메뉴 건너뛰기




Volumn 22, Issue 1, 2000, Pages 8-12

Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans

Author keywords

Beta oxidation; Dihydroxyacetonephosphate acyltransferase activity; Infantile Refsum disease; Neonatal adrenoleukodystrophy; Peroxisome biogenesis disorders; Temperature sensitivity; Zellweger syndrome

Indexed keywords

ACYL COENZYME A OXIDASE; CATALASE; DIHYDROXYACETONE PHOSPHATE ACYLTRANSFERASE; MEMBRANE PROTEIN;

EID: 0033955193     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(99)00072-8     Document Type: Article
Times cited : (16)

References (28)
  • 1
    • 0029153135 scopus 로고
    • Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups
    • Moser A.B., Rasmussen M., Naidu S., Watkins P.A., McGuniness M., Hajra A.K., et al. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J Pediatr. 127:1995;13-22.
    • (1995) J Pediatr , vol.127 , pp. 13-22
    • Moser, A.B.1    Rasmussen, M.2    Naidu, S.3    Watkins, P.A.4    McGuniness, M.5    Hajra, A.K.6
  • 2
    • 0028840636 scopus 로고
    • Peroxisomal assembly defects: Clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group
    • Poulos A., Chiristodoulou J., Chow C.W., Goldblatt J., Paton B.C., Orii T., et al. Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group. J Pediatr. 127:1995;596-599.
    • (1995) J Pediatr , vol.127 , pp. 596-599
    • Poulos, A.1    Chiristodoulou, J.2    Chow, C.W.3    Goldblatt, J.4    Paton, B.C.5    Orii, T.6
  • 3
    • 0027433568 scopus 로고
    • Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect (letter)
    • Shimozawa N., Suzuki Y., Orii T., Moser A., Moser H.W., Wanders R.J. Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect (letter). Am J Hum Genet. 52:1993;843-844.
    • (1993) Am J Hum Genet , vol.52 , pp. 843-844
    • Shimozawa, N.1    Suzuki, Y.2    Orii, T.3    Moser, A.4    Moser, H.W.5    Wanders, R.J.6
  • 4
    • 0026523576 scopus 로고
    • A human gene responsible for Zellweger syndrome that affects peroxisome assembly
    • Shimozawa N., Tsukamoto T., Suzuki Y., Orii T., Shirayoshi Y., Mori T., et al. A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science. 255:1992;1132-1134.
    • (1992) Science , vol.255 , pp. 1132-1134
    • Shimozawa, N.1    Tsukamoto, T.2    Suzuki, Y.3    Orii, T.4    Shirayoshi, Y.5    Mori, T.6
  • 6
    • 0029024783 scopus 로고
    • Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders
    • Wiemer E., Nuttley W.M., Bertolaet B.L., Li X., Francke U., Wheelock M.J., et al. Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders. J Cell Biol. 130:1995;51-65.
    • (1995) J Cell Biol , vol.130 , pp. 51-65
    • Wiemer, E.1    Nuttley, W.M.2    Bertolaet, B.L.3    Li, X.4    Francke, U.5    Wheelock, M.J.6
  • 7
    • 19244362560 scopus 로고    scopus 로고
    • Human peroxisome assembly factor-2 (PAF-2): A gene responsible for group C peroxisome biogenesis disorder in humans
    • Fukuda S., Shimozawa N., Suzuki Y., Zhang Z., Tomatsu S., Tsukamoto T., et al. Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. Am J Hum Genet. 59:1996;1210-1220.
    • (1996) Am J Hum Genet , vol.59 , pp. 1210-1220
    • Fukuda, S.1    Shimozawa, N.2    Suzuki, Y.3    Zhang, Z.4    Tomatsu, S.5    Tsukamoto, T.6
  • 9
    • 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 H.W., Valle D., Gould S.J. Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. Nat Genet. 15:1997;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
  • 10
    • 0031862579 scopus 로고    scopus 로고
    • PEX12, the pathogenic gene of group III Zellweger syndrome: CDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p
    • Okumoto K., Shimozawa N., Kawai A., Tamura S., Tsukamoto T., Osumi T., et al. PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p. Mol Cell Biol. 18:1998;4324-4336.
    • (1998) Mol Cell Biol , vol.18 , pp. 4324-4336
