Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder
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Al-Dirbashi, 2009, Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations, Am J Med Genet A, 149A, 1219, 10.1002/ajmg.a.32874
Azevedo, 2006, Pex14p, more than just a docking protein, Biochim Biophys Acta, 1763, 1574, 10.1016/j.bbamcr.2006.09.002
Braverman, 2002, Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype, Hum Mutat, 20, 284, 10.1002/humu.10124
Brul, 1988, Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis, J Clin Invest, 81, 1710, 10.1172/JCI113510
Chang, 1998, Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders, Am J Hum Genet, 63, 1294, 10.1086/302103
Chang, 1999, PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import, J Cell Biol, 147, 761, 10.1083/jcb.147.4.761
Collins, 1999, Identification of a common PEX1 mutation in Zellweger syndrome, Hum Mutat, 14, 45, 10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J
Dodt, 1995, Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders, Nat Genet, 9, 115, 10.1038/ng0295-115
Dodt, 2001, Domain mapping of human PEX5 reveals functional and structural similarities to Saccharomyces cerevisiae Pex18p and Pex21p, J Biol Chem, 276, 41769, 10.1074/jbc.M106932200
Dursun, 2009, Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails, J Inherit Metab Dis, 10.1007/s10545-009-9010-0
Ebberink, 2010a, Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene, J Med Genet, 47, 608, 10.1136/jmg.2009.074302
Ebberink, 2010b, Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients, Hum Mutat, 31, E1058, 10.1002/humu.21153
Ebberink, 2009, Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines, Hum Mutat, 30, 93, 10.1002/humu.20833
Gartner, 1999, Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype, J Inherit Metab Dis, 22, 311, 10.1023/A:1005599903632
Ghaedi, 2000, PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G, Am J Hum Genet, 67, 976, 10.1086/303086
Gootjes, 2004a, Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder, Pediatr Res, 55, 431, 10.1203/01.PDR.0000106862.83469.8D
Gootjes, 2003, Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver, Adv Exp Med Biol, 544, 107, 10.1007/978-1-4419-9072-3_15
Gootjes, 2004b, Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism, Hum Mutat, 24, 130, 10.1002/humu.20062
Gootjes, 2004c, Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder, Eur J Hum Genet, 12, 115, 10.1038/sj.ejhg.5201090
Gootjes, 2004d, Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder, Neurology, 62, 2077, 10.1212/01.WNL.0000127576.26352.D1
Grou, 2008, Members of the E2D (UbcH5) family mediate the ubiquitination of the conserved cysteine of Pex5p, the peroxisomal import receptor, J Biol Chem, 283, 14190, 10.1074/jbc.M800402200
Honsho, 1998, Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D, Am J Hum Genet, 63, 1622, 10.1086/302161
Huybrechts, 2008, Identification of a novel PEX14 mutation in Zellweger syndrome, J Med Genet, 45, 376, 10.1136/jmg.2007.056697
Imamura, 1998a, Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders, Hum Mol Genet, 7, 2089, 10.1093/hmg/7.13.2089
Imamura, 1998b, Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders, Am J Hum Genet, 62, 1539, 10.1086/301881
Krause, 2009, Rational diagnostic strategy for Zellweger syndrome spectrum patients, Eur J Hum Genet, 17, 741, 10.1038/ejhg.2008.252
Krause, 2006, Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients, Hum Mutat, 27, 1157, 10.1002/humu.9462
Liu, 1999, PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders, Am J Hum Genet, 65, 621, 10.1086/302534
Matsumoto, 2003a, The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes, Nat Cell Biol, 5, 454, 10.1038/ncb982
Matsumoto, 2003b, Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation, Am J Hum Genet, 73, 233, 10.1086/377004
Matsuzono, 1999, 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 USA, 96, 2116, 10.1073/pnas.96.5.2116
Maxwell, 2002, Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients, Hum Mutat, 20, 342, 10.1002/humu.10128
Maxwell, 2005, Novel PEX1 coding mutations and 5′ UTR regulatory polymorphisms, Hum Mutat, 26, 279, 10.1002/humu.9356
Motley, 2002, Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1, Am J Hum Genet, 70, 612, 10.1086/338998
Muntau, 2000, Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G, Am J Hum Genet, 67, 967, 10.1086/303071
Okumoto, 1997, PEX12 encodes an integral membrane protein of peroxisomes, Nat Genet, 17, 265, 10.1038/ng1197-265
