胱硫醚β-合酶缺乏症：来自培养的人类细胞的正常和异常酶之间热稳定性的差异。 - Suppr | 超能文献

Cystathionine beta-synthase deficiency: differences in thermostability between normal and abnormal enzyme from cultured human cells.

作者信息

Fleisher L D, Longhi R C, Tallan H H, Gaull G E

出版信息

Pediatr Res. 1978 Apr;12(4 Pt 1):293-6. doi: 10.1203/00006450-197804000-00009.

DOI:10.1203/00006450-197804000-00009

Abstract

摘要

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Cystathionine beta-synthase deficiency: differences in thermostability between normal and abnormal enzyme from cultured human cells.胱硫醚β-合酶缺乏症：来自培养的人类细胞的正常和异常酶之间热稳定性的差异。

Pediatr Res. 1978 Apr;12(4 Pt 1):293-6. doi: 10.1203/00006450-197804000-00009.

2

Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts.同型胱氨酸尿症。培养的成纤维细胞中三种不同类型的胱硫醚β-合酶突变体的证据。

J Clin Invest. 1978 Mar;61(3):645-53. doi: 10.1172/JCI108976.

3

Studies on the use of skin fibroblasts for the measurement of cystathionine synthase activity with respect to homocystinuria.关于利用皮肤成纤维细胞测定同型胱氨酸尿症中胱硫醚合成酶活性的研究。

Clin Chim Acta. 1976 Nov 15;73(1):157-62. doi: 10.1016/0009-8981(76)90317-x.

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Recent advances in the mechanism of pyridoxine-responsive disorders.维生素B6反应性疾病机制的最新进展。

J Inherit Metab Dis. 1985;8 Suppl 1:76-83. doi: 10.1007/BF01800664.

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Cystathionine beta-synthase deficiency: a qualitative abnormality of the deficient enzyme modified by vitamin B6 therapy.胱硫醚β-合酶缺乏症：维生素B6治疗可改善的缺陷酶的定性异常。

Pediatr Res. 1977 Feb;11(2):100-3. doi: 10.1203/00006450-197702000-00003.

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Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts.同型胱氨酸尿症：皮肤成纤维细胞中胱硫醚β-合酶、S-腺苷甲硫氨酸合成酶和胱硫醚酶活性的研究

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Affinity of cystathionine beta-synthase for pyridoxal 5'-phosphate in cultured cells. A mechanism for pyridoxine-responsive homocystinuria.培养细胞中胱硫醚β-合酶对磷酸吡哆醛的亲和力。维生素B6反应性同型胱氨酸尿症的一种机制。

J Clin Invest. 1980 Aug;66(2):188-93. doi: 10.1172/JCI109843.

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The molecular defect in a case of (cystathionine beta-synthase)-deficient homocystinuria.一例胱硫醚β-合酶缺乏型同型胱氨酸尿症的分子缺陷。

Eur J Biochem. 1977 Apr 1;74(2):269-73. doi: 10.1111/j.1432-1033.1977.tb11390.x.

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Free amino acids in liver of patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B6.由于胱硫醚合成酶缺乏导致的同型胱氨酸尿症患者肝脏中的游离氨基酸：维生素B6的作用

J Pediatr. 1977 Oct;91(4):574-7. doi: 10.1016/s0022-3476(77)80505-2.

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Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.通过甲硫氨酸负荷试验与培养成纤维细胞中酶的测定相结合，改进对因胱硫醚合成酶缺乏所致同型胱氨酸尿症杂合子的识别。

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引用本文的文献

1

Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts.同型胱氨酸尿症：皮肤成纤维细胞中胱硫醚β-合酶、S-腺苷甲硫氨酸合成酶和胱硫醚酶活性的研究

J Inherit Metab Dis. 1981;4(1):3-6. doi: 10.1007/BF02263573.

2

Recent advances in the mechanism of pyridoxine-responsive disorders.维生素B6反应性疾病机制的最新进展。

J Inherit Metab Dis. 1985;8 Suppl 1:76-83. doi: 10.1007/BF01800664.