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Volumn 21, Issue 2, 1998, Pages 149-154

Niemann-Pick disease type C and defective peroxisomal β-oxidation of branched-chain substrates

Author keywords

[No Author keywords available]

Indexed keywords

BILE ACID; BRANCHED CHAIN AMINO ACID; VITAMIN;

EID: 0031970926     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005395709826     Document Type: Article
Times cited : (10)

References (13)
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    • Carstea, E.D.1    Morris, J.A.2    Coleman, K.G.3
  • 3
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    • A new peroxisomal disorder: Di- and tri-hydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency
    • Christensen E, Van Eldere J, Brandt NJ, Schutgens RBH, Wanders RJA, Eyssen HJ (1990) A new peroxisomal disorder: di- and tri-hydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency. J Inher Metab Dis 13: 363-366.
    • (1990) J Inher Metab Dis , vol.13 , pp. 363-366
    • Christensen, E.1    Van Eldere, J.2    Brandt, N.J.3    Schutgens, R.B.H.4    Wanders, R.J.A.5    Eyssen, H.J.6
  • 4
    • 0025875876 scopus 로고
    • Inborn errors of bile acid metabolism
    • Clayton PT (1991) Inborn errors of bile acid metabolism. J Inher Metab Dis 14: 478-496.
    • (1991) J Inher Metab Dis , vol.14 , pp. 478-496
    • Clayton, P.T.1
  • 5
    • 0029808744 scopus 로고    scopus 로고
    • 27 bile acids but normal fibroblast branched-chain fatty acid oxidation
    • 27 bile acids but normal fibroblast branched-chain fatty acid oxidation. J Inher Metab Dis 19: 761-768.
    • (1996) J Inher Metab Dis , vol.19 , pp. 761-768
    • Clayton, P.T.1    Johnson, A.W.2    Mills, K.A.3
  • 8
    • 0028123083 scopus 로고
    • Sterol carrier protein X is peroxisomal 3-oxoacyl coenzyme a thiolase with intrinsic sterol carrier and lipid transfer activity
    • Seedorf U, Brysch P, Engel T, Schrage K, Assmann G (1994) Sterol carrier protein X is peroxisomal 3-oxoacyl coenzyme A thiolase with intrinsic sterol carrier and lipid transfer activity. J Biol Chem 269: 21277-21283.
    • (1994) J Biol Chem , vol.269 , pp. 21277-21283
    • Seedorf, U.1    Brysch, P.2    Engel, T.3    Schrage, K.4    Assmann, G.5
  • 9
    • 0028330236 scopus 로고
    • Complementation studies in Niemann-Pick disease type C indicate the existence of a second group
    • Steinberg SJ, Ward CP, Fensom AH (1994) Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. J Med Genet 31: 317-320.
    • (1994) J Med Genet , vol.31 , pp. 317-320
    • Steinberg, S.J.1    Ward, C.P.2    Fensom, A.H.3
  • 10
    • 0029655528 scopus 로고    scopus 로고
    • Genetic heterogeneity in Niemann-Pick C disease: A study using somatic cell hybridisation and linkage analysis
    • Vanier MT, Duthel S, Rodriguez-Lafrasse C, Pentchev P, Carstea ED (1996) Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridisation and linkage analysis. Am J Hum Genet 58: 118-125.
    • (1996) Am J Hum Genet , vol.58 , pp. 118-125
    • Vanier, M.T.1    Duthel, S.2    Rodriguez-Lafrasse, C.3    Pentchev, P.4    Carstea, E.D.5
  • 11
    • 0025777970 scopus 로고
    • Type C Niemann-Pick disease: Spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing
    • Vanier MT, Rodriguez-Lafrasse C, Rousson R, et al (1991) Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta 1096: 328-337.
    • (1991) Biochim Biophys Acta , vol.1096 , pp. 328-337
    • Vanier, M.T.1    Rodriguez-Lafrasse, C.2    Rousson, R.3
  • 12
    • 0000842144 scopus 로고    scopus 로고
    • Niemman-Pick diseases
    • Moser HW, ed. chap. 66: Neurodystrophies and Neurolipidoses. Amsterdam: Elsevier Science
    • Vanier MT, Suzuki K (1996) Niemman-Pick diseases. In Moser HW, ed. Handbook of Clinical Neurology, vol. 22, chap. 66: Neurodystrophies and Neurolipidoses. Amsterdam: Elsevier Science, 133-162.
    • (1996) Handbook of Clinical Neurology , vol.22 , pp. 133-162
    • Vanier, M.T.1    Suzuki, K.2
  • 13
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    • The 58kDa peroxisomal sterol-carrier protein/thiolase SCPx is the main thiolase involved in branched-chain fatty acid oxidation: Implications for the disorders of peroxisomal fatty acid oxidation
    • Abstract
    • Wanders RJA, Denis S, van Grunsven I, Wouters F, Wirtz KWA, Seedorf U (1997) The 58kDa peroxisomal sterol-carrier protein/thiolase SCPx is the main thiolase involved in branched-chain fatty acid oxidation: implications for the disorders of peroxisomal fatty acid oxidation. J Inher Metab Dis 20 (supplement 1): 72 (Abstract).
    • (1997) J Inher Metab Dis , vol.20 , Issue.1 SUPPL. , pp. 72
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.