克拉伯病（球形细胞脑白质营养不良症）。白细胞、培养的皮肤成纤维细胞及羊水细胞的半乳糖基神经酰胺β-半乳糖苷酶和非特异性β-半乳糖苷酶研究。
Krabbe's globoid cell leucodystrophy. Studies on galactosylceramide beta-galactosidase and non-specific beta-galactosidase of leucocytes, cultured skin fibroblasts, and amniotic fluid cells.
作者信息
Besley G T, Bain A D
出版信息
J Med Genet. 1976 Jun;13(3):195-9. doi: 10.1136/jmg.13.3.195.
Abstract
Galactosylceramide beta-galactosidase (cerebrosidase) and nonspecific beta-galactosidase activities were measured in both cultured skin fibroblasts and leucocytes from a family with Krabbe's globoid cell leucodystrophy (GLD). The activities of these enzymes were also determined in cultured skin fibroblasts of a patient with GM1 gangliosidosis and in cultured amniotic fluid cells. While cerebrosidase activity was deficient in GLD fibroblasts and leucocytes, its activity in GM1 gangliosidosis fibroblasts was increased. Two forms of each enzyme were found on isoelectric focusing, but in the GM1 gangliosidosis fibroblasts, cerebrosidase activity occurred as a single but intermediate peak. The use of cultured cells in assessing isoenzyme abnormalities associated with certain neurolipidoses is discussed.
摘要
在一个患有克拉伯病（球样细胞脑白质营养不良，GLD）的家族的培养皮肤成纤维细胞和白细胞中，测定了半乳糖基神经酰胺β-半乳糖苷酶（脑苷脂酶）和非特异性β-半乳糖苷酶的活性。还在一名GM1神经节苷脂贮积症患者的培养皮肤成纤维细胞和培养羊水细胞中测定了这些酶的活性。虽然脑苷脂酶活性在GLD成纤维细胞和白细胞中缺乏，但在GM1神经节苷脂贮积症成纤维细胞中其活性增加。在等电聚焦时发现每种酶有两种形式，但在GM1神经节苷脂贮积症成纤维细胞中，脑苷脂酶活性表现为单一的中间峰。讨论了使用培养细胞评估与某些神经脂质贮积症相关的同工酶异常情况。
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Krabbe's globoid cell leucodystrophy. Studies on galactosylceramide beta-galactosidase and non-specific beta-galactosidase of leucocytes, cultured skin fibroblasts, and amniotic fluid cells.克拉伯病（球形细胞脑白质营养不良症）。白细胞、培养的皮肤成纤维细胞及羊水细胞的半乳糖基神经酰胺β-半乳糖苷酶和非特异性β-半乳糖苷酶研究。
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引用本文的文献
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本文引用的文献
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Lactosylceramide galactosidase: comparison with other sphingolipid hydrolases in developing rat brain.乳糖基神经酰胺半乳糖苷酶：与发育中大鼠脑内其他鞘脂水解酶的比较
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Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component.泰-萨克斯病：普遍缺乏β-D-N-乙酰己糖胺酶成分。
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Krabbe's globoid cell leukodystrophy: deficiency of glactocerebrosidase in serum, leukocytes, and fibroblasts.克拉伯病（球状细胞脑白质营养不良症）：血清、白细胞和成纤维细胞中半乳糖脑苷脂酶缺乏。
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Sphingolipid hydrolases in brain tissue of patients with generalized gangliodosis.
Biochim Biophys Acta. 1970 Jun 9;210(1):193-5. doi: 10.1016/0005-2760(70)90079-2.
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A simple apparatus for rapid isoelectrofocusing of multiple samples on a micro scale.一种用于在微观尺度上对多个样品进行快速等电聚焦的简单装置。
Anal Biochem. 1970 May;35(1):66-76. doi: 10.1016/0003-2697(70)90010-2.
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Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase.球形细胞脑白质营养不良（克拉伯病）：半乳糖脑苷脂β-半乳糖苷酶缺乏症。
Proc Natl Acad Sci U S A. 1970 Jun;66(2):302-9. doi: 10.1073/pnas.66.2.302.
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In utero diagnosis of globoid cell leukodystrophy (Krabb's disease).
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J Clin Invest. 1970 Feb;49(2):216-24. doi: 10.1172/JCI106230.
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