Free Access
Issue
Med Sci (Paris)
Volume 28, Number 12, Décembre 2012
Page(s) 1087 - 1094
Section M/S Revues
DOI https://doi.org/10.1051/medsci/20122812019
Published online 21 December 2012
  1. Jangouk P, Zackowski KM, Naidu S, Raymond GV. Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreated. Mol Genet Metab 2012 ; 105 : 180–185. [CrossRef] [PubMed] [Google Scholar]
  2. Kemp S, Wanders R. Biochemical aspects of X-linked adrenoleukodystrophy. Brain Pathol 2010 ; 20 : 831–837. [CrossRef] [PubMed] [Google Scholar]
  3. Mosser J, Douar AM, Sarde CO, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993 ; 361 : 726–730. [CrossRef] [PubMed] [Google Scholar]
  4. Dean M, Rzhetsky A, Allikmets R. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res 2001 ; 11 : 1156–1166. [CrossRef] [PubMed] [Google Scholar]
  5. Kemp S, Theodoulou FL, Wanders RJ. Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance. Br J Pharmacol 2011 ; 164 : 1753–1766. [CrossRef] [PubMed] [Google Scholar]
  6. Wanders RJ, Waterham HR. Biochemistry of mammalian peroxisomes revisited. Annu Rev Biochem 2006 ; 75 : 295–332. [CrossRef] [PubMed] [Google Scholar]
  7. Pujol A, Hindelang C, Callizot N, et al. Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. Hum Mol Genet 2002 ; 11 : 499–505. [CrossRef] [PubMed] [Google Scholar]
  8. van Roermund CW, Visser WF, Ijlst L, et al. The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. Faseb J 2008 ; 22 : 4201–4208. [CrossRef] [PubMed] [Google Scholar]
  9. Kemp S, Wei HM, Lu JF, et al. Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy. Nat Med 1998 ; 4 : 1261–1268. [CrossRef] [PubMed] [Google Scholar]
  10. Netik A, Forss-Petter S, Holzinger A, et al. Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy. Hum Mol Genet 1999 ; 8 : 907–913. [CrossRef] [PubMed] [Google Scholar]
  11. Pujol A, Ferrer I, Camps C, et al. Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy. Hum Mol Genet 2004 ; 13 : 2997–3006. [CrossRef] [PubMed] [Google Scholar]
  12. van Roermund CW, Visser WF, Ijlst L, et al. Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid beta-oxidation. Biochim Biophys Acta Mol Cell Biol Lipids 2010 ; 1811 : 148–152. [CrossRef] [Google Scholar]
  13. Fourcade S, Ruiz M, Camps C, et al. A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis. Am J Physiol Endocrinol Metab 2009 ; 296 : E211–E221. [CrossRef] [PubMed] [Google Scholar]
  14. Genin EC, Geillon F, Gondcaille C, et al. Substrate specificity overlap and interaction between adrenoleukodystrophy protein (ALDP/ABCD1) and adrenoleukodystrophy-related protein (ALDRP/ABCD2). J Biol Chem 2011 ; 286 : 8075–8085. [CrossRef] [PubMed] [Google Scholar]
  15. Gärtner J, Moser H, Valle D. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nat Genet 1992 ; 1 : 16–23. [CrossRef] [PubMed] [Google Scholar]
  16. Liu LX, Janvier K, Berteaux-Lecellier V, et al. Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. J Biol Chem 1999 ; 274 : 32738–32743. [CrossRef] [PubMed] [Google Scholar]
  17. Lombard-Platet G, Savary S, Sarde CO, et al. A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern. Proc Natl Acad Sci USA 1996 ; 93 : 1265–1269. [CrossRef] [Google Scholar]
  18. Berger J, Albet S, Bentejac M, et al. The four murine peroxisomal ABC-transporter genes differ in constitutive, inducible and developmental expression. Eur J Biochem 1999 ; 265 : 719–727. [CrossRef] [PubMed] [Google Scholar]
