Zellweger syndrome

Definition:

Zellweger syndrome (ZS) is the most severe form seen in the peroxisome biogenesis disorder, characterized by neurological dysfunction, craniofacial abnormalities, eye abnormalities, hepatomegaly, and chondrodysplasia punctata. This disease is caused by mutation of peroxisomal biogenesis factor (PEX) genes. Due to the deficiency of functional peroxisomes, several metabolite abnormalities are usually found in ZS patients. Typically, patients accumulate C27-bile acid intermediates.

References:

[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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