메뉴 건너뛰기




Volumn 544, Issue , 2003, Pages 75-93

Mouse models and genetic modifiers in X-linked adrenoleukodystrophy

Author keywords

[No Author keywords available]

Indexed keywords

4 PHENYLBUTYRIC ACID; ABCD1 PROTEIN; ACYL COENZYME A DEHYDROGENASE; CD1D1 PROTEIN; CD1D2 PROTEIN; PROTEIN; TRICHOSTATIN A; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID;

EID: 12144289551     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-9072-3_12     Document Type: Conference Paper
Times cited : (19)

References (41)
  • 2
    • 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., 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
  • 3
    • 0032513465 scopus 로고    scopus 로고
    • Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes
    • Bezman L., Moser H.W., 1998, Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes. Am J Med Genet 76: 415-419.
    • (1998) Am J Med Genet , vol.76 , pp. 415-419
    • Bezman, L.1    Moser, H.W.2
  • 4
    • 0035685449 scopus 로고    scopus 로고
    • Complete characterization of the human ABC gene family
    • Dean M., Allikmets R., 2001, Complete characterization of the human ABC gene family. J Bioenerg Biomembr 33: 475-479.
    • (2001) J Bioenerg Biomembr , vol.33 , pp. 475-479
    • Dean, M.1    Allikmets, R.2
  • 7
    • 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
  • 8
    • 0037047273 scopus 로고    scopus 로고
    • Mouse very long-chain acyl-CoA synthetase in X-linked adrenoleukodystrophy
    • Heinzer A.K., Kemp S., Lu J.F., Watkins P.A., Smith K.D., 2002, Mouse very long-chain acyl-CoA synthetase in X-linked adrenoleukodystrophy. J Biol Chem 277: 28765-28773.
    • (2002) J Biol Chem , vol.277 , pp. 28765-28773
    • Heinzer, A.K.1    Kemp, S.2    Lu, J.F.3    Watkins, P.A.4    Smith, K.D.5
  • 11
    • 0034810289 scopus 로고    scopus 로고
    • Potential environmental and host participants in the early white matter lesion of adreno-leukodystrophy: Morphologic evidence for CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and CD1-mediated lipid antigen presentation
    • Ito M., Blumberg B.M., Mock D.J., Goodman A.D., Moser A.B., Moser H.W., Smith K.D., Powers J.M., 2001, Potential environmental and host participants in the early white matter lesion of adreno-leukodystrophy: morphologic evidence for CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and CD1-mediated lipid antigen presentation. J Neuropathol Exp Neurol 60: 1004-1019.
    • (2001) J Neuropathol Exp Neurol , vol.60 , pp. 1004-1019
    • Ito, M.1    Blumberg, B.M.2    Mock, D.J.3    Goodman, A.D.4    Moser, A.B.5    Moser, H.W.6    Smith, K.D.7    Powers, J.M.8
  • 12
    • 0029880033 scopus 로고    scopus 로고
    • Impaired peroxisomal fatty acid oxidation in human skin fibroblasts with a mitochondrial acylcarnitine/carnitine translocase deficiency
    • Jakobs B.S. and Wanders R.J., 1996, Impaired peroxisomal fatty acid oxidation in human skin fibroblasts with a mitochondrial acylcarnitine/ carnitine translocase deficiency. J Inherit Metab Dis 19: 185-187.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 185-187
    • Jakobs, B.S.1    Wanders, R.J.2
  • 15
    • 0031587790 scopus 로고    scopus 로고
    • Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism
    • Kobayashi T., Shinnoh N., Kondo A., Yamada T., 1997, Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism. Biochem Biophys Res Commun 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
  • 18
    • 0026441186 scopus 로고
    • Predictions of a 2-locus model for disease heterogeneity: Application to adrenoleukodystrophy
    • Maestri N.E. and Beaty T.H., 1992, Predictions of a 2-locus model for disease heterogeneity: application to adrenoleukodystrophy. Am J Med Genet 44: 576-582.
    • (1992) Am J Med Genet , vol.44 , pp. 576-582
    • Maestri, N.E.1    Beaty, T.H.2
  • 20
    • 0034798513 scopus 로고    scopus 로고
    • Evaluation of pharmacological induction of fatty acid beta-oxidation in X-linked adrenoleukodystrophy
    • McGuinness M.C., Zhang H.P., Smith K.D., 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
  • 21
    • 0032932397 scopus 로고    scopus 로고
    • Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls
    • Moser A.B., Kreiter N., Bezman L., Lu S., Raymond G.V., Naidu S., Moser H.W., 1999, Plasma very long chain fatty acids in 3,000 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
  • 26
    • 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
  • 27
    • 0019175034 scopus 로고
    • A correlative study of the adrenal cortex in adreno-leukodystrophy - Evidence for a fatal intoxication with very long chain saturated fatty acids
