GM1 gangliosidosis in skin fibroblast culture: enzymatic differences between types 1 and 2 and observations on a third variant.
作者信息
Pinsky L, Miller J, Shanfield B, Watters G, Wolfe L S
出版信息
Am J Hum Genet. 1974 Sep;26(5):563-77.
Abstract
摘要
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Beta-galactosidase in tissue culture derived from human skin and bone marrow. Enzyme defect in GM1 gangliosidosis.源自人皮肤和骨髓的组织培养中的β-半乳糖苷酶。GM1神经节苷脂贮积症中的酶缺陷。
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GM1 gangliosidosis type II.II型GM1神经节苷脂贮积症
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GM1-ganglioside accumulation and beta-galactosidase deficiency in a case of GM1-gangliosidosis (Landing disease).GM1神经节苷脂贮积症（兰丁病）一例中的GM1神经节苷脂蓄积及β-半乳糖苷酶缺乏
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Ganglioside storage diseases.神经节苷脂贮积病
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Gm2-gangliosidosis: studies in cultured fibroblasts.
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Pattern of beta-galactosidase deficiency in GM1-gangliosidosis type 1 and type 2.1型和2型GM1神经节苷脂贮积症中β-半乳糖苷酶缺乏的模式。
Tohoku J Exp Med. 1973 Jul;110(3):309-10. doi: 10.1620/tjem.110.309.
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Generalized gangliosidosis.全身性神经节苷脂贮积症
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Reduced affinity of the androgen receptor for 5 alpha-dihydrotestosterone but not methyltrienolone in a form of partial androgen resistance. Studies on cultured genital skin fibroblasts.在一种部分雄激素抵抗形式中，雄激素受体对5α - 双氢睾酮的亲和力降低，但对甲基三烯olone的亲和力未降低。对培养的生殖器皮肤成纤维细胞的研究。
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Genetic control of ganglioside biosynthesis in mice.小鼠神经节苷脂生物合成的遗传控制
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The presence of a reduced amount of 32-kd "protective" protein is a distinct biochemical finding in late infantile galactosialidosis.在晚发性婴儿型半乳糖唾液酸贮积症中，32-kd“保护性”蛋白含量减少是一项明显的生化发现。
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Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes.半乳糖唾液酸贮积症：不同临床表型间的分子异质性。
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The lesions of an ovine lysosomal storage disease. Initial characterization.一种绵羊溶酶体贮积病的病变。初步特征描述。
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A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.一种轻度形式的半乳糖唾液酸贮积症中的突变会损害保护蛋白的二聚化，并使其变得不稳定。
EMBO J. 1991 Dec;10(13):4041-8. doi: 10.1002/j.1460-2075.1991.tb04980.x.
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The separation and characterization of the methylumbelliferyl beta-galactosidases of human liver.人肝脏甲基伞形酮基β-半乳糖苷酶的分离与鉴定
Biochem J. 1976 Jul 1;157(1):189-95. doi: 10.1042/bj1570189.
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Male pseudohermaphroditism: diagnosis in cell culture.男性假两性畸形：细胞培养中的诊断
Can Med Assoc J. 1977 Jun 4;116(11):1274-5, 1277.
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Gmi-gangliosidosis. A variant with high activity of hepatic neutral beta-galactosidase.Gmi-神经节苷脂沉积症。一种具有高活性肝中性β-半乳糖苷酶的变异型。
Eur J Pediatr. 1976 Jun 8;122(3):177-86. doi: 10.1007/BF00463735.
本文引用的文献
1
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.
2
GM1-gangliosidosis types 1 and 2: enzymatic differences in cultured fibroblasts.GM1神经节苷脂沉积症1型和2型：培养成纤维细胞中的酶学差异
Nature. 1970 Dec 12;228(5276):1093-5. doi: 10.1038/2281093b0.
3
Stimulation of acid beta-galactosidase activity by chloride ions.氯离子对酸性β-半乳糖苷酶活性的刺激作用。
Clin Chim Acta. 1970 Nov;30(2):531-4. doi: 10.1016/0009-8981(70)90147-6.
4
Beta-galactosidase in tissue culture derived from human skin and bone marrow. Enzyme defect in GM1 gangliosidosis.源自人皮肤和骨髓的组织培养中的β-半乳糖苷酶。GM1神经节苷脂贮积症中的酶缺陷。
Pediatr Res. 1969 Nov;3(6):532-7. doi: 10.1203/00006450-196911000-00002.
5
Intrauterine diagnosis: comparative enzymology of cells cultivated from maternal skin, fetal skin, and amniotic fluid cells.宫内诊断：母体皮肤、胎儿皮肤和羊水细胞培养物的比较酶学
Pediatr Res. 1971 Aug;5(8):366-71. doi: 10.1203/00006450-197108000-00005.
6
Differential effect of chloride ions on -galactosidase isoenzymes: a method for separate assay.氯离子对β-半乳糖苷酶同工酶的差异作用：一种单独测定的方法。
Clin Chim Acta. 1971 May;32(3):443-50. doi: 10.1016/0009-8981(71)90446-3.
7
Leukocyte -galactosidase activity in GM 1 -gangliosidosis.
Pediatrics. 1972 Sep;50(3):502-3.
8
Clinical and enzymatic variations in G M1 generalized gangliosidosis.GM1 型全身性神经节苷脂贮积症的临床及酶学变化
Am J Hum Genet. 1972 Jul;24(4):454-63.
9
The electrophoretic separation of human -galactosidases on cellulose acetate.人β-半乳糖苷酶在醋酸纤维素上的电泳分离
Biochem Med. 1971 Apr;5(2):158-64. doi: 10.1016/0006-2944(71)90083-4.
10
Properties of 4-methylumbelliferyl-beta-galactosidase activities in human liver.人肝脏中4-甲基伞形酮基-β-半乳糖苷酶活性的特性
Scand J Clin Lab Invest. 1969 May;23(3):213-7. doi: 10.3109/00365516909077651.
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