人类甲基丙二酰辅酶A变位酶活性的遗传性缺陷：突变脱辅基酶对腺苷钴胺素的亲和力降低。 - Suppr

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超能文献

Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin.

作者信息

Willard H F, Rosenberg L E

出版信息

Biochem Biophys Res Commun. 1977 Oct 10;78(3):927-34. doi: 10.1016/0006-291x(77)90511-3.

DOI:10.1016/0006-291x(77)90511-3

PMID:20894

Abstract

摘要

相似文献

Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin.人类甲基丙二酰辅酶A变位酶活性的遗传性缺陷：突变脱辅基酶对腺苷钴胺素的亲和力降低。

Biochem Biophys Res Commun. 1977 Oct 10;78(3):927-34. doi: 10.1016/0006-291x(77)90511-3.

Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression.人类成纤维细胞中遗传性甲基丙二酸单酰辅酶A变位酶脱辅基酶缺乏症：等位基因异质性、遗传复合性和共显性表达的证据。

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A new variant of methylmalonic acidemia-defective coenzyme-apoenzyme binding in cultured fibroblasts.甲基丙二酸血症的一种新变体——培养成纤维细胞中辅酶-脱辅基酶结合缺陷

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Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts.正常和突变型人成纤维细胞中的钴胺素结合及钴胺素依赖性酶活性

J Clin Invest. 1978 Nov;62(5):952-60. doi: 10.1172/JCI109224.

Inborn errors of cobalamin metabolism: effect of cobalamin supplementation in culture on methylmalonyl CoA mutase activity in normal and mutant human fibroblasts.钴胺素代谢的先天性缺陷：培养中补充钴胺素对正常及突变型人成纤维细胞中甲基丙二酸单酰辅酶A变位酶活性的影响

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Studies of methylmalonyl coenzyme A carbonylmutase activity in methylmalonic acidemia. I. Correlation of clinical, hepatic, and fibroblast data.甲基丙二酸血症中甲基丙二酰辅酶A羧基变位酶活性的研究。I. 临床、肝脏和成纤维细胞数据的相关性

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Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.对遗传性甲基丙二酸血症患者培养的成纤维细胞的免疫化学研究。

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Congenital methylmalonic acidemia: a variant of the B12 'non-responsive' form with evidence for reduced affinity of methylmalonyl-CoA mutase for its B12-coenzyme.先天性甲基丙二酸血症：维生素B12“无反应性”形式的一种变体，有证据表明甲基丙二酰辅酶A变位酶对其维生素B12辅酶的亲和力降低。

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Studies of methylmalonyl-coenzyme A carbonylmutase activity in methylmalonic acidemia. II. In vitro binding kinetics with adenosylcobalamin.甲基丙二酸血症中甲基丙二酰辅酶A羧基变位酶活性的研究。II. 与腺苷钴胺素的体外结合动力学

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Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase.甲基丙二酰辅酶A变位酶某些突变形式功能障碍的分子基础：从甲硫氨酸合酶结构推导而来。

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Am J Hum Genet. 1994 Jul;55(1):42-50.

Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.在mut0型甲基丙二酸尿症中显示基因内互补的突变的克隆与表达

J Clin Invest. 1994 Apr;93(4):1812-9. doi: 10.1172/JCI117166.

An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.气相色谱-质谱联用技术与遗传性有机酸血症简介

Am J Hum Genet. 1980 Nov;32(6):781-92.

Methylmalonic acidaemia due to mutase apoenzyme defect: responsive to vitamin B12 in intact fibroblasts but not in vivo.由于变位酶脱辅基酶缺陷导致的甲基丙二酸血症：在完整的成纤维细胞中对维生素B12有反应，但在体内无反应。

J Inherit Metab Dis. 1982;5(3):137-41. doi: 10.1007/BF01800166.

Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.对遗传性甲基丙二酸血症患者培养的成纤维细胞的免疫化学研究。

Proc Natl Acad Sci U S A. 1981 Dec;78(12):7737-41. doi: 10.1073/pnas.78.12.7737.

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