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Volumn 60, Issue 6, 1997, Pages 1535-1539

Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome [2]

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN;

EID: 0030910241     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0002-9297(07)64247-5     Document Type: Letter
Times cited : (12)

References (21)
  • 1
    • 0025968683 scopus 로고
    • Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE
    • B Budowle R Chakraborty AM Giusti AJ Eisenberg RC Allen Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE Am J Hum Genet 48 1991 137 144
    • (1991) Am J Hum Genet , vol.48 , pp. 137-144
    • Budowle, B1    Chakraborty, R2    Giusti, AM3    Eisenberg, AJ4    Allen, RC5
  • 2
    • 0028265345 scopus 로고
    • Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667del4)
    • M Chillón T Casals J Giménez V Nunes X Estivill Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667del4) Hum Mutat 3 1994 223 230
    • (1994) Hum Mutat , vol.3 , pp. 223-230
    • Chillón, M1    Casals, T2    Giménez, J3    Nunes, V4    Estivill, X5
  • 3
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloro-form extraction
    • P Chomczynski N Sacchi Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloro-form extraction Anal Biochem 162 1987 156 159
    • (1987) Anal Biochem , vol.162 , pp. 156-159
    • Chomczynski, P1    Sacchi, N2
  • 4
    • 0026849933 scopus 로고
    • Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome
    • J Gärtner H Moser D Valle Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome Nat Genet 1 1992 a 16 23
    • (1992) Nat Genet , vol.1 , pp. 16-23
    • Gärtner, J1    Moser, H2    Valle, D3
  • 5
    • 11944254867 scopus 로고
    • A polymorphic synonomous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1)
    • J Gärtner C Obie H Moser D Valle A polymorphic synonomous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1) Hum Mol Genet 1 1992 b 654
    • (1992) Hum Mol Genet , vol.1 , pp. 654
    • Gärtner, J1    Obie, C2    Moser, H3    Valle, D4
  • 6
    • 0027992351 scopus 로고
    • Restoration of peroxisome biogenesis in a peroxisome-deficient mammalian cell line by expression of either the 35 kDa or the 70 kDa peroxisomal membrane proteins
    • J Gärtner C Obie P Watkins D Valle Restoration of peroxisome biogenesis in a peroxisome-deficient mammalian cell line by expression of either the 35 kDa or the 70 kDa peroxisomal membrane proteins J Inherit Metab Dis 17 1994 327 329
    • (1994) J Inherit Metab Dis , vol.17 , pp. 327-329
    • Gärtner, J1    Obie, C2    Watkins, P3    Valle, D4
  • 7
    • 0026621245 scopus 로고
    • ABC transporters: from microorganisms to man
    • CF Higgins ABC transporters: from microorganisms to man Annu Rev Cell Biol 8 1992 67 113
    • (1992) Annu Rev Cell Biol , vol.8 , pp. 67-113
    • Higgins, CF1
  • 8
    • 0026500670 scopus 로고
    • Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters
    • K Kamijo T Kamijo I Ueno T Osumi T Hashimoto Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters Biochim Biophys Acta 1129 1992 323 327
    • (1992) Biochim Biophys Acta , vol.1129 , pp. 323-327
    • Kamijo, K1    Kamijo, T2    Ueno, I3    Osumi, T4    Hashimoto, T5
  • 9
    • 0025255475 scopus 로고
    • The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily
    • K Kamijo S Taketani S Yokota T Osumi T Hashimoto The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily J Biol Chem 265 1990 4534 4540
    • (1990) J Biol Chem , vol.265 , pp. 4534-4540
    • Kamijo, K1    Taketani, S2    Yokota, S3    Osumi, T4    Hashimoto, T5
  • 11
    • 0029153135 scopus 로고
    • Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups
