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Volumn 17, Issue 4, 1997, Pages 445-448

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOGENESIS; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HUMAN; MOLECULAR CLONING; PEROXISOME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN TRANSPORT;

EID: 0030667274     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1297-445     Document Type: Article
Times cited : (202)

References (26)
  • 3
    • 0025941962 scopus 로고
    • A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase
    • Swinkels, B.W., Gould, S.J., Bodnar, A.G., Rachubinski, R.A. & Subramani, S. A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase. EMBO J. 10, 3255-3262 (1991).
    • (1991) EMBO J. , vol.10 , pp. 3255-3262
    • Swinkels, B.W.1    Gould, S.J.2    Bodnar, A.G.3    Rachubinski, R.A.4    Subramani, S.5
  • 4
    • 0029879509 scopus 로고    scopus 로고
    • The sorting sequence of the peroxisomal integral membrane protein PMP47 is contained within a short hydrophilic loop
    • Dyer, J.M., McNew, J.A. & Goodman, J.M. The sorting sequence of the peroxisomal integral membrane protein PMP47 is contained within a short hydrophilic loop. J. Cell Biol. 133, 269-280 (1996).
    • (1996) J. Cell Biol. , vol.133 , pp. 269-280
    • Dyer, J.M.1    McNew, J.A.2    Goodman, J.M.3
  • 7
    • 0030946632 scopus 로고    scopus 로고
    • Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata
    • Braverman, N. et al. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nature Genet. 15, 369-376 (1997).
    • (1997) Nature Genet. , vol.15 , pp. 369-376
    • Braverman, N.1
  • 8
    • 0031003680 scopus 로고    scopus 로고
    • Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PT52 receptor
    • Motley, A.M. et al. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PT52 receptor. Nature Genet. 15, 377-380 (1997).
    • (1997) Nature Genet. , vol.15 , pp. 377-380
    • Motley, A.M.1
  • 9
    • 1842335689 scopus 로고    scopus 로고
    • Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7 a homologue of the yeast PTS2 receptor
    • Purdue, P.E., Zhang, J.W., Skoneczny, M. & Lazarow, P.B. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7 a homologue of the yeast PTS2 receptor. Nature Genet. 15, 381-384 (1997).
    • (1997) Nature Genet. , vol.15 , pp. 381-384
    • Purdue, P.E.1    Zhang, J.W.2    Skoneczny, M.3    Lazarow, P.B.4
  • 10
    • 10144261887 scopus 로고    scopus 로고
    • A unified nomenclature for peroxisome biogenesis
    • Distel, B. et al. A unified nomenclature for peroxisome biogenesis. J. Cell Biol. 135, 1-3 (1996).
    • (1996) J. Cell Biol. , vol.135 , pp. 1-3
    • Distel, B.1
  • 11
    • 0027333416 scopus 로고
    • Protein import into peroxisomes and biogenesis of the organelle
    • Subramani, S. Protein import into peroxisomes and biogenesis of the organelle. Annu. Rev. Cell Biol. 9, 445-478 (1993).
    • (1993) Annu. Rev. Cell Biol. , vol.9 , pp. 445-478
    • Subramani, S.1
  • 12
    • 0027168271 scopus 로고
    • The pas8 mutant of Pichia pastoris exhibits the peroxisomal protein import deficiencies of Zellweger syndrome cells: The PASS protein binds to the COOH-terminal tripeptide peroxisomal targeting signal and is a member of the TPR protein family
    • McCollum, D., Monosov, E. & Subramani, S. The pas8 mutant of Pichia pastoris exhibits the peroxisomal protein import deficiencies of Zellweger syndrome cells: the PASS protein binds to the COOH-terminal tripeptide peroxisomal targeting signal and is a member of the TPR protein family. J. Cell Biol. 121, 761-774 (1993).
    • (1993) J. Cell Biol. , vol.121 , pp. 761-774
    • McCollum, D.1    Monosov, E.2    Subramani, S.3
  • 13
    • 0028053931 scopus 로고
    • PAS7 encodes a novel yeast member of the WD-40 protein family essential for import of 3-oxoacyl-CoA thiolase, a PTS2-containing protein, into peroxisomes
    • Marzioch, M., Erdmann, R., Veenhuis, M. & Kunau, W.-H. PAS7 encodes a novel yeast member of the WD-40 protein family essential for import of 3-oxoacyl-CoA thiolase, a PTS2-containing protein, into peroxisomes. EMBO J. 13, 4908-4918 (1994).
    • (1994) EMBO J. , vol.13 , pp. 4908-4918
    • Marzioch, M.1    Erdmann, R.2    Veenhuis, M.3    Kunau, W.-H.4
  • 14
    • 0028817372 scopus 로고
    • Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders
    • Dodt, G. et al. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nature Genet. 9, 115-124 (1995).