    • Powers J.M., Schaumburg H.H., Johnson A.B., Raine C.S., 1980, A correlative study of the adrenal cortex in adreno-leukodystrophy - evidence for a fatal intoxication with very long chain saturated fatty acids. Invest Cell Pathol 3: 353-376.
    • (1980) Invest Cell Pathol , vol.3 , pp. 353-376
    • Powers, J.M.1    Schaumburg, H.H.2    Johnson, A.B.3    Raine, C.S.4
  • 28
    • 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 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
  • 29
    • 0021337411 scopus 로고
    • Adrenoleukodystrophy: Very long-chain fatty acid metabolism in fibroblasts
    • Rizzo WB, Avigan J, Chemke J, Schulman JD. Adrenoleukodystrophy: very long-chain fatty acid metabolism in fibroblasts. Neurology 1984; 34: 163-169.
    • (1984) Neurology , vol.34 , pp. 163-169
    • Rizzo, W.B.1    Avigan, J.2    Chemke, J.3    Schulman, J.D.4
  • 30
    • 0017593418 scopus 로고
    • Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy. II. General pathologic, neuropathologic, and biochemical aspects
    • Schaumburg H.H., Powers J.M., Raine C.S., Spencer P.S., Griffin J.W., Prineas J.W., Boehme D.M., 1977, Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. II. General pathologic, neuropathologic, and biochemical aspects. Neurology 27: 1114-1119.
    • (1977) Neurology , vol.27 , pp. 1114-1119
    • Schaumburg, H.H.1    Powers, J.M.2    Raine, C.S.3    Spencer, P.S.4    Griffin, J.W.5    Prineas, J.W.6    Boehme, D.M.7
  • 33
    • 0021333393 scopus 로고
    • Adrenoleukodystrophy: Impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes
    • Singh I., Moser A.E., Moser H.W., 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
  • 35
    • 0000824093 scopus 로고
    • A genetic basis for the multiple phenotypes of X-linked adrenoleukodystrophy
    • Smith K.D., Sack, G., Beaty, T., Bergin, A., Naidu, S., Moser, H. W., 1991, A genetic basis for the multiple phenotypes of X-linked adrenoleukodystrophy. Am J Hum Genet 49: 576.
    • (1991) Am J Hum Genet , vol.49 , pp. 576
    • Smith, K.D.1    Sack, G.2    Beaty, T.3    Bergin, A.4    Naidu, S.5    Moser, H.W.6
  • 36
    • 0032869224 scopus 로고    scopus 로고
    • Role of very-long-chain acylcoenzyme A synthetase in X-linked adrenoleukodystrophy
    • Steinberg S.J., Kemp S., Braiterman L.T., Watkins P.A., 1999, Role of very-long-chain acylcoenzyme A synthetase in X-linked adrenoleukodystrophy. Ann Neurol 46: 409-412.
    • (1999) Ann Neurol , vol.46 , pp. 409-412
    • Steinberg, S.J.1    Kemp, S.2    Braiterman, L.T.3    Watkins, P.A.4
  • 37
    • 0029878384 scopus 로고    scopus 로고
    • Purification and properties of rat liver peroxisomal very-long-chain acyl-CoA synthetase
    • Tokyo
    • Uchida Y., Kondo N., Orii T., Hashimoto T., 1996, Purification and properties of rat liver peroxisomal very-long-chain acyl-CoA synthetase. J Biochem (Tokyo) 119: 565-571.
    • (1996) J Biochem , vol.119 , pp. 565-571
    • Uchida, Y.1    Kondo, N.2    Orii, T.3    Hashimoto, T.4
  • 38
    • 0032790614 scopus 로고    scopus 로고
    • Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil"
    • van Geel B.M., Assies J., Haverkort E.B., Koelman J.H., Verbeeten B. Jr., Wanders R.J., Barth P.G., 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 Jr., B.5    Wanders, R.J.6    Barth, P.G.7
  • 39
    • 0028033905 scopus 로고
    • Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in the Netherlands: A survey of 30 kindreds
    • van Geel B.M., Assies J., Weverling G.J., Barth P.G., 1994, Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in The Netherlands: a survey of 30 kindreds. Neurology 44: 2343-2346.
    • (1994) Neurology , vol.44 , pp. 2343-2346
    • Van Geel, B.M.1    Assies, J.2    Weverling, G.J.3    Barth, P.G.4
  • 40
    • 0026410137 scopus 로고
    • Peroxisomal fatty acid beta-oxidation in relation to adrenoleukodystrophy
    • Wanders R.J. and Tager J.M., 1991, Peroxisomal fatty acid beta-oxidation in relation to adrenoleukodystrophy. Dev Neurosci 13: 262-266.
    • (1991) Dev Neurosci , vol.13 , pp. 262-266
    • Wanders, R.J.1    Tager, J.M.2
  • 41
    • 0034059821 scopus 로고    scopus 로고
    • Pharmacological induction of peroxisomes in peroxisome biogenesis disorders
    • Wei H., Kemp S., McGuinness M.C., Moser A.B., Smith K.D., 2000, Pharmacological induction of peroxisomes in peroxisome biogenesis disorders. Ann Neurol 47: 286-296.
    • (2000) Ann Neurol , vol.47 , pp. 286-296
    • Wei, H.1    Kemp, S.2    McGuinness, M.C.3    Moser, A.B.4    Smith, K.D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.