    • Okumoto, K.1    Shimozawa, N.2    Kawai, A.3    Tamura, S.4    Tsukamoto, T.5    Osumi, T.6
  • 12
    • 0030720859 scopus 로고    scopus 로고
    • Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
    • Portsteffen H., Beyer A., Becker E., Epplen C., Pawlak A., Kunau W.H., et al. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. Nat Genet. 17:1997;449-452.
    • (1997) Nat Genet , vol.17 , pp. 449-452
    • Portsteffen, H.1    Beyer, A.2    Becker, E.3    Epplen, C.4    Pawlak, A.5    Kunau, W.H.6
  • 13
    • 0032515992 scopus 로고    scopus 로고
    • Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I
    • Tamura S., Okumoto K., Toyama R., Shimozawa N., Tsukamoto T., Suzuki Y., et al. Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. Proc Natl Acad Sci USA. 95:1998;4350-4355.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 4350-4355
    • Tamura, S.1    Okumoto, K.2    Toyama, R.3    Shimozawa, N.4    Tsukamoto, T.5    Suzuki, Y.6
  • 14
    • 0032231872 scopus 로고    scopus 로고
    • Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders
    • Warren D.S., Morrell J.C., Moser H.W., Valle D., Gould S.J. Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. Am J Hum Genet. 63:1998;347-359.
    • (1998) Am J Hum Genet , vol.63 , pp. 347-359
    • Warren, D.S.1    Morrell, J.C.2    Moser, H.W.3    Valle, D.4    Gould, S.J.5
  • 15
    • 0031656796 scopus 로고    scopus 로고
    • Mutation in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B
    • Okumoto K., Itoh R., Shimozawa N., Suzuki Y., Tamura S., Kondo N., et al. Mutation in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. Hum Mol Genet. 7:1998;1399-1405.
    • (1998) Hum Mol Genet , vol.7 , pp. 1399-1405
    • Okumoto, K.1    Itoh, R.2    Shimozawa, N.3    Suzuki, Y.4    Tamura, S.5    Kondo, N.6
  • 16
    • 0032471611 scopus 로고    scopus 로고
    • Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D
    • Honsho M., Tamura S., Shimozawa N., Suzuki Y., Kondo N., Fujiki Y. Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. Am J Hum Genet. 63:1998;1622-1630.
    • (1998) Am J Hum Genet , vol.63 , pp. 1622-1630
    • Honsho, M.1    Tamura, S.2    Shimozawa, N.3    Suzuki, Y.4    Kondo, N.5    Fujiki, Y.6
  • 17
    • 17544402925 scopus 로고    scopus 로고
    • Temperature-sensitive phenotype of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders
    • Imamura A., Tsukamoto T., Shimozawa N., Suzuki Y., Zhang Z., Fujiki Y., et al. Temperature-sensitive phenotype of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders. Am J Hum Genet. 62:1998;1539-1543.
    • (1998) Am J Hum Genet , vol.62 , pp. 1539-1543
    • Imamura, A.1    Tsukamoto, T.2    Shimozawa, N.3    Suzuki, Y.4    Zhang, Z.5    Fujiki, Y.6
  • 18
    • 0026492894 scopus 로고
    • Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome
    • Shimozawa N., Tsukamoto T., Suzuki Y., Orii T., Fujiki Y. Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome. J Clin Invest. 90:1992;1864-1870.
    • (1992) J Clin Invest , vol.90 , pp. 1864-1870
    • Shimozawa, N.1    Tsukamoto, T.2    Suzuki, Y.3    Orii, T.4    Fujiki, Y.5
  • 19
    • 0025342563 scopus 로고
    • Isolation and characterization of Chinese hamster ovary cell mutants defective in assembly of peroxisomes
    • Tsukamoto T., Yokota S., Fujiki Y. Isolation and characterization of Chinese hamster ovary cell mutants defective in assembly of peroxisomes. J Cell Biol. 110:1990;651-660.
    • (1990) J Cell Biol , vol.110 , pp. 651-660
    • Tsukamoto, T.1    Yokota, S.2    Fujiki, Y.3
  • 20
    • 0028845671 scopus 로고
    • Peroxisome assembly factor-2, a putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant
    • Tsukamoto T., Miura S., Nakai T., Yokota S., Shimozawa N., Suzuki Y., et al. Peroxisome assembly factor-2, a putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant. Nat Genet. 11:1995;395-401.
    • (1995) Nat Genet , vol.11 , pp. 395-401
