Zellweger syndrome
Definition:
References:
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[1]. A C Muntau, et al. Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G. Am J Hum Genet. 2000 Oct;67(4):967-75. [Content Brief]
[2]. C Walter, et al. Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. Am J Hum Genet. 2001 Jul;69(1):35-48. [Content Brief]
[3]. Jeannette Gootjes, et al. Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. Pediatr Res. 2004 Mar;55(3):431-6. [Content Brief]
[4]. K Okumoto, et al. Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. Hum Mol Genet. 1998 Sep;7(9):1399-405. [Content Brief]
[5]. K Okumoto, et al. PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p. Mol Cell Biol. 1998 Jul;18(7):4324-36. [Content Brief]
[6]. M Honsho, et al. Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. Am J Hum Genet. 1998 Dec;63(6):1622-30. [Content Brief]
[7]. N Shimozawa, et al. Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients. Biochem Biophys Res Commun. 1999 Aug 27;262(2):504-8. [Content Brief]
[8]. N Shimozawa, et al. Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. Hum Mol Genet. 1999 Jun;8(6):1077-83. [Content Brief]
[9]. Naomi Matsumoto, et al. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Am J Hum Genet. 2003 Aug;73(2):233-46. [Content Brief]
[10]. Ronald J A Wanders, et al. Metabolic and molecular basis of peroxisomal disorders: a review. Am J Med Genet A. 2004 May 1;126A(4):355-75. [Content Brief]
[11]. S J Huybrechts, et al. Identification of a novel PEX14 mutation in Zellweger syndrome. J Med Genet. 2008 Jun;45(6):376-83. [Content Brief]
[12]. U Brosius, et al. Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders. Cell Mol Life Sci. 2002 Jun;59(6):1058-69. [Content Brief]
[13]. Y Matsuzono, et al. Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2116-21. [Content Brief]
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