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Volumn 14, Issue 23, 2005, Pages 3565-3577

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER D2; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID;

EID: 28744450445     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddi384     Document Type: Article
Times cited : (92)

References (56)
  • 1
    • 0013897667 scopus 로고
    • Peroxisomes (microbodies and related particles)
    • De Duve, C. and Baudhuin, P. (1966) Peroxisomes (microbodies and related particles). Physiol. Rev., 46, 323-357.
    • (1966) Physiol. Rev. , vol.46 , pp. 323-357
    • De Duve, C.1    Baudhuin, P.2
  • 2
    • 0032051720 scopus 로고    scopus 로고
    • Lipid metabolism in peroxisomes in relation to human disease
    • Wanders, R.J. and Tager, J.M. (1998) Lipid metabolism in peroxisomes in relation to human disease. Mol. Aspects Med., 19, 69-154.
    • (1998) Mol. Aspects Med. , vol.19 , pp. 69-154
    • Wanders, R.J.1    Tager, J.M.2
  • 3
    • 0031941276 scopus 로고    scopus 로고
    • Components involved in peroxisome import, biogenesis, proliferation, turnover, and movement
    • Subramani, S. (1998) Components involved in peroxisome import, biogenesis, proliferation, turnover, and movement. Physiol. Rev., 78, 171-188.
    • (1998) Physiol. Rev. , vol.78 , pp. 171-188
    • Subramani, S.1
  • 4
    • 0034255179 scopus 로고    scopus 로고
    • Peroxisome biogenesis disorders: Genetics and cell biology
    • Gould, S.J. and Valle, D. (2000) Peroxisome biogenesis disorders: genetics and cell biology. Trends Genet., 16, 340-345.
    • (2000) Trends Genet. , vol.16 , pp. 340-345
    • Gould, S.J.1    Valle, D.2
  • 6
    • 0017106394 scopus 로고
    • Microperoxisome distribution in the central nervous system of the rat
    • McKenna, O., Arnold, G. and Holtzman, E. (1976) Microperoxisome distribution in the central nervous system of the rat. Brain Res., 117, 181-194.
    • (1976) Brain Res. , vol.117 , pp. 181-194
    • McKenna, O.1    Arnold, G.2    Holtzman, E.3
  • 7
    • 0018118471 scopus 로고
    • Microperoxisomes in the central nervous system of the postnatal rat
    • Arnold, G. and Holtzman, E. (1978) Microperoxisomes in the central nervous system of the postnatal rat. Brain Res., 155, 1-17.
    • (1978) Brain Res. , vol.155 , pp. 1-17
    • Arnold, G.1    Holtzman, E.2
  • 8
    • 0031461323 scopus 로고    scopus 로고
    • Neuronal polarity: Vectorial cytoplasmic flow precedes axon formation
    • Bradke, F. and Dotti, C.G. (1997) Neuronal polarity: Vectorial cytoplasmic flow precedes axon formation. Neuron, 19, 1175-1186.
    • (1997) Neuron , vol.19 , pp. 1175-1186
    • Bradke, F.1    Dotti, C.G.2
  • 9
    • 0034949927 scopus 로고    scopus 로고
    • Peroxisomes exist in growth cones and move anterogradely and retrogradely in neurites of PC12D cells
    • Ishikawa, T., Kawai, C., Sano, M. and Minatogawa, Y. (2001) Peroxisomes exist in growth cones and move anterogradely and retrogradely in neurites of PC12D cells. Esp. Cell Res., 266, 260-269.
    • (2001) Esp. Cell Res. , vol.266 , pp. 260-269
    • Ishikawa, T.1    Kawai, C.2    Sano, M.3    Minatogawa, Y.4
  • 11
    • 0029586715 scopus 로고
    • Evolution of ATP-binding cassette transporter genes
    • Dean, M. and Allikmets, R. (1995) Evolution of ATP-binding cassette transporter genes. Curr. Opin. Genet. Dev., 5, 779-785.
