Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.
作者信息
Willard H F, Mellman I S, Rosenberg L E
出版信息
Am J Hum Genet. 1978 Jan;30(1):1-13.
Abstract
摘要
相似文献
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Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import.甲基丙二酰辅酶A变位酶脱辅基酶缺乏症患者成纤维细胞的免疫化学研究：检测到一种干扰线粒体导入的突变
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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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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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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。
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Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency.一名患有甲基丙二酸单酰辅酶A变位酶缺乏症的新生儿出现严重高氨血症。
J Pediatr. 1978 May;92(5):769-71. doi: 10.1016/s0022-3476(78)80147-4.
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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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Benign methylmalonic aciduria.良性甲基丙二酸尿症
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Methylmalonyl-CoA mutase deficiency associated with severe neonatal hyperammonemia: activity of urea cycle enzymes.
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Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency.甲基丙二酸尿症：甲基丙二酰辅酶A脱辅基酶缺乏症的一种变异形式。
J Pediatr. 1977 Sep;91(3):428-30. doi: 10.1016/s0022-3476(77)81313-9.
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Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).新生儿甲基丙二酸血症阳性筛查发现了细胞摄取与转钴胺素结合的维生素 B(12)的基因 TCblR/CD320 的第一个突变。
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A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins.一种人类维生素 B12 转运蛋白利用谷胱甘肽转移酶活性来处理烷基钴胺素。
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The tinker, tailor, soldier in intracellular B12 trafficking.细胞内 B12 转运中的补锅匠、裁缝和士兵。
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Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).合并甲基丙二酸血症和同型胱氨酸尿症（cblC型）的临床异质性与预后
J Inherit Metab Dis. 1997 Aug;20(4):528-38. doi: 10.1023/a:1005353530303.
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Genetics of propionic acidemia in a Mennonite-Amish kindred.门诺派-阿米什家族中丙酸血症的遗传学
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本文引用的文献
1
Absence of an intracellular cobalamin-binding protein in cultured fibroblasts from patients with defective synthesis of 5'-deoxyadenosylcobalamin and methylcobalamin.5'-脱氧腺苷钴胺素和甲钴胺素合成缺陷患者培养成纤维细胞中缺乏细胞内钴胺素结合蛋白。
Proc Natl Acad Sci U S A. 1975 Nov;72(11):4617-21. doi: 10.1073/pnas.72.11.4617.
2
Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
3
Methylmalonic aciduria: metabolic block localization and vitamin B 12 dependency.甲基丙二酸尿症：代谢阻断定位与维生素B12依赖性
Science. 1968 Nov 15;162(3855):805-7. doi: 10.1126/science.162.3855.805.
4
Synthesis of cobalamin coenzymes by human cells in tissue culture.
J Lab Clin Med. 1971 Aug;78(2):302-8.
5
Homocystinuria with methylmalonic aciduria: two cases in a sibship.伴有甲基丙二酸尿症的同型胱氨酸尿症：一家系中的两例病例
Biochem Med. 1970 Dec;4(5):500-15. doi: 10.1016/0006-2944(70)90080-3.
6
Deranged B 12 metabolism: studies of fibroblasts grown in tissue culture.维生素B12代谢紊乱：组织培养中生长的成纤维细胞研究
Biochem Med. 1970 Nov;4(3):215-39. doi: 10.1016/0006-2944(70)90050-5.
7
Deranged B 12 metabolism: effects on sulfur amino acid metabolism.维生素B12代谢紊乱：对含硫氨基酸代谢的影响。
Biochem Med. 1970 Nov;4(3):193-214. doi: 10.1016/0006-2944(70)90049-9.
8
Defective metabolism of vitamin B 12 in fibroblasts from children with methylmalonicaciduria.甲基丙二酸尿症患儿成纤维细胞中维生素B12代谢缺陷。
Biochem Biophys Res Commun. 1971 Jul 16;44(2):375-81. doi: 10.1016/0006-291x(71)90610-3.
9
Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.源自缺乏1-磷酸半乳糖尿苷酰转移酶活性的人二倍体细胞株的杂交细胞中的等位基因间互补作用。
Proc Natl Acad Sci U S A. 1970 Oct;67(2):976-82. doi: 10.1073/pnas.67.2.976.
10
Genetics of somatic mammalian cells. X. Complementation analysis of glycine-requiring mutants.哺乳动物体细胞遗传学。X. 甘氨酸需求型突变体的互补分析。
Proc Natl Acad Sci U S A. 1969 Dec;64(4):1284-91. doi: 10.1073/pnas.64.4.1284.
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