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Volumn 10, Issue 5, 1997, Pages 282-292

Genotype-phenotype correlations in peroxisomal disorders

Author keywords

Adrenoleukodystrophy; Genotype; Peroxisomes; Refsum disease; Rhizomelic chondrodysplasia punctata; Zellweger syndrome

Indexed keywords

ACETYL COENZYME A ACETYLTRANSFERASE; OXIDOREDUCTASE; PLASMALOGEN;

EID: 0031544655     PISSN: 10195815     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (52)
  • 1
    • 0024366429 scopus 로고
    • Peroxisomal diseases
    • Barnes LAE (ed): Chicago, Year Book Medical Publishers
    • Moser HW: Peroxisomal diseases; in Barnes LAE (ed): Advances in Pediatrics, vol 36. Chicago, Year Book Medical Publishers, 1989, pp 1-38.
    • (1989) Advances in Pediatrics , vol.36 , pp. 1-38
    • Moser, H.W.1
  • 2
    • 0027200034 scopus 로고
    • Peroxisomal diseases
    • Harris H, Hirschhorn KE (eds): New York, Plenum
    • Moser HW: Peroxisomal diseases; in Harris H, Hirschhorn KE (eds): Advances in Human Genetics, vol 31. New York, Plenum, 1993, pp 1-106.
    • (1993) Advances in Human Genetics , vol.31 , pp. 1-106
    • Moser, H.W.1
  • 3
    • 0000228425 scopus 로고    scopus 로고
    • Disorders of peroxisomal biogenesis
    • Scriver CR, Beaudet AL, Sly WS, Valle DE (eds): New York, McGraw-Hill
    • Lazarow PB, Moser HW: Disorders of peroxisomal biogenesis; in Scriver CR, Beaudet AL, Sly WS, Valle DE (eds): The Metabolic and Molecular Basis of Inherited Disease, ed 7. New York, McGraw-Hill, 199, pp 2287-2324.
    • The Metabolic and Molecular Basis of Inherited Disease, Ed 7 , vol.199 , pp. 2287-2324
    • Lazarow, P.B.1    Moser, H.W.2
  • 6
    • 0025640818 scopus 로고
    • Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1
    • Purdue PE, Takada T, Danpure CJ: Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. J Cell Biol 1990;111:2341-2351.
    • (1990) J Cell Biol , vol.111 , pp. 2341-2351
    • Purdue, P.E.1    Takada, T.2    Danpure, C.J.3
  • 7
    • 0001293272 scopus 로고
    • Refsum disease
    • Scriver CR, Beaudet AL, Sly WS, Valle DE (eds): New York, McGraw-Hill
    • Steinberg D: Refsum disease; in Scriver CR, Beaudet AL, Sly WS, Valle DE (eds): The Metabolic and Molecular Basis of Inherited Disease, ed 7. New York, McGraw-Hill, 1994, pp 2351-2369.
    • (1994) The Metabolic and Molecular Basis of Inherited Disease, Ed 7 , pp. 2351-2369
    • Steinberg, D.1
  • 9
    • 0026570615 scopus 로고
    • Clinical recognition of patients affected by a peroxisomal disorder: A retrospective study in 40 patients
    • Theil AC, Schutgens RBH, Wanders RJA, Heymans HSA: Clinical recognition of patients affected by a peroxisomal disorder: A retrospective study in 40 patients. Eur J Pediatr 1992;151: 117-120.
    • (1992) Eur J Pediatr , vol.151 , pp. 117-120
    • Theil, A.C.1    Schutgens, R.B.H.2    Wanders, R.J.A.3    Heymans, H.S.A.4
  • 10
    • 0030860131 scopus 로고    scopus 로고
    • Adrenoleukodystrophy: Phenotype, genetics, pathogenesis and therapy
    • Moser HW: Adrenoleukodystrophy: Phenotype, genetics, pathogenesis and therapy. Brain 1997: 120:1485-1508.
    • (1997) Brain , vol.120 , pp. 1485-1508
    • Moser, H.W.1
  • 11
    • 0030317828 scopus 로고    scopus 로고
    • Peroxisomal disorders: Post and prenatal diagnosis based on a new classification with flowcharts
    • Wanders RJA, Barth PG, Schutgens RBH, Heymans HSA: Peroxisomal disorders: Post and prenatal diagnosis based on a new classification with flowcharts. Int Pediatr 1996;11:203-214.
    • (1996) Int Pediatr , vol.11 , pp. 203-214
    • Wanders, R.J.A.1    Barth, P.G.2    Schutgens, R.B.H.3    Heymans, H.S.A.4
  • 12
    • 0002119762 scopus 로고
    • Primary hyperoxaluria in the cellular level
    • Scriver CR, Beaudet AL, Sly WS, Valle DE (eds): New York, McGraw-Hill
