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过氧化物酶体组装缺陷：新鉴定互补组中两名患者的临床、病理和生化发现

Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.

作者信息

Poulos A, Christodoulou J, Chow C W, Goldblatt J, Paton B C, Orii T, Suzuki Y, Shimozawa N

机构信息

Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, South Australia.

出版信息

J Pediatr. 1995 Oct;127(4):596-9. doi: 10.1016/s0022-3476(95)70121-4.

DOI:10.1016/s0022-3476(95)70121-4
PMID:7562283
Abstract

We describe the clinical, pathologic, and biochemical findings for two peroxisome-deficient patients in a newly identified complementation group. Both patients had biochemical findings typical of patients with peroxisome biogenesis disorders. However, whereas one patient had the typical clinicopathologic features of Zellweger syndrome, the other patient's phenotype was atypical.

摘要

我们描述了新确定的一个互补群中两名过氧化物酶体缺陷患者的临床、病理和生化检查结果。两名患者均有过氧化物酶体生物发生障碍患者典型的生化检查结果。然而，其中一名患者具有典型的泽尔韦格综合征临床病理特征，另一名患者的表型则不典型。

相似文献

1
Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.过氧化物酶体组装缺陷：新鉴定互补组中两名患者的临床、病理和生化发现
J Pediatr. 1995 Oct;127(4):596-9. doi: 10.1016/s0022-3476(95)70121-4.
2
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.
3
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.
4
Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival.伴有轻度生化紊乱和长期存活的非典型PEX16过氧化物酶体生物发生障碍
Brain Dev. 2019 Jan;41(1):57-65. doi: 10.1016/j.braindev.2018.07.015. Epub 2018 Aug 2.
5
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.
6
Disorders of peroxisome biogenesis: complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency).过氧化物酶体生物发生障碍：互补分析显示存在遗传异质性，其中一组（PEX1缺乏）明显过度。
J Inherit Metab Dis. 1999 May;22(3):314-8. doi: 10.1023/a:1005504104541.
7
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.
8
Late onset white matter disease in peroxisome biogenesis disorder.过氧化物酶体生物发生障碍中的迟发性白质病
Neurology. 2001 Dec 11;57(11):1949-55. doi: 10.1212/wnl.57.11.1949.
9
Peroxisomal disorders: clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families.过氧化物酶体疾病：15例儿童的临床与生化研究及7个家庭的产前诊断
Am J Med Genet. 1999 Aug 27;85(5):502-10.
10
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.过氧化物酶体生物发生障碍互补组7中缺陷基因PEX10的鉴定。
Am J Hum Genet. 1998 Aug;63(2):347-59. doi: 10.1086/301963.

引用本文的文献

1
Quantitative Proteomics and Differential Protein Abundance Analysis after the Depletion of PEX3 from Human Cells Identifies Additional Aspects of Protein Targeting to the ER.定量蛋白质组学和 PEX3 耗尽后人细胞中差异蛋白丰度分析鉴定 ER 蛋白靶向的其他方面。
Int J Mol Sci. 2021 Dec 1;22(23):13028. doi: 10.3390/ijms222313028.
2
Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a defect: Case report and literature review.基因组测序鉴定出一例由缺陷导致的罕见中度泽尔韦格谱系障碍病例：病例报告及文献综述。
Mol Genet Metab Rep. 2020 Oct 19;25:100664. doi: 10.1016/j.ymgmr.2020.100664. eCollection 2020 Dec.
3
Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails.
泽尔韦格综合征伴不典型表现：非免疫性胎儿水肿、皮肤红细胞生成和小趾甲发育不良。
J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S345-8. doi: 10.1007/s10545-009-9010-0. Epub 2009 Dec 23.
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
Inhibitors of COPI and COPII do not block PEX3-mediated peroxisome synthesis.COPI和COPII的抑制剂不会阻断PEX3介导的过氧化物酶体合成。
J Cell Biol. 2000 Jun 26;149(7):1345-60. doi: 10.1083/jcb.149.7.1345.
8
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.
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.
10
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.PEX12，III型泽尔韦格综合征的致病基因：通过对CHO细胞突变体进行功能互补克隆cDNA、患者分析及PEX12p的特性研究
Mol Cell Biol. 1998 Jul;18(7):4324-36. doi: 10.1128/MCB.18.7.4324.