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克拉伯病的突变性质。

The nature of mutation in Krabbe disease.

作者信息

Ben-Yoseph Y, Hungerford M, Nadler H L

出版信息

Am J Hum Genet. 1978 Nov;30(6):644-52.

PMID:85413
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1685874/
Abstract

Galactosylceramide beta-galactosidase cross reacting material was demonstrated in brain, liver, and skin fibroblasts from patients with Krabbe disease. The mutant enzyme was antigenically identical to the normal enzyme and exhibited similar electrophoretic mobility. Normal quantities of the catalytically deficient enzyme were measured in the patients' tissues by a sensitive single radial immunodiffusion assay, indicating that the mutation is in structural gene for the enzyme protein.

摘要

在患有克拉伯病的患者的脑、肝和皮肤成纤维细胞中证实了半乳糖神经酰胺β-半乳糖苷酶交叉反应物质。突变酶在抗原性上与正常酶相同，并表现出相似的电泳迁移率。通过灵敏的单向放射免疫扩散测定法在患者组织中检测到正常量的催化缺陷酶，这表明突变存在于酶蛋白的结构基因中。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f768/1685874/3cdebfbe94a5/ajhg00204-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f768/1685874/937dccbde996/ajhg00204-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f768/1685874/3cdebfbe94a5/ajhg00204-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f768/1685874/937dccbde996/ajhg00204-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f768/1685874/3cdebfbe94a5/ajhg00204-0077-a.jpg

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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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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.
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A simple chromatographic method for preparation of gamma globulin.一种制备γ球蛋白的简易色谱法。
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Purification of soybean agglutinin by affinity chromatography On sepharose-N-epsilon-aminocaproyl-beta-D-galactopyranosylamine.通过在琼脂糖-N-ε-氨基己酰-β-D-吡喃半乳糖胺上进行亲和层析纯化大豆凝集素。
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Apparently normal extracellular acidic alpha-mannosidase in fibroblast cultures from patients with mannosidosis.甘露糖苷贮积症患者成纤维细胞培养物中看似正常的细胞外酸性α-甘露糖苷酶
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The reliability of molecular weight determinations by dodecyl sulfate-polyacrylamide gel electrophoresis.通过十二烷基硫酸钠-聚丙烯酰胺凝胶电泳测定分子量的可靠性。
J Biol Chem. 1969 Aug 25;244(16):4406-12.
6
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
Brain Res. 1969 Jul;14(2):497-505. doi: 10.1016/0006-8993(69)90124-3.
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Krabbe's leucodystrophy. Some clinical, genetic and pathogenetic considerations.
J Neurol Sci. 1970 Jun;10(6):563-75. doi: 10.1016/0022-510x(70)90188-7.
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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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Globoid cell leukodystrophy: additional deficiency of psychosine galactosidase.
Biochem Biophys Res Commun. 1972 Aug 7;48(3):539-43. doi: 10.1016/0006-291x(72)90381-6.
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Deficiency of monogalactosyl diglycerid beta-B-galactosidase activity in krabbe's disease.克拉伯病中甘油二酯β -半乳糖苷酶单半乳糖基甘油二酯活性缺乏
Biochem Biophys Res Commun. 1973 Jul 17;53(2):680-5. doi: 10.1016/0006-291x(73)90715-8.