    • Danpure CJ, Purdue PE: Primary hyperoxaluria in the cellular level; in Scriver CR, Beaudet AL, Sly WS, Valle DE (eds): The Metabolic Basis of Inherited Disease, ed 7. New York, McGraw-Hill, 1994, pp 2385-2424.
    • (1994) The Metabolic Basis of Inherited Disease, Ed 7 , pp. 2385-2424
    • Danpure, C.J.1    Purdue, P.E.2
  • 13
    • 0029114944 scopus 로고
    • The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome
    • Krivit W, Lockman LA, Watkins PA, Hirsch J, Shapiro EG: The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome. J Inherit Metab Dis 1995;18:398-412.
    • (1995) J Inherit Metab Dis , vol.18 , pp. 398-412
    • Krivit, W.1    Lockman, L.A.2    Watkins, P.A.3    Hirsch, J.4    Shapiro, E.G.5
  • 14
    • 0028293574 scopus 로고
    • Blood polyunsaturated fatty acids in patients with peroxisomal disorders: A multicenter study
    • Martinez M, Mougan I, Roig M, Ballabriga A: Blood polyunsaturated fatty acids in patients with peroxisomal disorders: A multicenter study. Lipids 1994:29:273-280.
    • (1994) Lipids , vol.29 , pp. 273-280
    • Martinez, M.1    Mougan, I.2    Roig, M.3    Ballabriga, A.4
  • 15
    • 0027319874 scopus 로고
    • Docosahexaenoic acid: A new therapeutic approach to peroxisomal patients. Experience with two cases
    • Martinez M, Pineda M, Vidai R, Martin B: Docosahexaenoic acid: A new therapeutic approach to peroxisomal patients. Experience with two cases. Neurology 1993:43:1389-1397.
    • (1993) Neurology , vol.43 , pp. 1389-1397
    • Martinez, M.1    Pineda, M.2    Vidai, R.3    Martin, B.4
  • 16
    • 0006243239 scopus 로고
    • Lorenzo's oil: A new treatment for adrenoleukodystrophy
    • Odone A, Odone M: Lorenzo's oil: A new treatment for adrenoleukodystrophy. J Pediatr Neurosci 1989;5:55-61.
    • (1989) J Pediatr Neurosci , vol.5 , pp. 55-61
    • Odone, A.1    Odone, M.2
  • 18
    • 0028840636 scopus 로고
    • Peroxisomal assembly defects: Clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group
    • Poulos AS, Christodoulou J, Chow CW, Goldblatt J, Paton BC, Suzuko Y, Shimozawa N: Peroxisomal assembly defects: Clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group. J Pediatr 1995; 127:596-599.
    • (1995) J Pediatr , vol.127 , pp. 596-599
    • Poulos, A.S.1    Christodoulou, J.2    Chow, C.W.3    Goldblatt, J.4    Paton, B.C.5    Suzuko, Y.6    Shimozawa, N.7
  • 21
    • 0029888487 scopus 로고    scopus 로고
    • The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for the stability of the PTS1 receptor
    • Yahraus T, Braverman N, Dodt G, Kalish JE, Morrell C, Moser HW, Valle D, Gould SJ: The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for the stability of the PTS1 receptor. EMBO J 1996;15:2914-2923.
    • (1996) Embo J , vol.15 , pp. 2914-2923
    • Yahraus, T.1    Braverman, N.2    Dodt, G.3    Kalish, J.E.4    Morrell, C.5    Moser, H.W.6    Valle, D.7    Gould, S.J.8
  • 23
    • 0028566461 scopus 로고
    • X-linked adrenoleukodystrophy (ALD): A novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes
    • Berger J, Molzer B, Fae I, Bernheimer H: X-linked adrenoleukodystrophy (ALD): A novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Biochem Biophys Res Commun 1994;205:1638-1643.
    • (1994) Biochem Biophys Res Commun , vol.205 , pp. 1638-1643
    • Berger, J.1    Molzer, B.2    Fae, I.3    Bernheimer, H.4
  • 24
    • 0026441186 scopus 로고
    • Predictions of a 2-locus model for disease heterogeneity: Application to adrenoleukodystrophy
    • Maestri NE, Beaty TH: Predictions of a 2-locus model for disease heterogeneity: Application to adrenoleukodystrophy. Am J Med Genet 1992;44: 576-582.
    • (1992) Am J Med Genet , vol.44 , pp. 576-582
    • Maestri, N.E.1    Beaty, T.H.2
  • 28
    • 0023625663 scopus 로고
    • Can head iniury influence the site of demyelination in adrenoleukodystrophy
    • Wilkinson IA, Hopkins IJ, Pollard AC: Can head iniury influence the site of demyelination in adrenoleukodystrophy. Dev Med Child Neurol 1987;29:784-804.
