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5. PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. Preuss N; Brosius U; Biermanns M; Muntau AC; Conzelmann E; Gartner J Pediatr Res; 2002 Jun; 51(6):706-14. PubMed ID: 12032265 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Reuber BE; Germain-Lee E; Collins CS; Morrell JC; Ameritunga R; Moser HW; Valle D; Gould SJ Nat Genet; 1997 Dec; 17(4):445-8. PubMed ID: 9398847 [TBL] [Abstract][Full Text] [Related]
8. 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]
10. Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence. Cho SY; Chang YP; Park JY; Park HD; Sohn YB; Park SW; Kim SH; Ji S; Kim SJ; Choi EW; Kim CH; Ko AR; Paik KH; Jin DK Ann Clin Lab Sci; 2011; 41(2):182-7. PubMed ID: 21844578 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance. Nguyen T; Bjorkman J; Paton BC; Crane DI J Cell Sci; 2006 Feb; 119(Pt 4):636-45. PubMed ID: 16449325 [TBL] [Abstract][Full Text] [Related]
13. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. Portsteffen H; Beyer A; Becker E; Epplen C; Pawlak A; Kunau WH; Dodt G Nat Genet; 1997 Dec; 17(4):449-52. PubMed ID: 9398848 [TBL] [Abstract][Full Text] [Related]
14. Alport syndrome. Molecular genetic aspects. Hertz JM Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Identification of a common PEX1 mutation in Zellweger syndrome. Collins CS; Gould SJ Hum Mutat; 1999; 14(1):45-53. PubMed ID: 10447258 [TBL] [Abstract][Full Text] [Related]
17. The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. Steinberg S; Chen L; Wei L; Moser A; Moser H; Cutting G; Braverman N Mol Genet Metab; 2004 Nov; 83(3):252-63. PubMed ID: 15542397 [TBL] [Abstract][Full Text] [Related]
18. Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders. Zhang Z; Suzuki Y; Shimozawa N; Fukuda S; Imamura A; Tsukamoto T; Osumi T; Fujiki Y; Orii T; Wanders RJ; Barth PG; Moser HW; Paton BC; Besley GT; Kondo N Hum Mutat; 1999; 13(6):487-96. PubMed ID: 10408779 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant. Mohebbi MR; Rush ET; Rizzo WB; Banagale RC J Child Neurol; 2012 Dec; 27(12):1589-92. PubMed ID: 22378672 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]