    • (1995) Curr. Opin. Genet. Dev. , vol.5 , pp. 779-785
    • Dean, M.1    Allikmets, R.2
  • 13
    • 0029011568 scopus 로고
    • PXA1 a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene
    • Shani, N., Watkins, P.A. and Valle, D. (1995) PXA1 a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene. Proc. Natl Acad. Sci. USA, 92, 6012-6016.
    • (1995) Proc. Natl Acad. Sci. USA , vol.92 , pp. 6012-6016
    • Shani, N.1    Watkins, P.A.2    Valle, D.3
  • 14
    • 0034677197 scopus 로고    scopus 로고
    • Saccharomyces cerevisiae pex3p and pex19p are required for proper localization and stability of peroxisomal membrane proteins
    • Hettema, E.H., Girzalsky, W., van Den Berg, M., Erdmann, R. and Distel, B. (2000) Saccharomyces cerevisiae pex3p and pex19p are required for proper localization and stability of peroxisomal membrane proteins. EMBO J., 19, 223-233.
    • (2000) EMBO J. , vol.19 , pp. 223-233
    • Hettema, E.H.1    Girzalsky, W.2    van Den Berg, M.3    Erdmann, R.4    Distel, B.5
  • 16
    • 0032924991 scopus 로고    scopus 로고
    • Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): Implications for therapy
    • Netik, A., Forss-Petter, S., Holzinger, A., Molzer, B., Unterrainer, G. and Berger, J. (1999) Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): Implications for therapy. Hum. Mol. Genet., 8, 907-913.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 907-913
    • Netik, A.1    Forss-Petter, S.2    Holzinger, A.3    Molzer, B.4    Unterrainer, G.5    Berger, J.6
  • 17
    • 9744231666 scopus 로고    scopus 로고
    • Abcd3-/- mice have a non-shivering thermogenesis defect related to a disturbance in fasting fuel homeostasis
    • The American Society of Human Genetics, Los Angeles, California, Vol. Supplement to
    • Silva-Zolezzi, I., Hebron, K., Mihalik, S., Thomas, G., Valle, D. and Jimenez-Sanchez, G. (2003) Abcd3-/- mice have a non-shivering thermogenesis defect related to a disturbance in fasting fuel homeostasis. 53rd Annual Meeting of the American Society of Human Genetics. The American Society of Human Genetics, Los Angeles, California, Vol. Supplement to Vol. 73, p. 199.
    • (2003) 53rd Annual Meeting of the American Society of Human Genetics , vol.73 , pp. 199
    • Silva-Zolezzi, I.1    Hebron, K.2    Mihalik, S.3    Thomas, G.4    Valle, D.5    Jimenez-Sanchez, G.6
  • 19
    • 0031946259 scopus 로고    scopus 로고
    • Mirror expression of adrenoleukodystrophy and adrenoleukodystrophy related genes in mouse tissues and human cell lines
    • Troffer-Charlier, N., Doerflinger, N., Metzger, E., Fouquet, F., Mandel, J.L. and Aubourg, P. (1998) Mirror expression of adrenoleukodystrophy and adrenoleukodystrophy related genes in mouse tissues and human cell lines. Eur. J. Cell Biol., 75, 254-264.
    • (1998) Eur. J. Cell Biol. , vol.75 , pp. 254-264
    • Troffer-Charlier, N.1    Doerflinger, N.2    Metzger, E.3    Fouquet, F.4    Mandel, J.L.5    Aubourg, P.6
  • 20
    • 0014463748 scopus 로고
    • The mechanism of cerebellar hypotonia. An experimental study in the monkey
    • Gilman, S. (1969) The mechanism of cerebellar hypotonia. An experimental study in the monkey. Brain, 92, 621-638.
    • (1969) Brain , vol.92 , pp. 621-638
    • Gilman, S.1
  • 21
    • 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. and Mandel, J.L. (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
  • 22
    • 0031928862 scopus 로고    scopus 로고
    • Genes involved in hereditary ataxias
    • Klockgether, T. and Evert, B. (1998) Genes involved in hereditary ataxias. Trends Neurosci., 21, 413-418.
