BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

181 related articles for article (PubMed ID: 11330043)

  • 1. Temperature sensitivity in peroxisome assembly processes characterizes milder forms of peroxisome biogenesis disorders.
    Osumi T; Imamura A; Tsukamoto T; Fujiwara C; Hashiguchi N; Shimozawa N; Suzuki Y; Kondo N
    Cell Biochem Biophys; 2000; 32 Spring():165-70. PubMed ID: 11330043
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
    Tamura S; Matsumoto N; Imamura A; Shimozawa N; Suzuki Y; Kondo N; Fujiki Y
    Biochem J; 2001 Jul; 357(Pt 2):417-26. PubMed ID: 11439091
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
    Matsumoto N; Tamura S; Furuki S; Miyata N; Moser A; Shimozawa N; Moser HW; Suzuki Y; Kondo N; Fujiki Y
    Am J Hum Genet; 2003 Aug; 73(2):233-46. PubMed ID: 12851857
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.
    Imamura A; Tamura S; Shimozawa N; Suzuki Y; Zhang Z; Tsukamoto T; Orii T; Kondo N; Osumi T; Fujiki Y
    Hum Mol Genet; 1998 Dec; 7(13):2089-94. PubMed ID: 9817926
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pharmacological induction of peroxisomes in peroxisome biogenesis disorders.
    Wei H; Kemp S; McGuinness MC; Moser AB; Smith KD
    Ann Neurol; 2000 Mar; 47(3):286-96. PubMed ID: 10716247
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans.
    Imamura A; Shimozawa N; Suzuki Y; Zhang Z; Tsukamoto T; Fujiki Y; Orii T; Osumi T; Kondo N
    Brain Dev; 2000 Jan; 22(1):8-12. PubMed ID: 10761827
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.
    Walter C; Gootjes J; Mooijer PA; Portsteffen H; Klein C; Waterham HR; Barth PG; Epplen JT; Kunau WH; Wanders RJ; Dodt G
    Am J Hum Genet; 2001 Jul; 69(1):35-48. PubMed ID: 11389485
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genotype-phenotype correlations in disorders of peroxisome biogenesis.
    Moser HW
    Mol Genet Metab; 1999 Oct; 68(2):316-27. PubMed ID: 10527683
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder.
    Fujiwara C; Imamura A; Hashiguchi N; Shimozawa N; Suzuki Y; Kondo N; Imanaka T; Tsukamoto T; Osumi T
    J Biol Chem; 2000 Nov; 275(47):37271-7. PubMed ID: 10960480
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Peroxisome biogenesis disorders: molecular basis for impaired peroxisomal membrane assembly: in metabolic functions and biogenesis of peroxisomes in health and disease.
    Fujiki Y; Yagita Y; Matsuzaki T
    Biochim Biophys Acta; 2012 Sep; 1822(9):1337-42. PubMed ID: 22705440
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.
    Furuki S; Tamura S; Matsumoto N; Miyata N; Moser A; Moser HW; Fujiki Y
    J Biol Chem; 2006 Jan; 281(3):1317-23. PubMed ID: 16257970
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.
    Shimozawa N; Suzuki Y; Zhang Z; Imamura A; Toyama R; Mukai S; Fujiki Y; Tsukamoto T; Osumi T; Orii T; Wanders RJ; Kondo N
    Hum Mol Genet; 1999 Jun; 8(6):1077-83. PubMed ID: 10332040
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Peroxisome Biogenesis Disorders.
    Honsho M; Okumoto K; Tamura S; Fujiki Y
    Adv Exp Med Biol; 2020; 1299():45-54. PubMed ID: 33417206
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
    Suzuki Y; Shimozawa N; Imamura A; Fukuda S; Zhang Z; Orii T; Kondo N
    J Inherit Metab Dis; 2001 Apr; 24(2):151-65. PubMed ID: 11405337
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.
    Gootjes J; Schmohl F; Mooijer PA; Dekker C; Mandel H; Topcu M; Huemer M; Von Schütz M; Marquardt T; Smeitink JA; Waterham HR; Wanders RJ
    Hum Mutat; 2004 Aug; 24(2):130-9. PubMed ID: 15241794
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.
    Shimozawa N; Imamura A; Zhang Z; Suzuki Y; Orii T; Tsukamoto T; Osumi T; Fujiki Y; Wanders RJ; Besley G; Kondo N
    J Med Genet; 1999 Oct; 36(10):779-81. PubMed ID: 10528859
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
    Gootjes J; Elpeleg O; Eyskens F; Mandel H; Mitanchez D; Shimozawa N; Suzuki Y; Waterham HR; Wanders RJ
    Pediatr Res; 2004 Mar; 55(3):431-6. PubMed ID: 14630978
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.
    Maxwell MA; Allen T; Solly PB; Svingen T; Paton BC; Crane DI
    Hum Mutat; 2002 Nov; 20(5):342-51. PubMed ID: 12402331
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.
    Shimozawa N; Nagase T; Takemoto Y; Ohura T; Suzuki Y; Kondo N
    Am J Med Genet A; 2003 Jul; 120A(1):40-3. PubMed ID: 12794690
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1.
    Imamura A; Shimozawa N; Suzuki Y; Zhang Z; Tsukamoto T; Fujiki Y; Orii T; Osumi T; Wanders RJ; Kondo N
    Pediatr Res; 2000 Oct; 48(4):541-5. PubMed ID: 11004248
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.