메뉴 건너뛰기




Volumn 69, Issue 2, 1998, Pages 174-179

Adrenoleukodystrophy/adrenomyeloneuropathy, clinical, biochemical and genetic findings;Adrenoleukodystrophie und Adrenomyeloneuropathie: Klinische, biochemische und molekulargenetische Befunde

Author keywords

Adrenmyeloneuropathy; Adrenoleukodystrophy; Genetic analysis; Peroxisomal disease

Indexed keywords

ARGININE; DNA; GLUTAMIC ACID; LYSINE; PHENYLALANINE; SATURATED FATTY ACID; SERINE; TRYPTOPHAN; VERY LONG CHAIN FATTY ACID; ABC TRANSPORTER; ABCD1 PROTEIN, HUMAN; FATTY ACID; MEMBRANE PROTEIN;

EID: 0031596576     PISSN: 00282804     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001150050257     Document Type: Article
Times cited : (2)

References (19)
  • 4
    • 0027375464 scopus 로고
    • Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy
    • Cartier N, Sarde CO, Douar AM, Messer J, Mandel JL, Aubourg P (1993) Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. Hum Mol Gen 2:1949-1951
    • (1993) Hum Mol Gen , vol.2 , pp. 1949-1951
    • Cartier, N.1    Sarde, C.O.2    Douar, A.M.3    Messer, J.4    Mandel, J.L.5    Aubourg, P.6
  • 5
    • 0028175513 scopus 로고
    • The protein coded by X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein
    • Contreras M, Mosser J, Mandel JL, Aubourg P, Singh I (1994) The protein coded by X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein. FEBS Letters 344:211-215
    • (1994) FEBS Letters , vol.344 , pp. 211-215
    • Contreras, M.1    Mosser, J.2    Mandel, J.L.3    Aubourg, P.4    Singh, I.5
  • 6
    • 0027978453 scopus 로고
    • Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene
    • Fanen P, Guidoux S, Sarde CO, Mandel JL, Goosens M, Aubourg P (1994) Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. J Clin Invest 94:516-520
    • (1994) J Clin Invest , vol.94 , pp. 516-520
    • Fanen, P.1    Guidoux, S.2    Sarde, C.O.3    Mandel, J.L.4    Goosens, M.5    Aubourg, P.6
  • 7
  • 8
    • 0017608047 scopus 로고
    • Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy. Clinical and endocrinological aspects
    • Griffin JW, Goren E, Schaumburg H (1977) Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. Clinical and endocrinological aspects. Neurology 27:1107-1113
    • (1977) Neurology , vol.27 , pp. 1107-1113
    • Griffin, J.W.1    Goren, E.2    Schaumburg, H.3
  • 10
    • 0025255475 scopus 로고
    • The 70 kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily
    • Kamijo K, Taketani S, Yokota S, Osumi T, Hashimoto T (1990) The 70 kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily. J Biol Chem 265.4534-4540
    • (1990) J Biol Chem , vol.265 , pp. 4534-4540
    • Kamijo, K.1    Taketani, S.2    Yokota, S.3    Osumi, T.4    Hashimoto, T.5
  • 11
    • 0030060578 scopus 로고    scopus 로고
    • Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/ adrenomyeloneuropathy
    • Krasemann EW, Meier V, Korenke GC, Hunnemann DH, Hanefeld F (1996) Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/ adrenomyeloneuropathy. Hum Genet 97:194-197
    • (1996) Hum Genet , vol.97 , pp. 194-197
    • Krasemann, E.W.1    Meier, V.2    Korenke, G.C.3    Hunnemann, D.H.4    Hanefeld, F.5
  • 13
    • 0001574585 scopus 로고
    • Adrenoleukodystrophy (X-linked)
    • Scriver CR, Beaudet AL, Sly WS (eds) McGraw-Hill, New York
    • Moser HW, Moser AB (1991) Adrenoleukodystrophy (X-linked). In: Scriver CR, Beaudet AL, Sly WS (eds) The metabolic basis of inherited disease, McGraw-Hill, New York, pp 1511-1532
    • (1991) The Metabolic Basis of Inherited Disease , pp. 1511-1532
    • Moser, H.W.1    Moser, A.B.2
  • 16
    • 0016829831 scopus 로고
    • Adrenoleukodystrophy: A clinical and pathology study of 17 cases
    • Schaumburg HH, Powers JM, Raine CS, Suzuki K (1975) Adrenoleukodystrophy: a clinical and pathology study of 17 cases. Arch Neurol 33:577-591
    • (1975) Arch Neurol , vol.33 , pp. 577-591
    • Schaumburg, H.H.1    Powers, J.M.2    Raine, C.S.3    Suzuki, K.4
  • 17
    • 0344803532 scopus 로고
    • Adrenoleukodystrophy: Impaired oxidation of very long chain fatty acids in cultured skin fibroblasts and adrenal cortex
    • Singh I, Moser HW, Moser A (1984) Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in cultured skin fibroblasts and adrenal cortex. Proc Natl Acad Sci USA 81:4203-4207
    • (1984) Proc Natl Acad Sci USA , vol.81 , pp. 4203-4207
    • Singh, I.1    Moser, H.W.2    Moser, A.3
  • 18
    • 0028937922 scopus 로고
    • A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: A clinical, biochemical and genetic study
    • Vorgerd M, Fuchs S, Tegenthoff M, Malin J-P (1995) A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical and genetic study. J Neurol Neurosurg Psychiatry 58:229-231
    • (1995) J Neurol Neurosurg Psychiatry , vol.58 , pp. 229-231
    • Vorgerd, M.1    Fuchs, S.2    Tegenthoff, M.3    Malin, J.-P.4
  • 19
    • 0029745801 scopus 로고    scopus 로고
    • Clinical biochemical and molecular genetic findings in a family with adrenomyeloneuropathy
    • Vorgerd M, Fuchs S, Conzelmann E, Tegenthoff M, Malin J-P (1996) Clinical biochemical and molecular genetic findings in a family with adrenomyeloneuropathy. Eur Neurol 3:385-388
    • (1996) Eur Neurol , vol.3 , pp. 385-388
    • Vorgerd, M.1    Fuchs, S.2    Conzelmann, E.3    Tegenthoff, M.4    Malin, J.-P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.