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Genetic heterogeneity in patients with a disorder of peroxisomal beta-oxidation: a complementation study based on pristanic acid beta-oxidation suggesting different enzyme defects.

作者信息

van Grunsven E G, Wanders R J

机构信息

University of Amsterdam, Department of Pediatrics, The Netherlands.

出版信息

J Inherit Metab Dis. 1997 Jul;20(3):437-40. doi: 10.1023/a:1005323221660.

DOI:10.1023/a:1005323221660
PMID:9266375
Abstract
摘要

相似文献

1
Genetic heterogeneity in patients with a disorder of peroxisomal beta-oxidation: a complementation study based on pristanic acid beta-oxidation suggesting different enzyme defects.过氧化物酶体β-氧化紊乱患者的遗传异质性：基于降植烷酸β-氧化的互补研究提示不同的酶缺陷
J Inherit Metab Dis. 1997 Jul;20(3):437-40. doi: 10.1023/a:1005323221660.
2
Pristanic acid beta-oxidation in peroxisomal disorders: studies in cultured human fibroblasts.
Biochim Biophys Acta. 1998 Apr 22;1391(3):351-6. doi: 10.1016/s0005-2760(98)00019-8.
3
Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis.通过酰基肉碱分析对人成纤维细胞中植烷酸和降植烷酸氧化的研究。
J Inherit Metab Dis. 1998 Oct;21(7):753-60. doi: 10.1023/a:1005449200468.
4
Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects.成纤维细胞中降植烷酸的氧化及其在过氧化物酶体β-氧化缺陷诊断中的应用。
J Clin Invest. 1996 Feb 1;97(3):681-8. doi: 10.1172/JCI118465.
5
Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders.A组过氧化物酶体生物发生障碍中温度敏感型酰基辅酶A氧化酶的导入
J Med Genet. 2001 Dec;38(12):871-4. doi: 10.1136/jmg.38.12.871.
6
Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders.患有不同过氧化物酶体疾病患者的过氧化物酶体支链脂肪酸α-和β-氧化系统的立体化学
J Lipid Res. 2002 Mar;43(3):438-44.
7
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.
8
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。
Biochem Biophys Res Commun. 1997 Jun 9;235(1):176-9. doi: 10.1006/bbrc.1997.6755.
9
Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency.成纤维细胞研究记录了一例过氧化物酶体2-甲基酰基辅酶A消旋酶缺乏症病例：消旋酶缺乏与吸收不良及维生素K缺乏之间的可能联系。
Eur J Clin Invest. 2001 Aug;31(8):714-22. doi: 10.1046/j.1365-2362.2001.00877.x.
10
Identification of the newly discovered 58 kDa peroxisomal thiolase SCPx as the main thiolase involved in both pristanic acid and trihydroxycholestanoic acid oxidation: implications for peroxisomal beta-oxidation disorders.新发现的58 kDa过氧化物酶体硫解酶SCPx被鉴定为参与降植烷酸和三羟基胆甾烷酸氧化的主要硫解酶：对过氧化物酶体β-氧化障碍的影响
J Inherit Metab Dis. 1998 Jun;21(3):302-5. doi: 10.1023/a:1005349028853.

引用本文的文献

1
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.再探过氧化物酶体双功能蛋白缺乏症：其真正酶学和分子基础的解析
Am J Hum Genet. 1999 Jan;64(1):99-107. doi: 10.1086/302180.
2
Bifunctional protein deficiency: complementation within the same group suggesting differential enzyme defects and clues to the underlying basis.
J Inherit Metab Dis. 1998 Jun;21(3):298-301. doi: 10.1023/a:1005396912015.

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
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.推测的X连锁肾上腺脑白质营养不良基因与ABC转运蛋白具有意外的同源性。
Nature. 1993 Feb 25;361(6414):726-30. doi: 10.1038/361726a0.
3
The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- and trihydroxycoprostanic acids are oxidized by one single peroxisomal branched chain acyl-CoA oxidase in human liver and kidney.
在人类肝脏和肾脏中，2-甲基支链脂肪酸的辅酶A酯以及胆汁酸中间体二羟基和三羟基粪甾烷酸的辅酶A酯可被一种单一的过氧化物酶体支链酰基辅酶A氧化酶氧化。
J Biol Chem. 1993 May 15;268(14):10335-44.
4
Sterol carrier protein X is peroxisomal 3-oxoacyl coenzyme A thiolase with intrinsic sterol carrier and lipid transfer activity.固醇载体蛋白X是一种过氧化物酶体3-氧代酰基辅酶A硫解酶，具有固有的固醇载体和脂质转运活性。
J Biol Chem. 1994 Aug 19;269(33):21277-83.
5
Peroxisomal beta-oxidation. Purification of four novel 3-hydroxyacyl-CoA dehydrogenases from rat liver peroxisomes.过氧化物酶体β-氧化。从大鼠肝脏过氧化物酶体中纯化四种新型3-羟基酰基辅酶A脱氢酶。
J Biol Chem. 1994 Oct 28;269(43):27125-35.
6
Postnatal diagnosis of peroxisomal disorders: a biochemical approach.过氧化物酶体疾病的产后诊断：一种生化方法。
Biochimie. 1993;75(3-4):269-79. doi: 10.1016/0300-9084(93)90087-9.
7
Peroxisomal disorders: a review.过氧化物酶体疾病：综述
J Neuropathol Exp Neurol. 1995 Sep;54(5):726-39. doi: 10.1097/00005072-199509000-00016.
8
Purification and properties of acyl-CoA oxidase from rat liver.大鼠肝脏酰基辅酶A氧化酶的纯化及性质
J Biochem. 1980 Jun;87(6):1735-46. doi: 10.1093/oxfordjournals.jbchem.a132918.
9
The presence of a new 3-oxoacyl-CoA thiolase in rat liver peroxisomes.大鼠肝脏过氧化物酶体中一种新型3-氧代酰基辅酶A硫解酶的存在。
Eur J Biochem. 1980 Feb;103(3):589-96. doi: 10.1111/j.1432-1033.1980.tb05984.x.
10
Peroxisomal bifunctional enzyme deficiency.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.