| 1 | PEX1, ZWS1
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| Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing.
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| Sun Y, Wang L, Wei X, Zhu Q, Yang Y, Lan Z, Qu N, Chu Y, Wang Y, Yang S, Liang Y, Wang W, Yi X.
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| Clin Chim Acta 417:57-61. doi: 10.1016/j.cca.2012.12.005. Epub 2012 Dec 13.
2013
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| 2 | PEX1, ZWS1
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| Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.
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| Thoms S, Grønborg S, Rabenau J, Ohlenbusch A, Rosewich H, Gärtner J.
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| BMC Med Genet 12:109. doi: 10.1186/1471-2350-12-109.
2011
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| 3 | PEX1, PEX26, PEX6, ZWS1
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| Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds.
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| Zhang R, Chen L, Jiralerspong S, Snowden A, Steinberg S, Braverman N.
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| Proc Natl Acad Sci U S A 107(12):5569-74. Epub 2010 Mar 8. 2010
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| 4 | PEX1, ZWS1
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| Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
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| Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG.
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| Hum Mutat 30(3):E467-80. doi: 10.1002/humu.20932.
2009
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| 5 | PEX1, ZWS1
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| Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p.
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| Tamura S, Yasutake S, Matsumoto N, Fujiki Y.
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| J Biol Chem 281(38):27693-704. Epub 2006 Jul 19.PMID: 16854980 2006
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| 6 | PBD3, PEX1, ZWS1
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| Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.
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| Maxwell MA, Allen T, Solly PB, Svingen T, Paton BC, Crane DI.
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| Hum Mutat 20(5):342-51. 2002
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| 7 | PEX1, ZWS1
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| Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.
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| Walter C, Gootjes J, Mooijer PA, Portsteffen H, Klein C, Waterham HR, Barth PG, Epplen JT, Kunau WH, Wanders RJ, Dodt G.
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| Am J Hum Genet 69(1):35-48. 2001
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| 8 | PEX1, PBD3, ZWS1
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| Identification of a common PEX1 mutation in Zellweger syndrome.
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| Collins CS, et al.
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| Hum Mutat 14(1):45-53. 1999
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| 9 | PEX1, PBD3, ZWS1
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| A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype.
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| Maxwell MA, et al.
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| Hum Genet 105(1-2):38-44. 1999
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| 10 | ABCD4, PBD1, PBD2, PBD3, PBD4, PBD5, PEX1, PEX13, PEX6, PEX7, PEX19, PXMP3, PEX5, RCDP1, ZWS1, ZWS2, ZWS3, IRD7, IRD8, PBD12
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| Genotype-Phenotype Correlations in Disorders of Peroxisome Biogenesis.
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| Moser HW.
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| Mol Genet Metab 68(2):316-327 1999
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| 11 | PBD3, PEX1, ZWS1
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| Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.
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| Tamura S, et al.
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| Proc Natl Acad Sci U S A 95 : 4350-4355. 1998
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| 12 | PEX1, ZWS1
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| Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.
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| Imamura A, et al.
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| Hum Mol Genet 7 : 2089-2094. 1998
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| 13 | PBD3, PEX1, ZWS1
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| Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.
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| Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau WH, Dodt G.
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| Nat Genet 17(4):449-52. 1997
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| 14 | PBD3, PEX1, ZWS1
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| Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.
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| Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW, Valle D, Gould SJ.
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| Nat Genet 17(4):445-8. 1997
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| 15 | PEX1, ZWS1
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| Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7.
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| Naritomi K, Izumikawa Y, Ohshiro S, Yoshida K, Shimozawa N, Suzuki Y, Orii T, Hirayama K.
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| Hum Genet 84(1):79-80. 1989
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