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A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities.

作者信息

Wanders R J, van Roermund C W, Schelen A, Schutgens R B, Tager J M, Stephenson J B, Clayton P T

机构信息

Department of Paediatrics, University Hospital Amsterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 1990;13(3):375-9. doi: 10.1007/BF01799399.

DOI:10.1007/BF01799399
PMID:2122104
Abstract
摘要

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1
A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities.一种具有酶活性缺陷的双功能蛋白:利用新型方法测量过氧化物酶体β-氧化酶活性鉴定一种新的过氧化物酶体疾病。
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2
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D-hydroxyacyl-CoA dehydrogenase deficiency. Identification of a new peroxisomal disorder with implications for other disorders of beta-oxidation.D-羟酰基辅酶A脱氢酶缺乏症。一种新的过氧化物酶体疾病的鉴定及其对其他β-氧化障碍疾病的意义。
Adv Exp Med Biol. 1999;466:365-9.
5
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Ann N Y Acad Sci. 1996 Dec 27;804:750-1. doi: 10.1111/j.1749-6632.1996.tb18690.x.
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Complementation analysis of fibroblasts from peroxisomal fatty acid oxidation deficient patients shows high frequency of bifunctional enzyme deficiency plus intragenic complementation: unequivocal evidence for differential defects in the same enzyme protein.对过氧化物酶体脂肪酸氧化缺陷患者的成纤维细胞进行互补分析,结果显示双功能酶缺陷和基因内互补的频率很高:这是同一酶蛋白存在不同缺陷的确凿证据。
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Peroxisomal bifunctional enzyme complex deficiency with associated retinal findings.过氧化物酶体双功能酶复合物缺乏症伴相关视网膜表现。
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Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation.对过氧化物酶体完整但过氧化物酶体β-氧化受损的患者进行互补分析。
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Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA.

本文引用的文献

1
Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity.一名具有X连锁肾上腺脑白质营养不良生化特征女孩的新生儿惊厥和智力发育迟缓:一种可能的新的过氧化物酶体疾病实体。
Neurology. 1988 Jul;38(7):1100-7. doi: 10.1212/wnl.38.7.1100.
2
Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation.“假性齐-韦二氏”综合征中的胆汁酸分析;过氧化物酶体β氧化缺陷的线索
J Inherit Metab Dis. 1988;11 Suppl 2:165-8. doi: 10.1007/BF01804226.
3
Peroxisomal bifunctional enzyme deficiency.
人过氧化物酶体烯酰辅酶A水合酶:3-羟酰基辅酶A脱氢酶cDNA的氨基酸和核苷酸序列
J Inherit Metab Dis. 1998 Feb;21(1):23-8. doi: 10.1023/a:1005355112975.
4
D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.D-3-羟酰基辅酶A脱水酶/D-3-羟酰基辅酶A脱氢酶双功能蛋白缺乏症:一种新发现的过氧化物酶体疾病。
Am J Hum Genet. 1997 Nov;61(5):1153-62. doi: 10.1086/301599.
5
Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.测定绒毛膜绒毛样本、血细胞和培养细胞中的磷酸二羟丙酮酰基转移酶(DHAPAT)。
J Inherit Metab Dis. 1995;18 Suppl 1:90-100. doi: 10.1007/BF00711432.
6
Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts.培养的人皮肤成纤维细胞中过氧化物酶体脂肪酸β-氧化的测定
J Inherit Metab Dis. 1995;18 Suppl 1:113-24. doi: 10.1007/BF00711434.
7
Isolated defect of peroxisomal beta-oxidation in a 16-year-old patient.一名16岁患者的过氧化物酶体β氧化单独缺陷
Eur J Pediatr. 1993 Apr;152(4):339-42. doi: 10.1007/BF01956749.
8
Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis.过氧化物酶体酰基辅酶A氧化酶缺乏症和双功能酶缺乏症的新型亚型,伴有可检测到的酶蛋白:通过互补分析进行鉴定。
Am J Hum Genet. 1994 Jan;54(1):36-43.
9
Very long chain fatty acids in higher animals--a review.高等动物中的极长链脂肪酸——综述
Lipids. 1995 Jan;30(1):1-14. doi: 10.1007/BF02537036.
10
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients.
J Inherit Metab Dis. 1991;14(3):325-8. doi: 10.1007/BF01811694.
过氧化物酶体双功能酶缺乏症
J Clin Invest. 1989 Mar;83(3):771-7. doi: 10.1172/JCI113956.
4
The inborn errors of peroxisomal beta-oxidation: a review.过氧化物酶体β-氧化的先天性代谢缺陷:综述
J Inherit Metab Dis. 1990;13(1):4-36. doi: 10.1007/BF01799330.