BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

198 related articles for article (PubMed ID: 9671729)

  • 1. Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.
    Geisbrecht BV; Collins CS; Reuber BE; Gould SJ
    Proc Natl Acad Sci U S A; 1998 Jul; 95(15):8630-5. PubMed ID: 9671729
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype.
    Maxwell MA; Nelson PV; Chin SJ; Paton BC; Carey WF; Crane DI
    Hum Genet; 1999; 105(1-2):38-44. PubMed ID: 10480353
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.
    Schieferdecker A; Wendler P
    Int J Mol Sci; 2019 Aug; 20(15):. PubMed ID: 31374812
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis.
    Judy RM; Sheedy CJ; Gardner BM
    Cells; 2022 Jun; 11(13):. PubMed ID: 35805150
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The peroxisomal AAA-ATPase Pex1/Pex6 unfolds substrates by processive threading.
    Gardner BM; Castanzo DT; Chowdhury S; Stjepanovic G; Stefely MS; Hurley JH; Lander GC; Martin A
    Nat Commun; 2018 Jan; 9(1):135. PubMed ID: 29321502
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.
    Poll-The BT; Gootjes J; Duran M; De Klerk JB; Wenniger-Prick LJ; Admiraal RJ; Waterham HR; Wanders RJ; Barth PG
    Am J Med Genet A; 2004 May; 126A(4):333-8. PubMed ID: 15098231
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
    Smith CE; Poulter JA; Levin AV; Capasso JE; Price S; Ben-Yosef T; Sharony R; Newman WG; Shore RC; Brookes SJ; Mighell AJ; Inglehearn CF
    Eur J Hum Genet; 2016 Nov; 24(11):1565-1571. PubMed ID: 27302843
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms.
    Maxwell MA; Leane PB; Paton BC; Crane DI
    Hum Mutat; 2005 Sep; 26(3):279. PubMed ID: 16088892
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids.
    MacLean GE; Argyriou C; Di Pietro E; Sun X; Birjandian S; Saberian P; Hacia JG; Braverman NE
    J Cell Biochem; 2019 Mar; 120(3):3243-3258. PubMed ID: 30362618
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.
    Hiebler S; Masuda T; Hacia JG; Moser AB; Faust PL; Liu A; Chowdhury N; Huang N; Lauer A; Bennett J; Watkins PA; Zack DJ; Braverman NE; Raymond GV; Steinberg SJ
    Mol Genet Metab; 2014 Apr; 111(4):522-532. PubMed ID: 24503136
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The N1 domain of the peroxisomal AAA-ATPase Pex6 is required for Pex15 binding and proper assembly with Pex1.
    Ali BA; Judy RM; Chowdhury S; Jacobsen NK; Castanzo DT; Carr KL; Richardson CD; Lander GC; Martin A; Gardner BM
    J Biol Chem; 2024 Jan; 300(1):105504. PubMed ID: 38036174
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. The Pex1/Pex6 complex is a heterohexameric AAA+ motor with alternating and highly coordinated subunits.
    Gardner BM; Chowdhury S; Lander GC; Martin A
    J Mol Biol; 2015 Mar; 427(6 Pt B):1375-1388. PubMed ID: 25659908
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A
    Gonzalez KL; Ratzel SE; Burks KH; Danan CH; Wages JM; Zolman BK; Bartel B
    Proc Natl Acad Sci U S A; 2018 Apr; 115(14):E3163-E3172. PubMed ID: 29555730
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.
    Matsumoto N; Tamura S; Fujiki Y
    Nat Cell Biol; 2003 May; 5(5):454-60. PubMed ID: 12717447
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.