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Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata.

作者信息

Suzuki Y, Shimozawa N, Izai K, Uchida Y, Miura K, Akatsuka H, Nagaya M, Yamaguchi S, Orii T

机构信息

Department of Pediatrics, Gifu University School of Medicine, Japan.

出版信息

J Inherit Metab Dis. 1993;16(5):868-71. doi: 10.1007/BF00714280.

DOI:10.1007/BF00714280
PMID:8295403
Abstract
摘要

相似文献

1
Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata.过氧化物酶体3-酮酰基辅酶A硫解酶在点状软骨发育不良患者的成纤维细胞中部分加工。
J Inherit Metab Dis. 1993;16(5):868-71. doi: 10.1007/BF00714280.
2
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.
3
Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.肢根型点状软骨发育不良。过氧化物酶体中3-氧代酰基辅酶A硫解酶缺乏及该酶加工受损。
J Clin Invest. 1990 Jul;86(1):126-30. doi: 10.1172/JCI114674.
4
Rhizomelic chondrodysplasia punctata: biochemical studies of peroxisomes isolated from cultured skin fibroblasts.肢根型点状软骨发育不良：从培养的皮肤成纤维细胞中分离出的过氧化物酶体的生化研究
Arch Biochem Biophys. 1991 Apr;286(1):277-83. doi: 10.1016/0003-9861(91)90041-g.
5
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.
6
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.伴有孤立性二羟丙酮酰基转移酶缺乏的肢根型点状软骨发育不良。
Arch Dis Child. 1993 Mar;68(3):415-7. doi: 10.1136/adc.68.3.415.
7
Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group.单一互补群内的非肢根型和肢根型点状软骨发育不良。
Biochim Biophys Acta. 1996 Apr 12;1315(3):153-8. doi: 10.1016/0925-4439(95)00114-x.
8
Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome.X连锁显性遗传性康拉迪-许纳曼综合征中的过氧化物酶体酶缺乏症。
J Inherit Metab Dis. 1989;12 Suppl 2:358-60. doi: 10.1007/BF03335422.
9
Properties of peroxisomal 3-ketoacyl-coA thiolase from rat liver.大鼠肝脏过氧化物酶体3-酮酰基辅酶A硫解酶的特性
J Biochem. 1981 Aug;90(2):511-9. doi: 10.1093/oxfordjournals.jbchem.a133499.
10
Peroxisomal enzyme deficiency in the Conradi-Hunerman form of chondrodysplasia punctata.点状软骨发育不良Conradi-Hunerman型中的过氧化物酶体酶缺乏症。
N Engl J Med. 1987 Jun 18;316(25):1608. doi: 10.1056/NEJM198706183162517.

引用本文的文献

1
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.全外显子组测序揭示了导致1型点状软骨发育不良的不同种族PEX7突变的复合杂合性。
Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26.

本文引用的文献

1
Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.齐-韦二氏（脑-肝-肾）综合征患者中酰基辅酶A：磷酸二羟丙酮酰基转移酶缺乏症
Biochem Biophys Res Commun. 1984 Apr 16;120(1):179-84. doi: 10.1016/0006-291x(84)91430-x.
2
Heterogeneity of Chondrodysplasia punctata.点状软骨发育不良的异质性。
Humangenetik. 1971;11(3):190-212. doi: 10.1007/BF00274739.
3
Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.肢根型点状软骨发育不良：另一种过氧化物酶体病。
N Engl J Med. 1985 Jul 18;313(3):187-8.
4
Immunoblot detection of enzyme proteins of peroxisomal beta-oxidation in fibroblasts, amniocytes, and chorionic villous cells. Possible marker for prenatal diagnosis of Zellweger's syndrome.
Prenat Diagn. 1988 May;8(4):287-90. doi: 10.1002/pd.1970080407.
5
Biochemical abnormalities in rhizomelic chondrodysplasia punctata.点状骨骺发育异常的生化异常
J Pediatr. 1988 May;112(5):726-33. doi: 10.1016/s0022-3476(88)80689-9.
6
Molecular analysis of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: further heterogeneity of the peroxisomal disorder.泽尔韦格综合征和类泽尔韦格综合征婴儿过氧化物酶体β-氧化酶的分子分析：过氧化物酶体疾病的进一步异质性
Clin Chim Acta. 1988 Feb 29;172(1):65-76. doi: 10.1016/0009-8981(88)90121-0.
7
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.
8
Nonspecific lipid transfer protein (sterol carrier protein-2) defective in patients with deficient peroxisomes.
Cell Struct Funct. 1990 Oct;15(5):301-8. doi: 10.1247/csf.15.301.
9
Effects of sodium 2-[5-(4-chlorophenyl)pentyl]-oxirane-2-carboxylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal diseases.2-[5-(4-氯苯基)戊基]环氧乙烷-2-羧酸钠（POCA）对过氧化物酶体疾病患者成纤维细胞中脂肪酸氧化的影响。
Biochem Pharmacol. 1991 Feb 1;41(3):453-6. doi: 10.1016/0006-2952(91)90544-f.
10
Isolation and characterization of Chinese hamster ovary cell mutants defective in assembly of peroxisomes.中国仓鼠卵巢细胞过氧化物酶体组装缺陷突变体的分离与鉴定。
J Cell Biol. 1990 Mar;110(3):651-60. doi: 10.1083/jcb.110.3.651.