223 related articles for article (PubMed ID: 9817926)
1. 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]
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. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.
Crane DI; Maxwell MA; Paton BC
Hum Mutat; 2005 Sep; 26(3):167-75. PubMed ID: 16086329
[TBL] [Abstract][Full Text] [Related]
18. 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]
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. 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]
[Next] [New Search]