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters
    • van Roermund CWT, Visser WF, IJlst L, van Cruchten A, Boek M, Kulik W et al (2008) The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB J 22 : 4201 4208.
    • (2008) FASEB J , vol.22 , pp. 4201-4208
    • Van Roermund, C.W.T.1    Visser, W.F.2    Ijlst, L.3    Van Cruchten, A.4    Boek, M.5    Kulik, W.6
  • 79
    • 34047174936 scopus 로고    scopus 로고
    • Loss of functional ELOVL4 depletes very long-chain fatty acids (>or = C28) and the unique omega-O-acylceramides in skin leading to neonatal death
    • Vasireddy V, Uchida Y, Salem N Jr., Kim SY, Mandal MN, Reddy GB et al (2007) Loss of functional ELOVL4 depletes very long-chain fatty acids (>or = C28) and the unique omega-O-acylceramides in skin leading to neonatal death. Hum Mol Genet 16 : 471 482.
    • (2007) Hum Mol Genet , vol.16 , pp. 471-482
    • Vasireddy, V.1    Uchida, Y.2    Salem Jr., N.3    Kim, S.Y.4    Mandal, M.N.5    Reddy, G.B.6
  • 80
    • 0024315871 scopus 로고
    • Fatty acid synthase, a proficient multifunctional enzyme
    • Wakil SJ (1989) Fatty acid synthase, a proficient multifunctional enzyme. Biochemistry 28 : 4523 4530.
    • (1989) Biochemistry , vol.28 , pp. 4523-4530
    • Wakil, S.J.1
  • 82
    • 0023886918 scopus 로고
    • Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids
    • Wanders RJ, van Roermund CW, van Wijland MJ, Schutgens RB, van den BH, Schram AW, Tager JM (1988) Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids. Biochem Biophys Res Commun 153 : 618 624.
    • (1988) Biochem Biophys Res Commun , vol.153 , pp. 618-624
    • Wanders, R.J.1    Van Roermund, C.W.2    Van Wijland, M.J.3    Schutgens, R.B.4    Van Den, B.H.5    Schram, A.W.6    Tager, J.M.7
  • 83
    • 10744233172 scopus 로고    scopus 로고
    • Role for ELOVL3 and fatty acid chain length in development of hair and skin function
    • Westerberg R, Tvrdik P, Unden AB, Mansson JE, Norlen L, Jakobsson A et al (2004) Role for ELOVL3 and fatty acid chain length in development of hair and skin function. J Biol Chem 279 : 5621 5629.
    • (2004) J Biol Chem , vol.279 , pp. 5621-5629
    • Westerberg, R.1    Tvrdik, P.2    Unden, A.B.3    Mansson, J.E.4    Norlen, L.5    Jakobsson, A.6
  • 84
    • 0023903589 scopus 로고
    • Effects of long-chain, saturated fatty acids on membrane microviscosity and adrenocorticotropin responsiveness of human adrenocortical cells in vitro
    • Whitcomb RW, Linehan WM, Knazek RA (1988) Effects of long-chain, saturated fatty acids on membrane microviscosity and adrenocorticotropin responsiveness of human adrenocortical cells in vitro. J Clin Invest 81 : 185 188.
    • (1988) J Clin Invest , vol.81 , pp. 185-188
    • Whitcomb, R.W.1    Linehan, W.M.2    Knazek, R.A.3
  • 85
    • 0035168415 scopus 로고    scopus 로고
    • A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy
    • Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z et al (2001) A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet 27 : 89 93.
    • (2001) Nat Genet , vol.27 , pp. 89-93
    • Zhang, K.1    Kniazeva, M.2    Han, M.3    Li, W.4    Yu, Z.5    Yang, Z.6


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