  19. Bottelbergs A, Verheijden S, Hulshagen L, et al. Axonal integrity in the absence of functional peroxisomes from projection neurons and astrocytes. Glia 2010 ; 58 : 1532–1543. [PubMed] [Google Scholar]
  20. Singh I, Pujol A. Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis. Brain Pathol 2010 ; 20 : 838–844. [CrossRef] [PubMed] [Google Scholar]
  21. Deon M, Sitta A, Barschak AG, et al. Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X-linked adrenoleukodystrophy. Int J Dev Neurosci 2007 ; 25 : 441–444. [CrossRef] [PubMed] [Google Scholar]
  22. Uto T, Contreras MA, Gilg AG, Singh I. Oxidative imbalance in nonstimulated X-adrenoleukodystrophy-derived lymphoblasts. Dev Neurosci 2008 ; 30 : 410–418. [CrossRef] [PubMed] [Google Scholar]
  23. Fourcade S, Ruiz M, Guilera C, et al. Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy. Hum Mol Genet 2010 ; 19 : 2005–2014. [CrossRef] [PubMed] [Google Scholar]
  24. Paintlia AS, Gilg AG, Khan M, et al. Correlation of very long chain fatty acid accumulation and inflammatory disease progression in childhood X-ALD: implications for potential therapies. Neurobiol Dis 2003 ; 14 : 425–439. [CrossRef] [PubMed] [Google Scholar]
  25. Khan M, Singh J, Gilg AG, et al. Very long-chain fatty acid accumulation causes lipotoxic response via 5-lipoxygenase in cerebral adrenoleukodystrophy. J Lipid Res 2010 ; 51 : 1685–1695. [CrossRef] [PubMed] [Google Scholar]
  26. Galino J, Ruiz M, Fourcade S, et al. Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy. Antioxid Redox Signal 2011 ; 15 : 2095–2107. [CrossRef] [PubMed] [Google Scholar]
  27. Singh J, Khan M, Singh I. Silencing of Abcd1 and Abcd2 genes sensitizes astrocytes for inflammation: implication for X-adrenoleukodystrophy. J Lipid Res 2009 ; 50 : 135–147. [CrossRef] [PubMed] [Google Scholar]
  28. Baarine M, Andreoletti P, Athias A, et al. Evidence of oxidative stress in very long chain fatty acid-treated oligodendrocytes and potentialization of ROS production using RNA interference-directed knockdown of ABCD1 and ACOX1 peroxisomal proteins. Neuroscience 2012 ; 213 : 1–18. [CrossRef] [PubMed] [Google Scholar]
  29. Moser HW, Raymond GV, Lu SE, et al. Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo’s oil. Arch Neurol 2005 ; 62 : 1073–1080. [CrossRef] [PubMed] [Google Scholar]
  30. Fourcade S, Savary S, Gondcaille C, et al. Thyroid hormone induction of the adrenoleukodystrophy-related gene (ABCD2). Mol Pharmacol 2003 ; 63 : 1296–1303. [CrossRef] [PubMed] [Google Scholar]
  31. Genin EC, Gondcaille C, Trompier D, Savary S. Induction of the adrenoleukodystrophy-related gene (ABCD2) by thyromimetics. J Steroid Biochem Mol Biol 2009 ; 116 : 37–43. [CrossRef] [PubMed] [Google Scholar]
  32. Gondcaille C, Depreter M, Fourcade S, et al. Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator. J Cell Biol 2005 ; 169 : 93–104. [CrossRef] [PubMed] [Google Scholar]
  33. Gueugnon F, Gondcaille C, Leclercq S, et al. Dehydroepiandrosterone up-regulates the adrenoleukodystrophy-related gene (ABCD2) independently of PPARalpha in rodents. Biochimie 2007 ; 89 : 1312–1321. [CrossRef] [PubMed] [Google Scholar]
  34. Lopez-Erauskin J, Fourcade S, Galino J, et al. Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy. Ann Neurol 2011 ; 70 : 84–92. [CrossRef] [PubMed] [Google Scholar]
  35. Cartier N, Hacein-Bey-Abina S, Bartholomae CC, et al. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 2009 ; 326 : 818–823. [Google Scholar]

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