    • (1987) Dev Med Child Neurol , vol.29 , pp. 784-804
    • Wilkinson, I.A.1    Hopkins, I.J.2    Pollard, A.C.3
  • 30
    • 0343683115 scopus 로고
    • Zellweger-like neuronal migration abnormality in a patient with an isolated defect of peroxisomal fatty acid oxidation
    • Kaufmann WE, Theda C, Naidu S, Moser AB, Moser HW: Zellweger-like neuronal migration abnormality in a patient with an isolated defect of peroxisomal fatty acid oxidation. Ann Neurol 1991;30:497a-498a.
    • (1991) Ann Neurol , vol.30
    • Kaufmann, W.E.1    Theda, C.2    Naidu, S.3    Moser, A.B.4    Moser, H.W.5
  • 31
    • 0031591658 scopus 로고    scopus 로고
    • Sterol carrier protein X (SCPx) is a peroxisomal branched-chain beta-ketothiolase specifically reacting with 3-oxo-pristanoyl-CoA: A new, unique role for SCPx in branched-chain fatty acid metabolism in peroxisomes
    • Wanders RJA, Denis S, Wouters F, Wirtz KWA, Seedor U: Sterol carrier protein X (SCPx) is a peroxisomal branched-chain beta-ketothiolase specifically reacting with 3-oxo-pristanoyl-CoA: A new, unique role for SCPx in branched-chain fatty acid metabolism in peroxisomes. Biochem Biophys Res Commun 1997;236:565-569.
    • (1997) Biochem Biophys Res Commun , vol.236 , pp. 565-569
    • Wanders, R.J.A.1    Denis, S.2    Wouters, F.3    Wirtz, K.W.A.4    Seedor, U.5
  • 36
    • 0030745425 scopus 로고    scopus 로고
    • Phtanoyl-coenzyme a hydroxylase deficiency - The enzyme defect in Refsum's disease
    • Jansen GA, Wanders RJA, Watkins PA, Mihalik SJ: Phtanoyl-coenzyme A hydroxylase deficiency - The enzyme defect in Refsum's disease. N Engl J Med 1997;337:133-134.
    • (1997) N Engl J Med , vol.337 , pp. 133-134
    • Jansen, G.A.1    Wanders, R.J.A.2    Watkins, P.A.3    Mihalik, S.J.4
  • 40
    • 0031587790 scopus 로고    scopus 로고
    • Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism
    • Kobayashi T, Shinnoh N, Kondo A, Tamada T: Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism. Biochem Biophys Res Commun 1997;232:631-636.
    • (1997) Biochem Biophys Res Commun , vol.232 , pp. 631-636
    • Kobayashi, T.1    Shinnoh, N.2    Kondo, A.3    Tamada, T.4
  • 42
    • 0028817372 scopus 로고
    • Mutations in the PTS1 receptor gene, PXR1, define complementation group 1 of the peroxisome biogenesis disorders
    • Dodt G, Braverman N, Wong C, Moser A, Moser HW, Watkins PA, Valle D, Gould S: Mutations in the PTS1 receptor gene, PXR1, define complementation group 1 of the peroxisome biogenesis disorders. Nat Genet 1995;9:115-125.
    • (1995) Nat Genet , vol.9 , pp. 115-125
    • Dodt, G.1    Braverman, N.2    Wong, C.3    Moser, A.4    Moser, H.W.5    Watkins, P.A.6    Valle, D.7    Gould, S.8
  • 44
    • 0030951104 scopus 로고    scopus 로고
    • Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders
    • Chang C-C, Lee W-H, Moser HW, Valle D, Gould SJ: Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. Nat Genet 1997;15:385-388.
    • (1997) Nat Genet , vol.15 , pp. 385-388
    • Chang, C.-C.1    Lee, W.-H.2    Moser, H.W.3    Valle, D.4    Gould, S.J.5
  • 45
    • 0030946632 scopus 로고    scopus 로고
    • Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata
    • Braverman N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D: Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet 1997:15:369-376.
    • (1997) Nat Genet , vol.15 , pp. 369-376
    • Braverman, N.1    Steel, G.2    Obie, C.3    Moser, A.4    Moser, H.5    Gould, S.J.6    Valle, D.7
  • 47
    • 1842335689 scopus 로고    scopus 로고
    • Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor
    • Purdue PE, Zhang JW, Skoneczny M, Lazarow PB: Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nat Genet 1997; 15:381-384.
    • (1997) Nat Genet , vol.15 , pp. 381-384
    • Purdue, P.E.1    Zhang, J.W.2    Skoneczny, M.3    Lazarow, P.B.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.