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Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin-permeabilized cells.

作者信息

Wanders R J, Ruiter J P, Wijburg F A, Zeman J, Klement P, Houstek J

机构信息

Department of Clinical Biochemistry, University Hospital Amsterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 1996;19(2):133-6. doi: 10.1007/BF01799412.

DOI:10.1007/BF01799412
PMID:8739948
Abstract
摘要

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1
Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin-permeabilized cells.通过研究洋地黄皂苷通透细胞中的ATP合成，对培养的绒毛膜绒毛成纤维细胞呼吸链系统疾病进行产前诊断。
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2
Mitochondrial oxidative phosphorylation in digitonin-permeabilized chorionic villus fibroblasts: a new method with potential for prenatal diagnosis.洋地黄皂苷通透的绒毛膜绒毛成纤维细胞中的线粒体氧化磷酸化：一种具有产前诊断潜力的新方法。
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3
Inhibition of oxidative phosphorylation by palmitoyl-CoA in digitonin permeabilized fibroblasts: implications for long-chain fatty acid beta-oxidation disorders.棕榈酰辅酶A对洋地黄皂苷通透的成纤维细胞氧化磷酸化的抑制作用：对长链脂肪酸β-氧化障碍的影响
Biochim Biophys Acta. 1995 Aug 15;1272(1):14-20. doi: 10.1016/0925-4439(95)00064-b.
4
Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin.利用洋地黄皂苷分离的线粒体，通过蓝色非变性电泳分析培养的人成纤维细胞和羊膜细胞中的氧化磷酸化复合物。
Anal Biochem. 1995 Oct 10;231(1):218-24. doi: 10.1006/abio.1995.1523.
5
Simultaneous detection of mitochondrial respiratory chain activity and reactive oxygen in digitonin-permeabilized cells using flow cytometry.使用流式细胞术同时检测洋地黄皂苷通透细胞中的线粒体呼吸链活性和活性氧。
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6
Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose.通过研究葡萄糖生成乳酸和丙酮酸的过程，对培养的羊膜细胞和绒毛膜绒毛成纤维细胞中的呼吸链系统疾病进行产前诊断。
J Inherit Metab Dis. 1992;15(1):84-91. doi: 10.1007/BF01800349.
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Requirement of ATP for exocytotic release of catecholamines from digitonin-permeabilized adrenal chromaffin cells.从洋地黄皂苷通透处理的肾上腺嗜铬细胞中儿茶酚胺胞吐释放对ATP的需求。
J Neurochem. 1988 Feb;50(2):644-8. doi: 10.1111/j.1471-4159.1988.tb02959.x.
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Iodination of peripheral mitochondrial membrane proteins in correlation to the functional state of the ADP/ATP carrier.外周线粒体膜蛋白的碘化作用与ADP/ATP载体功能状态的相关性
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Biochem J. 2004 Nov 1;383(Pt. 3):561-71. doi: 10.1042/BJ20040407.
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Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi.

本文引用的文献

1
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.
2
Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: application to mitochondrial encephalomyopathies.
Biochim Biophys Acta. 1993 Jun 19;1181(3):219-22. doi: 10.1016/0925-4439(93)90024-u.
3
Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease.NADH辅酶Q还原酶和细胞色素氧化酶中线粒体呼吸链缺陷的临床表现：对Leigh病发病机制的线索
绒毛膜绒毛中呼吸链缺陷产前诊断的先决条件和策略。
J Inherit Metab Dis. 2003;26(7):647-58. doi: 10.1023/b:boli.0000005605.57420.b4.
J Pediatr. 1987 Feb;110(2):216-22. doi: 10.1016/s0022-3476(87)80157-9.
4
Studies on the formation of lactate and pyruvate from glucose in cultured skin fibroblasts: implications for detection of respiratory chain defects.培养的皮肤成纤维细胞中葡萄糖生成乳酸和丙酮酸的研究：对呼吸链缺陷检测的意义
Biochem Int. 1989 Sep;19(3):563-70.
5
The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia.皮肤成纤维细胞培养在检测乳酸血症患者呼吸链缺陷中的应用。
Pediatr Res. 1990 Nov;28(5):549-55. doi: 10.1203/00006450-199011000-00027.
6
Diseases of the mitochondrial DNA.
Annu Rev Biochem. 1992;61:1175-212. doi: 10.1146/annurev.bi.61.070192.005523.
7
Unusual clinical presentation in two boys with cytochrome c oxidase deficiency.
J Inherit Metab Dis. 1992;15(3):320-2. doi: 10.1007/BF02435966.
8
Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose.通过研究葡萄糖生成乳酸和丙酮酸的过程，对培养的羊膜细胞和绒毛膜绒毛成纤维细胞中的呼吸链系统疾病进行产前诊断。
J Inherit Metab Dis. 1992;15(1):84-91. doi: 10.1007/BF01800349.