    • (1998) Trends Neurosci. , vol.21 , pp. 413-418
    • Klockgether, T.1    Evert, B.2
  • 23
    • 0002918293 scopus 로고
    • Monoclonal antibodies distinguish phosphorylated and nonphosphorylated forms of neurofilaments in situ
    • Sternberger, L.A. and Sternberger, N.H. (1983) Monoclonal antibodies distinguish phosphorylated and nonphosphorylated forms of neurofilaments in situ. Proc. Natl Acad. Sci. USA, 80, 6126-6130.
    • (1983) Proc. Natl Acad. Sci. USA , vol.80 , pp. 6126-6130
    • Sternberger, L.A.1    Sternberger, N.H.2
  • 24
    • 0030034602 scopus 로고    scopus 로고
    • A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern
    • Lombard-Platet, G., Savary, S., Sarde, C.O., Mandel, J.L. and Chimini, G. (1996) A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern. Proc. Natl Acad. Sci. USA, 93, 1265-1269.
    • (1996) Proc. Natl Acad. Sci. USA , vol.93 , pp. 1265-1269
    • Lombard-Platet, G.1    Savary, S.2    Sarde, C.O.3    Mandel, J.L.4    Chimini, G.5
  • 26
    • 0037441487 scopus 로고    scopus 로고
    • Axonal loss in the pathology of MS: Consequences for understanding the progressive phase of the disease
    • Bjartmar, C., Wujek, J.R. and Trapp, B.D. (2003) Axonal loss in the pathology of MS: Consequences for understanding the progressive phase of the disease. J. Neurol. Sci., 206, 165-171.
    • (2003) J. Neurol. Sci. , vol.206 , pp. 165-171
    • Bjartmar, C.1    Wujek, J.R.2    Trapp, B.D.3
  • 28
    • 1442324707 scopus 로고    scopus 로고
    • Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia
    • Simon, D., Seznec, H., Gansmuller, A., Carelle, N., Weber, P., Metzger, D., Rustin, P., Koenig, M. and Puccio, H. (2004) Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia. J. Neurosci., 24, 1987-1995.
    • (2004) J. Neurosci. , vol.24 , pp. 1987-1995
    • Simon, D.1    Seznec, H.2    Gansmuller, A.3    Carelle, N.4    Weber, P.5    Metzger, D.6    Rustin, P.7    Koenig, M.8    Puccio, H.9
  • 29
    • 0035910076 scopus 로고    scopus 로고
    • Delayed-onset ataxia in mice lacking alpha-tocopherol transfer protein: Model for neuronal degeneration caused by chronic oxidative stress
    • Yokota, T., Igarashi, K., Uchihara, T., Jishage, K., Tomita, H., Inaba, A., Li, Y., Arita, M., Suzuki, H., Mizusawa, H. et al. (2001) Delayed-onset ataxia in mice lacking alpha-tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress. Proc. Natl Acad. Sci. USA, 98, 15185-15190.
    • (2001) Proc. Natl Acad. Sci. USA , vol.98 , pp. 15185-15190
    • Yokota, T.1    Igarashi, K.2    Uchihara, T.3    Jishage, K.4    Tomita, H.5    Inaba, A.6    Li, Y.7    Arita, M.8    Suzuki, H.9    Mizusawa, H.10
  • 32
    • 0031587790 scopus 로고    scopus 로고
    • Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism
    • Kobayashi, T., Shinnoh, N., Kondo, A. and Yamada, T. (1997) Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism. Biochem. Biophys. Res. Common., 232, 631-636.
    • (1997) Biochem. Biophys. Res. Commun. , vol.232 , pp. 631-636
    • Kobayashi, T.1    Shinnoh, N.2    Kondo, A.3    Yamada, T.4
  • 33
    • 0032546929 scopus 로고    scopus 로고
    • Steatohepatitis, spontaneous peroxisome proliferation and liver tumors in mice lacking peroxisomal fatty acyl-CoA oxidase. Implications for peroxisome proliferator-activated receptor alpha natural ligand metabolism
    • Fan, C.Y., Pan, J., Usuda, N., Yeldandi, A.V., Rao, M.S. and Reddy, J.K. (1998) Steatohepatitis, spontaneous peroxisome proliferation and liver tumors in mice lacking peroxisomal fatty acyl-CoA oxidase. Implications for peroxisome proliferator-activated receptor alpha natural ligand metabolism. J. Biol. Chem., 273, 15639-15645.