    • (1995) Nature Genet. , vol.9 , pp. 115-124
    • Dodt, G.1
  • 15
    • 0025965277 scopus 로고
    • PAS1, a yeast gene required for peroxisome biogenesis, encodes a member of a novel family of putative ATPases
    • Erdmann, R. et al. PAS1, a yeast gene required for peroxisome biogenesis, encodes a member of a novel family of putative ATPases. Cell 64, 499-510 (1991).
    • (1991) Cell , vol.64 , pp. 499-510
    • Erdmann, R.1
  • 16
    • 0028043638 scopus 로고
    • Role of the PAS1 gene of Pchia pastoris in peroxisome biogenesis
    • Heyman, J.A., Mononsov, E. & Subramani, S. Role of the PAS1 gene of Pchia pastoris in peroxisome biogenesis. J. Cell Biol. 127, 1259-1273 (1994).
    • (1994) J. Cell Biol. , vol.127 , pp. 1259-1273
    • Heyman, J.A.1    Mononsov, E.2    Subramani, S.3
  • 17
    • 0027420719 scopus 로고
    • Cloning and characterization of PASS: A gene required for peroxisome biogenesis in the methylotrophic yeast Pichia pastoris
    • Spong, A.P. & Subramani, S. Cloning and characterization of PASS: a gene required for peroxisome biogenesis in the methylotrophic yeast Pichia pastoris. J. Cell Biol. 123, 535-548 (1993).
    • (1993) J. Cell Biol. , vol.123 , pp. 535-548
    • Spong, A.P.1    Subramani, S.2
  • 19
    • 0026849933 scopus 로고
    • Mutations in the 70 K peroxisomal membrane protein gene in Zellweger syndrome
    • Gärtner, J., Moser, H. & Valle, D. Mutations in the 70 K peroxisomal membrane protein gene in Zellweger syndrome. Nature Genet. 1, 16-23 (1992).
    • (1992) Nature Genet. , vol.1 , pp. 16-23
    • Gärtner, J.1    Moser, H.2    Valle, D.3
  • 20
    • 84984767118 scopus 로고    scopus 로고
    • Identification of PAHX as a Refsum disease gene
    • Mihalik, S. et al. Identification of PAHX as a Refsum disease gene. Nature Genet. 17, 185-189 (1997).
    • (1997) Nature Genet. , vol.17 , pp. 185-189
    • Mihalik, S.1
  • 21
    • 0030459304 scopus 로고    scopus 로고
    • Mutliple PEX genes are required for proper subcellular distribution and stability of Pex5p, the PTS1 receptor: Evidence that PTS1 protein import is mediated by a cycling receptor
    • Dodt, G & Gould, S. Mutliple PEX genes are required for proper subcellular distribution and stability of Pex5p, the PTS1 receptor: evidence that PTS1 protein import is mediated by a cycling receptor. J. Cell Biol. 135, 1763-1774 (1996).
    • (1996) J. Cell Biol. , vol.135 , pp. 1763-1774
    • Dodt, G.1    Gould, S.2
  • 22
    • 0029888487 scopus 로고    scopus 로고
    • The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PT51 receptor
    • Yahraus, T. et al. The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PT51 receptor. EMBO J. 15, 2914-2923 (1996).
    • (1996) EMBO J. , vol.15 , pp. 2914-2923
    • Yahraus, T.1
  • 23
    • 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., Valle, D. & Gould, S.I. Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. Nature Genet. 15, 385-388 (1997).
    • (1997) Nature Genet. , vol.15 , pp. 385-388
    • Chang, C.-C.1    Lee, W.-H.2    Moser, H.3    Valle, D.4    Gould, S.I.5
  • 24
    • 0029047855 scopus 로고
    • Identification of three distinct peroxisomal protein import defects in patients with peroxisomal biogenesis disorders
    • Slawecki, M. et al. Identification of three distinct peroxisomal protein import defects in patients with peroxisomal biogenesis disorders. J. Cell Sci. 108, 1817-1829 (1995).
    • (1995) J. Cell Sci. , vol.108 , pp. 1817-1829
    • Slawecki, M.1
  • 25
    • 0025139118 scopus 로고
    • Antibodies directed against the peroxisomal targeting signal of firefly luciferase recognize multiple mammalian peroxisomal proteins
    • Gould, S.J., Krisans, S., Keller, G.A. & Subramani, S. Antibodies directed against the peroxisomal targeting signal of firefly luciferase recognize multiple mammalian peroxisomal proteins. J. Cell Biol. 110, 27-34 (1990).
    • (1990) J. Cell Biol. , vol.110 , pp. 27-34
    • Gould, S.J.1    Krisans, S.2    Keller, G.A.3    Subramani, S.4
  • 26
    • 0026755548 scopus 로고
    • Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine-Δ-aminotransferase gene
    • Michaud, J. et al. Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine-Δ-aminotransferase gene. Genormics 13, 389-394 (1992).
    • (1992) Genormics , vol.13 , pp. 389-394
    • Michaud, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.