Genetic basis of peroxisome-assembly mutants of humans, Chinese hamster ovary cells, and yeast: identification of a new complementation group of peroxisome-biogenesis disorders apparently lacking peroxisomal-membrane ghosts.
作者信息
Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Kondo N, Kinoshita N, Fujiki Y, Tsukamoto T, Osumi T, Imanaka T, Orii T, Beemer F, Mooijer P, Dekker C, Wanders R J
出版信息
Am J Hum Genet. 1998 Dec;63(6):1898-903. doi: 10.1086/302142.
Abstract
摘要
相似文献
1
Genetic basis of peroxisome-assembly mutants of humans, Chinese hamster ovary cells, and yeast: identification of a new complementation group of peroxisome-biogenesis disorders apparently lacking peroxisomal-membrane ghosts.人类、中国仓鼠卵巢细胞和酵母的过氧化物酶体组装突变体的遗传基础：一种新的过氧化物酶体生物发生障碍互补组的鉴定，该互补组显然缺乏过氧化物酶体膜空壳。
Am J Hum Genet. 1998 Dec;63(6):1898-903. doi: 10.1086/302142.
2
Isolation and characterization of peroxisome-deficient Chinese hamster ovary cell mutants representing human complementation group III.代表人类互补群III的过氧化物酶体缺陷型中国仓鼠卵巢细胞突变体的分离与鉴定。
Exp Cell Res. 1997 May 25;233(1):11-20. doi: 10.1006/excr.1997.3552.
3
Newly identified Chinese hamster ovary cell mutants are defective in biogenesis of peroxisomal membrane vesicles (Peroxisomal ghosts), representing a novel complementation group in mammals.新鉴定出的中国仓鼠卵巢细胞突变体在过氧化物酶体膜囊泡（过氧化物酶体空壳）的生物合成过程中存在缺陷，代表了哺乳动物中的一个新互补群。
J Biol Chem. 1998 Sep 11;273(37):24122-30. doi: 10.1074/jbc.273.37.24122.
4
Newly identified Chinese hamster ovary cell mutants defective in peroxisome assembly represent complementation group A of human peroxisome biogenesis disorders and one novel group in mammals.新鉴定出的在过氧化物酶体组装方面存在缺陷的中国仓鼠卵巢细胞突变体代表人类过氧化物酶体生物发生障碍的互补群A以及哺乳动物中的一个新群。
Exp Cell Res. 1999 May 1;248(2):482-8. doi: 10.1006/excr.1999.4412.
5
Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.PEX13中的无义突变和温度敏感突变是过氧化物酶体生物发生障碍互补组H的病因。
Hum Mol Genet. 1999 Jun;8(6):1077-83. doi: 10.1093/hmg/8.6.1077.
6
Chinese hamster ovary cell mutants defective in peroxisome biogenesis. Comparison to Zellweger syndrome.在过氧化物酶体生物发生方面存在缺陷的中国仓鼠卵巢细胞突变体。与泽尔韦格综合征的比较。
J Biol Chem. 1989 Dec 25;264(36):21872-8.
7
Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome.动物细胞突变体代表了过氧化物酶体缺陷型 Zellweger 综合征的两个互补群。
J Clin Invest. 1992 Nov;90(5):1864-70. doi: 10.1172/JCI116063.
8
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.过氧化物酶体生物发生障碍新互补群的鉴定及突变基因为PEX14
Hum Mutat. 2004 Jun;23(6):552-8. doi: 10.1002/humu.20032.
9
10
PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.PEX3是导致G互补群过氧化物酶体膜组装缺陷型泽尔韦格综合征的致病基因。
Am J Hum Genet. 2000 Oct;67(4):976-81. doi: 10.1086/303086. Epub 2000 Aug 31.
引用本文的文献
1
Molecular and clinical aspects of peroxisomal diseases.过氧化物酶体疾病的分子与临床研究
J Inherit Metab Dis. 2007 Apr;30(2):193-7. doi: 10.1007/s10545-007-0516-z. Epub 2007 Mar 8.
2
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.一种新发现的涉及2p15 - 16.1的微缺失综合征的临床和分子细胞遗传学特征
J Med Genet. 2007 Apr;44(4):269-76. doi: 10.1136/jmg.2006.045013. Epub 2006 Sep 8.
3
Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.PEX1缺陷互补组1过氧化物酶体生物发生障碍中的表型-基因型关系由Pex1p-Pex6p相互作用定义。
Biochem J. 2001 Jul 15;357(Pt 2):417-26. doi: 10.1042/0264-6021:3570417.
4
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.过氧化物酶体生物发生障碍的临床、生化和遗传学方面以及神经元迁移
J Inherit Metab Dis. 2001 Apr;24(2):151-65. doi: 10.1023/a:1010310816743.
5
PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.PEX3是导致G互补群过氧化物酶体膜组装缺陷型泽尔韦格综合征的致病基因。
Am J Hum Genet. 2000 Oct;67(4):976-81. doi: 10.1086/303086. Epub 2000 Aug 31.
6
Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.人类PEX3基因突变导致过氧化物酶体膜合成缺陷，引发泽尔韦格综合征G型。
Am J Hum Genet. 2000 Oct;67(4):967-75. doi: 10.1086/303071. Epub 2000 Aug 24.
7
The peroxin pex3p initiates membrane assembly in peroxisome biogenesis.过氧化物酶体生物发生因子3（pex3p）在过氧化物酶体生物合成中启动膜组装。
Mol Biol Cell. 2000 Jun;11(6):2085-102. doi: 10.1091/mbc.11.6.2085.
8
Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.人类PEX19：通过功能互补进行cDNA克隆、对一名齐-韦二氏综合征患者的突变分析以及在过氧化物酶体膜组装中的潜在作用。
Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2116-21. doi: 10.1073/pnas.96.5.2116.
9
Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.PEX16基因的突变是导致过氧化物酶体缺陷的D型互补组泽尔韦格综合征的原因。
Am J Hum Genet. 1998 Dec;63(6):1622-30. doi: 10.1086/302161.
Zotero 插件