    • (1998) J. Biol. Chem. , vol.273 , pp. 15639-15645
    • Fan, C.Y.1    Pan, J.2    Usuda, N.3    Yeldandi, A.V.4    Rao, M.S.5    Reddy, J.K.6
  • 34
    • 0034799180 scopus 로고    scopus 로고
    • Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse)
    • Baumgart, E., Vanhorebeek, I., Grabenbauer, M., Borgers, M., Declercq, P.E., Fahimi, H.D. and Baes, M. (2001) Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse). Am. J. Pathol., 159, 1477-1494.
    • (2001) Am. J. Pathol. , vol.159 , pp. 1477-1494
    • Baumgart, E.1    Vanhorebeek, I.2    Grabenbauer, M.3    Borgers, M.4    Declercq, P.E.5    Fahimi, H.D.6    Baes, M.7
  • 36
    • 0020516562 scopus 로고
    • Mitochondrial myopathy of cerebro-hepato-renal (Zellweger) syndrome
    • Sarnat, H.B., Machin, G., Darwish, H.Z. and Rubin, S.Z. (1983) Mitochondrial myopathy of cerebro-hepato-renal (Zellweger) syndrome. Can. J. Neurol. Sci., 10, 170-177.
    • (1983) Can. J. Neurol. Sci. , vol.10 , pp. 170-177
    • Sarnat, H.B.1    Machin, G.2    Darwish, H.Z.3    Rubin, S.Z.4
  • 39
    • 0142116341 scopus 로고    scopus 로고
    • Cycles of aberrant synaptic sprouting and neurodegeneration in Alzheimer's and dementia with Lewy bodies
    • Hashimoto, M. and Masliah, E. (2003) Cycles of aberrant synaptic sprouting and neurodegeneration in Alzheimer's and dementia with Lewy bodies. Neurochem. Res., 28, 1743-1756.
    • (2003) Neurochem. Res. , vol.28 , pp. 1743-1756
    • Hashimoto, M.1    Masliah, E.2
  • 41
    • 1642528556 scopus 로고    scopus 로고
    • Disruption of the structure of the Golgi apparatus and the function of the secretory pathway by mutants G93A and G85R of Cu, Zn superoxide dismutase (SOD1) of familial amyotrophic lateral sclerosis
    • Stieber, A., Gonatas, J.O., Moore, J.S., Bantly, A., Yim, H.S., Yim, M.B. and Gonatas, N.K. (2004) Disruption of the structure of the Golgi apparatus and the function of the secretory pathway by mutants G93A and G85R of Cu, Zn superoxide dismutase (SOD1) of familial amyotrophic lateral sclerosis. J. Neurol. Sci., 219, 45-53.
    • (2004) J. Neurol. Sci. , vol.219 , pp. 45-53
    • Stieber, A.1    Gonatas, J.O.2    Moore, J.S.3    Bantly, A.4    Yim, H.S.5    Yim, M.B.6    Gonatas, N.K.7
  • 42
    • 0344874553 scopus 로고    scopus 로고
    • Reduction of detyrosinated microtubules and Golgi fragmentation are linked to tau-induced degeneration in astrocytes
    • Yoshiyama, Y., Zhang, B., Bruce, J., Trojanowski, J.Q. and Lee, V.M. (2003) Reduction of detyrosinated microtubules and Golgi fragmentation are linked to tau-induced degeneration in astrocytes. J. Neurosci., 23, 10662-10671.
    • (2003) J. Neurosci. , vol.23 , pp. 10662-10671
    • Yoshiyama, Y.1    Zhang, B.2    Bruce, J.3    Trojanowski, J.Q.4    Lee, V.M.5
  • 43
    • 0029094333 scopus 로고
    • Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy
    • Ho, J.K., Moser, H., Kishimoto, Y. and Hamilton, J.A. (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
  • 44
    • 0020696422 scopus 로고
    • Brain tissue immunoglobulins in adrenoleukodystrophy: A comparison with multiple sclerosis and systemic lupus erythematosus
    • Bernheimer, H., Budka, H. and Muller, P. (1983) Brain tissue immunoglobulins in adrenoleukodystrophy: A comparison with multiple sclerosis and systemic lupus erythematosus. Acta Neuropathol. (Berl.), 59, 95-102.