    • Tsukamoto, T.1    Miura, S.2    Nakai, T.3    Yokota, S.4    Shimozawa, N.5    Suzuki, Y.6
  • 21
    • 0025977715 scopus 로고
    • Effects of sodium 2-[5-(4-chlorophenyl)pentyl]-oxirane-2-carboxylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal diseases
    • Suzuki Y., Shimazawa N., Yajima S., Yamaguchi S., Orii T., Hashimoto T. Effects of sodium 2-[5-(4-chlorophenyl)pentyl]-oxirane-2-carboxylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal diseases. Biochem Pharmacol. 41:1991;453-456.
    • (1991) Biochem Pharmacol , vol.41 , pp. 453-456
    • Suzuki, Y.1    Shimazawa, N.2    Yajima, S.3    Yamaguchi, S.4    Orii, T.5    Hashimoto, T.6
  • 22
    • 0024272448 scopus 로고
    • Biochemical and morphologic aspects of peroxisomes in the human rectal mucosa: Diagnosis of Zellweger syndrome simplified by rectal biopsy
    • Shimozawa N., Suzuki Y., Orii T., Yokota S., Hashimoto T. Biochemical and morphologic aspects of peroxisomes in the human rectal mucosa: diagnosis of Zellweger syndrome simplified by rectal biopsy. Pediatr Res. 24:1988;723-727.
    • (1988) Pediatr Res , vol.24 , pp. 723-727
    • Shimozawa, N.1    Suzuki, Y.2    Orii, T.3    Yokota, S.4    Hashimoto, T.5
  • 23
    • 0023902953 scopus 로고
    • Molecular analysis of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: Further heterogeneity of the peroxisomal disorder
    • Suzuki Y., Shimozawa N., Orii T., Igarashi N., Kono N., Hashimoto T. Molecular analysis of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: further heterogeneity of the peroxisomal disorder. Clin Chim Acta. 172:1988;65-76.
    • (1988) Clin Chim Acta , vol.172 , pp. 65-76
    • Suzuki, Y.1    Shimozawa, N.2    Orii, T.3    Igarashi, N.4    Kono, N.5    Hashimoto, T.6
  • 24
    • 0027965618 scopus 로고
    • Peroxisome assembly factor 1: Nonsense mutation in a peroxisome-deficient Chinese hamster ovary cell mutant and deletion analysis
    • Tsukamoto T., Shimozawa N., Fujiki Y. Peroxisome assembly factor 1: nonsense mutation in a peroxisome-deficient Chinese hamster ovary cell mutant and deletion analysis. Mol Cell Biol. 14:1994;5458-5465.
    • (1994) Mol Cell Biol , vol.14 , pp. 5458-5465
    • Tsukamoto, T.1    Shimozawa, N.2    Fujiki, Y.3
  • 25
    • 7844239443 scopus 로고    scopus 로고
    • Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders
    • Imamura A., Tamura S., Shimozawa N., Suzuki Y., Zhang Z., Tsukamoto T., et al. Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders. Hum Mol Genet. 7:1998;2089-2094.
    • (1998) Hum Mol Genet , vol.7 , pp. 2089-2094
    • Imamura, A.1    Tamura, S.2    Shimozawa, N.3    Suzuki, Y.4    Zhang, Z.5    Tsukamoto, T.6
  • 26
    • 0026064431 scopus 로고
    • Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant
    • Tsukamoto T., Miura S., Fujiki Y. Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant. Nature. 350:1991;77-81.
    • (1991) Nature , vol.350 , pp. 77-81
    • Tsukamoto, T.1    Miura, S.2    Fujiki, Y.3
  • 27
    • 0017106394 scopus 로고
    • Microperoxisome distribution in the central nervous system of the rat
    • McKenna O., Arnold G., Holtzman E. Microperoxisome distribution in the central nervous system of the rat. Brain Res. 117:1976;181-194.
    • (1976) Brain Res , vol.117 , pp. 181-194
    • McKenna, O.1    Arnold, G.2    Holtzman, E.3
  • 28
    • 0030464003 scopus 로고    scopus 로고
    • Long survival in a case of peroxisomal biogenesis disorder with peroxisome mosaicism in the liver
    • Giros M., Roels F., Prats J., Ruiz M., Ribes A., Espeel M., et al. Long survival in a case of peroxisomal biogenesis disorder with peroxisome mosaicism in the liver. Ann NY Acad Sci. 804:1996;747-749.
    • (1996) Ann NY Acad Sci , vol.804 , pp. 747-749
    • Giros, M.1    Roels, F.2    Prats, J.3    Ruiz, M.4    Ribes, A.5    Espeel, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.