These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
23. 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]
24. 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]
25. Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. Gootjes J; Schmohl F; Waterham HR; Wanders RJ Eur J Hum Genet; 2004 Feb; 12(2):115-20. PubMed ID: 14571262 [TBL] [Abstract][Full Text] [Related]
26. 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]
27. Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. Krause C; Rosewich H; Thanos M; Gärtner J Hum Mutat; 2006 Nov; 27(11):1157. PubMed ID: 17041890 [TBL] [Abstract][Full Text] [Related]
29. Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. Gärtner J; Preuss N; Brosius U; Biermanns M J Inherit Metab Dis; 1999 May; 22(3):311-3. PubMed ID: 10384394 [No Abstract] [Full Text] [Related]
30. Identification of a novel PEX14 mutation in Zellweger syndrome. Huybrechts SJ; Van Veldhoven PP; Hoffman I; Zeevaert R; de Vos R; Demaerel P; Brams M; Jaeken J; Fransen M; Cassiman D J Med Genet; 2008 Jun; 45(6):376-83. PubMed ID: 18285423 [TBL] [Abstract][Full Text] [Related]
31. 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]
35. Two polymorphic mutations (c2331A>C and IVS11+142insAGAAATTTTAAGTCTT) in the human peroxin 1 gene (PEX1). Preuss N; Gärtner J Hum Mutat; 2001 Apr; 17(4):353. PubMed ID: 11295839 [No Abstract] [Full Text] [Related]
36. Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics. Liang JS; Hung KL; Lin LJ; Ong WP; Keng WT; Lu JF Epilepsy Behav; 2023 Aug; 145():109266. PubMed ID: 37385119 [TBL] [Abstract][Full Text] [Related]
37. A temperature-sensitive CHO pex1 mutant with a novel mutation in the AAA Walker A1 motif. Fan W; Fujiki Y Biochem Biophys Res Commun; 2006 Jul; 345(4):1434-9. PubMed ID: 16723118 [TBL] [Abstract][Full Text] [Related]
38. Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Ebberink MS; Mooijer PA; Gootjes J; Koster J; Wanders RJ; Waterham HR Hum Mutat; 2011 Jan; 32(1):59-69. PubMed ID: 21031596 [TBL] [Abstract][Full Text] [Related]
39. A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders. Mast FD; Li J; Virk MK; Hughes SC; Simmonds AJ; Rachubinski RA Dis Model Mech; 2011 Sep; 4(5):659-72. PubMed ID: 21669930 [TBL] [Abstract][Full Text] [Related]
40. 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; Osumi T; Kondo N; Fujiki Y Proc Natl Acad Sci U S A; 1998 Apr; 95(8):4350-5. PubMed ID: 9539740 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]