    • (1983) Acta Neuropathol. (Berl.) , vol.59 , pp. 95-102
    • Bernheimer, H.1    Budka, H.2    Muller, P.3
  • 45
    • 0031963520 scopus 로고    scopus 로고
    • Peroxisomal disorders: Genotype, phenotype, major neuropathologic lesions, and pathogenesis
    • Powers, J.M. and Moser, H.W. (1998) Peroxisomal disorders: Genotype, phenotype, major neuropathologic lesions, and pathogenesis. Brain Pathol., 8, 101-120.
    • (1998) Brain Pathol. , vol.8 , pp. 101-120
    • Powers, J.M.1    Moser, H.W.2
  • 46
    • 0242268078 scopus 로고    scopus 로고
    • Free radical release in C6 glial cells enriched in hexacosanoic acid: Implication for X-linked adrenoleukodystrophy pathogenesis
    • Di Biase, A., Di Benedetto, R., Fiorentini, C., Travaglione, S., Salvati, S., Attorri, L. and Pietraforte, D. (2004) Free radical release in C6 glial cells enriched in hexacosanoic acid: Implication for X-linked adrenoleukodystrophy pathogenesis. Neurochem. Int., 44, 215-221.
    • (2004) Neurochem. Int. , vol.44 , pp. 215-221
    • Di Biase, A.1    Di Benedetto, R.2    Fiorentini, C.3    Travaglione, S.4    Salvati, S.5    Attorri, L.6    Pietraforte, D.7
  • 47
    • 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. and 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
  • 49
    • 0025963524 scopus 로고
    • Fatty acid composition of human myelin proteolipid protein in peroxisomal disorders
    • Bizzozero, O.A., Zuniga, G. and Lees, M.B. (1991) Fatty acid composition of human myelin proteolipid protein in peroxisomal disorders. J. Neurochem., 56, 872-878.
    • (1991) J. Neurochem. , vol.56 , pp. 872-878
    • Bizzozero, O.A.1    Zuniga, G.2    Lees, M.B.3
  • 50
    • 0022657217 scopus 로고
    • Fatty acid acylation of rat brain myelin proteolipid protein in vitro: Identification of the lipid donor
    • Bizzozero, O.A. and Lees, M.B. (1986) Fatty acid acylation of rat brain myelin proteolipid protein in vitro: Identification of the lipid donor. J. Neurochem., 46, 630-636.
    • (1986) J. Neurochem. , vol.46 , pp. 630-636
    • Bizzozero, O.A.1    Lees, M.B.2
  • 54
    • 0032440308 scopus 로고    scopus 로고
    • Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry
    • Vreken, P., van Lint, A.E., Bootsma, A.H., Overmars, H., Wanders, R.J. and van Gennip, A.H. (1998) Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry. J. Chromatogr. B Biomed. Sci. Appl., 713, 281-287.
    • (1998) J. Chromatogr. B Biomed. Sci. Appl. , vol.713 , pp. 281-287
    • Vreken, P.1    van Lint, A.E.2    Bootsma, A.H.3    Overmars, H.4    Wanders, R.J.5    van Gennip, A.H.6
  • 55
    • 0029613810 scopus 로고
    • Assay of plasmalogens and polyunsaturated fatty acids (PUFA) in erythrocytes and fibroblasts
    • Dacremont, G. and Vincent, G. (1995) Assay of plasmalogens and polyunsaturated fatty acids (PUFA) in erythrocytes and fibroblasts. J. Inherit. Metab. Dis., 18 (Suppl. 1), 84-89.
    • (1995) J. Inherit. Metab. Dis. , vol.18 , Issue.SUPPL. 1 , pp. 84-89
    • Dacremont, G.1    Vincent, G.2


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