Okumoto, 1998a, Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B, Hum Mol Genet, 7, 1399, 10.1093/hmg/7.9.1399
Okumoto, 1998b, 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, 18, 4324, 10.1128/MCB.18.7.4324
Platta, 2009, Pex2 and pex12 function as protein-ubiquitin ligases in peroxisomal protein import, Mol Cell Biol, 29, 5505, 10.1128/MCB.00388-09
Platta, 2007, The peroxisomal protein import machinery, FEBS Lett, 581, 2811, 10.1016/j.febslet.2007.04.001
Portsteffen, 1997, Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders, Nat Genet, 17, 449, 10.1038/ng1297-449
Preuss, 2002, PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease, Pediatr Res, 51, 706, 10.1203/00006450-200206000-00008
Regal, 2010, Mutations in PEX10 are a cause of autosomal recessive ataxia, Ann Neurol, 68, 259
Reuber, 1997, Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders, Nat Genet, 17, 445, 10.1038/ng1297-445
Rosewich, 2005, Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations, J Med Genet, 42, e58, 10.1136/jmg.2005.033324
Sacksteder, 2000, PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis, J Cell Biol, 148, 931, 10.1083/jcb.148.5.931
Saidowsky, 2001, The di-aromatic pentapeptide repeats of the human peroxisome import receptor PEX5 are separate high affinity binding sites for the peroxisomal membrane protein PEX14, J Biol Chem, 276, 34524, 10.1074/jbc.M104647200
Shimozawa, 2002, A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome, Biochem Biophys Res Commun, 292, 109, 10.1006/bbrc.2002.6642
Shimozawa, 1993, Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect, Am J Hum Genet, 52, 843
Shimozawa, 1998, A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome, Hum Mutat Suppl, 1, S134, 10.1002/humu.1380110145
Shimozawa, 2000a, Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures, Hum Mol Genet, 9, 1995, 10.1093/hmg/9.13.1995
Shimozawa, 1999a, Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders, Hum Mol Genet, 8, 1077, 10.1093/hmg/8.6.1077
Shimozawa, 2004, Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene, Hum Mutat, 23, 552, 10.1002/humu.20032
Shimozawa, 2000b, Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient, Biochem Biophys Res Commun, 268, 31, 10.1006/bbrc.1999.2082
Shimozawa, 1999b, Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients, Biochem Biophys Res Commun, 262, 504, 10.1006/bbrc.1999.1232
South, 1999, Peroxisome synthesis in the absence of preexisting peroxisomes, J Cell Biol, 144, 255, 10.1083/jcb.144.2.255
South, 2000, Inhibitors of COPI and COPII do not block PEX3-mediated peroxisome synthesis, J Cell Biol, 149, 1345, 10.1083/jcb.149.7.1345
Steinberg, 2004, The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum, Mol Genet Metab, 83, 252, 10.1016/j.ymgme.2004.08.008
Steinberg, 2006, Peroxisome biogenesis disorders, Biochim Biophys Acta, 1763, 1733, 10.1016/j.bbamcr.2006.09.010
Steinberg, 2009, A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts, J Inherit Metab Dis, 32, 109, 10.1007/s10545-008-0969-8
Tamura, 2001, Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction, Biochem J, 357, 417, 10.1042/bj3570417
Tamura, 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 USA, 95, 4350, 10.1073/pnas.95.8.4350
van Grunsven, 1999, Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis, Am J Hum Genet, 64, 99, 10.1086/302180
Walter, 2001, Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels, Am J Hum Genet, 69, 35, 10.1086/321265
Wanders, 2005, Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders, Clin Genet, 67, 107, 10.1111/j.1399-0004.2004.00329.x
Wanders, 2006, Biochemistry of mammalian peroxisomes revisited, Annu Rev Biochem, 75, 295, 10.1146/annurev.biochem.74.082803.133329
Warren, 1998, Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders, Am J Hum Genet, 63, 347, 10.1086/301963
Warren, 2000, Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients, Hum Mutat, 15, 509, 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#
Waterham, 2007, A lethal defect of mitochondrial and peroxisomal fission, N Engl J Med, 356, 1736, 10.1056/NEJMoa064436
Weller, 2005, Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis, Am J Hum Genet, 76, 987, 10.1086/430637
Weller, 2003, Peroxisome biogenesis disorders, Annu Rev Genomics Hum Genet, 4, 165, 10.1146/annurev.genom.4.070802.110424
Yik, 2009, Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders, Hum Mutat, 30, E467, 10.1002/humu.20932