PEX1
PEX1 (Peroxisomal biogenesis factor 1) هوَ بروتين يُشَفر بواسطة جين PEX1 في الإنسان.[1][1]
الوظيفة
المراجع
- "Entrez Gene: PEX1 peroxisome biogenesis factor 1". مؤرشف من الأصل في 2010-12-05.
قراءة متعمقة
- Wanders RJ (2004). "Metabolic and molecular basis of peroxisomal disorders: a review". Am. J. Med. Genet. A. ج. 126 ع. 4: 355–75. DOI:10.1002/ajmg.a.20661. PMID:15098234.
- Crane DI، Maxwell MA، Paton BC (2006). "PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders". Hum. Mutat. ج. 26 ع. 3: 167–75. DOI:10.1002/humu.20211. PMID:16086329.
- Naritomi K، Izumikawa Y، Ohshiro S، وآخرون (1990). "Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7". Hum. Genet. ج. 84 ع. 1: 79–80. DOI:10.1007/BF00210677. PMID:2606480.
- Reuber BE، Germain-Lee E، Collins CS، وآخرون (1997). "Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders". Nat. Genet. ج. 17 ع. 4: 445–8. DOI:10.1038/ng1297-445. PMID:9398847.
- Portsteffen H، Beyer A، Becker E، وآخرون (1997). "Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders". Nat. Genet. ج. 17 ع. 4: 449–52. DOI:10.1038/ng1297-449. PMID:9398848.
- Faber KN، Heyman JA، Subramani S (1998). "Two AAA family peroxins, PpPex1p and PpPex6p, interact with each other in an ATP-dependent manner and are associated with different subcellular membranous structures distinct from peroxisomes". Mol. Cell. Biol. ج. 18 ع. 2: 936–43. PMC:108805. PMID:9447990.
- Tamura S، Okumoto K، Toyama R، وآخرون (1998). "Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I." Proc. Natl. Acad. Sci. U.S.A. ج. 95 ع. 8: 4350–5. Bibcode:1998PNAS...95.4350T. DOI:10.1073/pnas.95.8.4350. PMC:22492. PMID:9539740.
- Tamura S، Shimozawa N، Suzuki Y، وآخرون (1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p". Biochem. Biophys. Res. Commun. ج. 245 ع. 3: 883–6. DOI:10.1006/bbrc.1998.8522. PMID:9588209.
- Geisbrecht BV، Collins CS، Reuber BE، Gould SJ (1998). "Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease". Proc. Natl. Acad. Sci. U.S.A. ج. 95 ع. 15: 8630–5. Bibcode:1998PNAS...95.8630G. DOI:10.1073/pnas.95.15.8630. PMC:21127. PMID:9671729.
- Collins CS، Gould SJ (1999). "Identification of a common PEX1 mutation in Zellweger syndrome". Hum. Mutat. ج. 14 ع. 1: 45–53. DOI:10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J. PMID:10447258.
- Tamura S، Matsumoto N، Imamura A، وآخرون (2001). "Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction". Biochem. J. ج. 357 ع. Pt 2: 417–26. DOI:10.1042/0264-6021:3570417. PMC:1221968. PMID:11439091.
- Preuss N، Brosius U، Biermanns M، وآخرون (2002). "PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease". Pediatr. Res. ج. 51 ع. 6: 706–14. DOI:10.1203/00006450-200206000-00008. PMID:12032265.
- Maxwell MA، Allen T، Solly PB، وآخرون (2003). "Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients". Hum. Mutat. ج. 20 ع. 5: 342–51. DOI:10.1002/humu.10128. PMID:12402331.
- Scherer SW، Cheung J، MacDonald JR، وآخرون (2003). "Human chromosome 7: DNA sequence and biology". Science. ج. 300 ع. 5620: 767–72. Bibcode:2003Sci...300..767S. DOI:10.1126/science.1083423. PMC:2882961. PMID:12690205.
- Matsumoto N، Tamura S، Fujiki Y (2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes". Nat. Cell Biol. ج. 5 ع. 5: 454–60. DOI:10.1038/ncb982. PMID:12717447.
- Dodt G، Walter C (2004). "Study of mutant proteins with folding defects in cultured patient cells". Methods Mol. Biol. ج. 232: 165–73. DOI:10.1385/1-59259-394-1:165. ISBN:1-59259-394-1. PMID:12840548.
{{استشهاد بدورية محكمة}}: الوسيط|الفصل=تم تجاهله (مساعدة) - Hillier LW، Fulton RS، Fulton LA، وآخرون (2003). "The DNA sequence of human chromosome 7". Nature. ج. 424 ع. 6945: 157–64. Bibcode:2003Natur.424..157H. DOI:10.1038/nature01782. PMID:12853948.
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