Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.
作者信息
Shimozawa N, Suzuki Y, Orii T, Moser A, Moser H W, Wanders R J
出版信息
Am J Hum Genet. 1993 Apr;52(4):843-4.
Abstract
摘要
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Complementation analysis of peroxisomal disorders and classical Refsum.过氧化物酶体疾病与经典型雷夫叙姆病的互补分析
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Update on genetic and molecular investigations of diseases with general impairment of peroxisomal functions.过氧化物酶体功能普遍受损疾病的遗传与分子研究进展
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A human gene responsible for Zellweger syndrome that affects peroxisome assembly.
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Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.脑肝肾（泽尔韦格）综合征及其他伴有过氧化物酶体功能普遍受损的遗传性疾病中的遗传异质性。一项采用互补分析的研究。
J Clin Invest. 1988 Jun;81(6):1710-5. doi: 10.1172/JCI113510.
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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。
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Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.PEX1-PEX6相互作用的破坏是神经疾病泽韦格综合征、新生儿肾上腺脑白质营养不良和婴儿型Refsum病最常见的病因。
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Targeted deletion of the PEX2 peroxisome assembly gene in mice provides a model for Zellweger syndrome, a human neuronal migration disorder.在小鼠中靶向删除PEX2过氧化物酶体组装基因，为人类神经元迁移障碍——泽尔韦格综合征提供了一个模型。
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Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome.未发现突变引发了对70-kD过氧化物酶体膜蛋白在泽尔韦格综合征中作用的质疑。
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DNA diagnosis of X-linked adrenoleukodystrophy.X连锁肾上腺脑白质营养不良的DNA诊断
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本文引用的文献
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Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients.过氧化物酶体生物发生障碍中的遗传和表型异质性——一项涉及19名患者细胞系的互补研究。
Pediatr Res. 1989 Jul;26(1):67-72. doi: 10.1203/00006450-198907000-00019.
2
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.脑肝肾（泽尔韦格）综合征及其他伴有过氧化物酶体功能普遍受损的遗传性疾病中的遗传异质性。一项采用互补分析的研究。
J Clin Invest. 1988 Jun;81(6):1710-5. doi: 10.1172/JCI113510.
3
A human gene responsible for Zellweger syndrome that affects peroxisome assembly.
Science. 1992 Feb 28;255(5048):1132-4. doi: 10.1126/science.1546315.
4
Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells.通过免疫荧光染色对过氧化物酶体缺陷疾病进行互补研究及融合细胞的表征
Hum Genet. 1992 Mar;88(5):491-9. doi: 10.1007/BF00219334.
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