    • AB Moser M Rasmussen S Naidu PA Watkins M McGuinness AK Hajra G Chen 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, AB1    Rasmussen, M2    Naidu, S3    Watkins, PA4    McGuinness, M5    Hajra, AK6    Chen, G7
  • 12
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • M Orita H Iwahana H Kanazawa K Hayashi T Sekiya Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms Proc Natl Acad Sci USA 86 1989 2766 2770
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M1    Iwahana, H2    Kanazawa, H3    Hayashi, K4    Sekiya, T5
  • 13
    • 0030058582 scopus 로고    scopus 로고
    • Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal β-oxidation defects
    • BC Paton PC Sharp DI Crane A Poulos Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal β-oxidation defects J Clin Invest 97 1996 681 688
    • (1996) J Clin Invest , vol.97 , pp. 681-688
    • Paton, BC1    Sharp, PC2    Crane, DI3    Poulos, A4
  • 14
    • 0028198386 scopus 로고
    • Sensitivity of single-stranded conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene
    • M Ravnik-Glavac D Glavac M Dean Sensitivity of single-stranded conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene Hum Mol Genet 3 1994 801 807
    • (1994) Hum Mol Genet , vol.3 , pp. 801-807
    • Ravnik-Glavac, M1    Glavac, D2    Dean, M3
  • 15
    • 0017681196 scopus 로고
    • DNA sequencing with chain terminating inhibitors
    • F Sanger S Nicklen RA Coulson DNA sequencing with chain terminating inhibitors Proc Natl Acad Sci USA 74 1977 5463 5467
    • (1977) Proc Natl Acad Sci USA , vol.74 , pp. 5463-5467
    • Sanger, F1    Nicklen, S2    Coulson, RA3
  • 16
    • 0029011568 scopus 로고
    • PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleuko-dystrophy gene
    • N Shani PA Watkins D Valle PXA1 , a possible Saccharomyces cerevisiae ortholog of the human adrenoleuko-dystrophy gene Proc Natl Acad Sci USA 92 1995 6012 6016
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 6012-6016
    • Shani, N1    Watkins, PA2    Valle, D3
  • 17
    • 0027193630 scopus 로고
    • The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
    • VC Sheffield JS Beck AE Kwitek DW Sandstrom EM Stone The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions Genomics 16 1993 325 332
    • (1993) Genomics , vol.16 , pp. 325-332
    • Sheffield, VC1    Beck, JS2    Kwitek, AE3    Sandstrom, DW4    Stone, EM5
  • 18
    • 0027433568 scopus 로고
    • Standardization of complementation grouping of peroxisome-deficient disorders and the second patient with peroxisomal assembly factor-1 (PAF-1) defect
    • N Shimozawa Y Suzuki T Orii A Moser HW Moser RJA Wanders Standardization of complementation grouping of peroxisome-deficient disorders and the second patient with peroxisomal assembly factor-1 (PAF-1) defect Am J Hum Genet 52 1993 843 844
    • (1993) Am J Hum Genet , vol.52 , pp. 843-844
    • Shimozawa, N1    Suzuki, Y2    Orii, T3    Moser, A4    Moser, HW5    Wanders, RJA6
  • 19
    • 9244221081 scopus 로고    scopus 로고
    • Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients
    • N Shimozawa Y Suzuki S Tomatsu T Tsukamoto T Osumi Y Fujiki K Kamijo Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients Pediatr Res 39 1996 812 815
    • (1996) Pediatr Res , vol.39 , pp. 812-815
    • Shimozawa, N1    Suzuki, Y2    Tomatsu, S3    Tsukamoto, T4    Osumi, T5    Fujiki, Y6    Kamijo, K7
  • 21
    • 0026566323 scopus 로고
    • Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells
    • S Yajima Y Suzuki N Shimozawa S Yamaguchi T Orii Y Fujiki T Osumi Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells Hum Genet 88 1992 491 499
    • (1992) Hum Genet , vol.88 , pp. 491-499
    • Yajima, S1    Suzuki, Y2    Shimozawa, N3    Yamaguchi, S4    Orii, T5    Fujiki, Y6    Osumi, T7


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