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Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells.

作者信息

Mellman I, Willard H F, Youngdahl-Turner P, Rosenberg L E

出版信息

J Biol Chem. 1979 Dec 10;254(23):11847-53.

PMID:500677
Abstract
摘要

相似文献

1
Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells.正常和突变型人成纤维细胞中钴胺素辅酶的合成。cblC细胞中加工酶活性缺陷的证据。
J Biol Chem. 1979 Dec 10;254(23):11847-53.
2
Metabolic cooperation among cell lines from patients with inborn errors of vitamin B12 metabolism: differential response of cblC and cblD.维生素B₁₂代谢先天性缺陷患者细胞系间的代谢合作:cblC和cblD的差异反应
Clin Invest Med. 1991 Apr;14(2):153-9.
3
Methionine auxotrophy in inborn errors of cobalamin metabolism.钴胺素代谢先天性缺陷中的甲硫氨酸营养缺陷
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4
Inherited disorders of cobalamin metabolism.
Crit Rev Oncol Hematol. 1994 Oct;17(2):133-51. doi: 10.1016/1040-8428(94)90022-1.
5
New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria.表现为甲基丙二酸尿症的维生素B12代谢新紊乱(钴胺素F)
Pediatrics. 1986 Jul;78(1):51-4.
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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.
7
A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.一个新的 LMBRD1 突变导致了一名土耳其患者维生素 B(12)代谢的 cblF 缺陷。
J Inherit Metab Dis. 2010 Feb;33(1):17-24. doi: 10.1007/s10545-009-9032-7. Epub 2010 Feb 3.
8
Genetic control of cobalamin binding in normal and mutant cells: assignment of the gene for 5-methyltetrahydrofolate:L-homocysteine S-methyltransferase to human chromosome 1.正常细胞和突变细胞中钴胺素结合的遗传控制:5-甲基四氢叶酸:L-高半胱氨酸S-甲基转移酶基因定位于人类1号染色体
Proc Natl Acad Sci U S A. 1979 Jan;76(1):405-9. doi: 10.1073/pnas.76.1.405.
9
Transcobalamin in cultured fibroblasts from patients with inborn errors of vitamin B12 metabolism.维生素B12代谢先天性缺陷患者培养成纤维细胞中的转钴胺素
Mol Genet Metab. 2008 Sep-Oct;95(1-2):104-6. doi: 10.1016/j.ymgme.2008.05.007. Epub 2008 Jul 7.
10
Glial cells as a model for the role of cobalamin in the nervous system: impaired synthesis of cobalamin coenzymes in cultured human astrocytes following short-term cobalamin-deprivation.胶质细胞作为钴胺素在神经系统中作用的模型:短期钴胺素缺乏后培养的人星形胶质细胞中钴胺素辅酶合成受损。
Biochem Biophys Res Commun. 1992 Apr 30;184(2):832-9. doi: 10.1016/0006-291x(92)90665-8.

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Kinetics of Cellular Cobalamin Uptake and Conversion: Comparison of Aquo/Hydroxocobalamin to Cyanocobalamin.细胞钴胺素摄取和转化的动力学:水合钴胺素/羟钴胺素与氰钴胺素的比较。
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Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.钴胺素C型疾病中的多功能酶学与异质性表型
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Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.合并型甲基丙二酸血症合并同型胱氨酸尿症,cblC 型。一、临床表现、诊断和治疗。
J Inherit Metab Dis. 2012 Jan;35(1):91-102. doi: 10.1007/s10545-011-9364-y. Epub 2011 Jul 12.
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The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.MMACHC 蛋白组:人类钴胺素功能缺乏的特征。
Mol Genet Metab. 2011 Jul;103(3):226-39. doi: 10.1016/j.ymgme.2011.03.008. Epub 2011 Mar 24.
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Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes.维生素 B₁₂ 代谢遗传障碍:八个互补群——八个基因。
Expert Rev Mol Med. 2010 Nov 29;12:e37. doi: 10.1017/S1462399410001651.
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Isolated remethylation disorders: do our treatments benefit patients?孤立性再甲基化障碍:我们的治疗方法对患者有益吗?
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Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.维生素 B12 反应性 cblC 型变位酶缺陷症中突变型 MMACHC 蛋白的热不稳定性。
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Hydroxocobalamin dose escalation improves metabolic control in cblC.羟钴胺剂量递增可改善 cblC 患者的代谢控制。
J Inherit Metab Dis. 2009 Dec;32(6):728-731. doi: 10.1007/s10545-009-1257-y. Epub 2009 Oct 10.