胆固醇生物合成、过氧化物酶体与过氧化物酶体疾病：甲羟戊酸激酶不仅在泽尔韦格综合征中缺乏，在点状软骨发育不良中也缺乏。 - Suppr

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超能文献

Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.

作者信息

Wanders R J, Romeijn G J

机构信息

University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, The Netherlands.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):309-12. doi: 10.1023/a:1005353129761.

DOI:10.1023/a:1005353129761

PMID:9686383

Abstract

摘要

相似文献

Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.胆固醇生物合成、过氧化物酶体与过氧化物酶体疾病：甲羟戊酸激酶不仅在泽尔韦格综合征中缺乏，在点状软骨发育不良中也缺乏。

J Inherit Metab Dis. 1998 Jun;21(3):309-12. doi: 10.1023/a:1005353129761.

Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis.过氧化物酶体生物发生存在不同缺陷的患者中，甲羟戊酸激酶和磷酸甲羟戊酸激酶的差异性缺乏：过氧化物酶体在胆固醇生物合成中起主要作用的证据

Biochem Biophys Res Commun. 1998 Jun 29;247(3):663-7. doi: 10.1006/bbrc.1998.8836.

Cholesterol biosynthesis in Zellweger syndrome: normal activity of mevalonate kinase, mevalonate-5'-pyrophosphate decarboxylase and IPP-isomerase in patients' fibroblasts but deficient mevalonate kinase activity in liver.齐-韦二氏综合征中的胆固醇生物合成：患者成纤维细胞中甲羟戊酸激酶、甲羟戊酸-5'-焦磷酸脱羧酶和异戊烯焦磷酸异构酶活性正常，但肝脏中甲羟戊酸激酶活性不足。

J Inherit Metab Dis. 1996;19(2):193-6. doi: 10.1007/BF01799427.

Epoxide hydrolase in human and rat peroxisomes: implication for disorders of peroxisomal biogenesis.人和大鼠过氧化物酶体中的环氧水解酶：对过氧化物酶体生物发生障碍的影响。

J Lipid Res. 1996 Jan;37(1):159-67.

Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata.过氧化物酶体3-酮脂酰辅酶A硫解酶在齐-韦二氏综合征和点状软骨发育不良中的异常亚细胞定位。

Pediatr Res. 1990 Mar;27(3):304-10. doi: 10.1203/00006450-199003000-00023.

Cholesterol biosynthesis in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin.过氧化物酶体起源的代谢紊乱患者皮肤成纤维细胞中的胆固醇生物合成。

Eur J Clin Invest. 1995 Jan;25(1):59-67. doi: 10.1111/j.1365-2362.1995.tb01527.x.

Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.植烷酰辅酶A羟化酶不仅在经典型雷夫叙姆病中缺乏，在点状软骨发育异常的根茎型中也缺乏。

J Inherit Metab Dis. 1997 Jul;20(3):444-6. doi: 10.1023/a:1005379406639.

Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomes.泽尔韦格综合征与其他以过氧化物酶体组装受损为特征的过氧化物酶体疾病之间的遗传关系。

Prog Clin Biol Res. 1990;321:545-58.

Cyclooxygenase pathway in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin.过氧化物酶体起源的代谢紊乱患者皮肤成纤维细胞中的环氧化酶途径

Clin Chim Acta. 1993 Aug 31;217(2):205-12. doi: 10.1016/0009-8981(93)90167-3.

Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts.在点状软骨发育不良的成纤维细胞中，过氧化物酶体形态正常，但缺乏3-氧代酰基辅酶A硫解酶。

Biochim Biophys Acta. 1991 Jul 26;1097(1):62-70. doi: 10.1016/0925-4439(91)90025-5.

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Squalene epoxidase (SQLE) promotes the growth and migration of the hepatocellular carcinoma cells.角鲨烯环氧酶（SQLE）促进肝癌细胞的生长和迁移。

Tumour Biol. 2015 Aug;36(8):6173-9. doi: 10.1007/s13277-015-3301-x. Epub 2015 Mar 19.

Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.肢根型点状软骨发育不良，一种由过氧化物酶体蛋白导入受体Pex7p缺陷引起的过氧化物酶体生物发生障碍：一篇综述。

Neurochem Res. 1999 Apr;24(4):581-6. doi: 10.1023/a:1023957110171.

本文引用的文献

Peroxisomes: Organelles at the crossroads.过氧化物酶体：处于交汇点的细胞器。

Trends Cell Biol. 1997 Oct;7(10):400-7. doi: 10.1016/S0962-8924(97)01126-4.

J Inherit Metab Dis. 1997 Jul;20(3):444-6. doi: 10.1023/a:1005379406639.

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.肢根型点状软骨发育不良是由人类PEX7缺乏引起的，PEX7是酵母PTS2受体的同源物。

Nat Genet. 1997 Apr;15(4):381-4. doi: 10.1038/ng0497-381.

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.肢根型点状软骨发育不良是一种由无功能的PTS2受体引起的过氧化物酶体蛋白靶向疾病。

Nat Genet. 1997 Apr;15(4):377-80. doi: 10.1038/ng0497-377.

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.人类PEX7编码过氧化物酶体PTS2受体，并与点状软骨发育不良相关。

Nat Genet. 1997 Apr;15(4):369-76. doi: 10.1038/ng0497-369.

Cell compartmentalization of cholesterol biosynthesis.胆固醇生物合成的细胞区室化。

Ann N Y Acad Sci. 1996 Dec 27;804:142-64. doi: 10.1111/j.1749-6632.1996.tb18614.x.

J Inherit Metab Dis. 1996;19(2):193-6. doi: 10.1007/BF01799427.

Mevalonate kinase is predominantly localized in peroxisomes and is defective in patients with peroxisome deficiency disorders.甲羟戊酸激酶主要定位于过氧化物酶体，在患有过氧化物酶体缺乏症的患者中存在缺陷。

J Biol Chem. 1994 Jan 14;269(2):1197-205.

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.

3-Hydroxy-3-methylglutaryl-coenzyme A reductase is present in peroxisomes in normal rat liver cells.3-羟基-3-甲基戊二酰辅酶A还原酶存在于正常大鼠肝细胞的过氧化物酶体中。

Proc Natl Acad Sci U S A. 1985 Feb;82(3):770-4. doi: 10.1073/pnas.82.3.770.

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