安格斯牛α-甘露糖苷酶缺乏症。一种遗传性溶酶体贮积病。
Deficiency of alpha-mannosidase in Angus cattle. An inherited lysosomal storage disease.
作者信息
Hocking J D, Jolly R D, Batt R D
出版信息
Biochem J. 1972 Jun;128(1):69-78. doi: 10.1042/bj1280069.
Abstract
A disease of Angus cattle previously known as pseudolipidosis has been shown to be an inherited lysosomal storage disease, in which an oligosaccharide containing mannose and glucosamine is the storage substance. Diseased animals have a near-absolute deficiency of the lysosomal enzyme, alpha-mannosidase, whereas heterozygotes have a partial deficiency of this enzyme. The condition is analogous to the human disease known as mannosidosis.
摘要
安格斯牛的一种疾病，以前称为假脂血症，现已证明是一种遗传性溶酶体贮积病，其中含有甘露糖和氨基葡萄糖的寡糖是贮存物质。患病动物的溶酶体酶α-甘露糖苷酶几乎完全缺乏，而异合子则部分缺乏这种酶。这种情况类似于人类疾病甘露糖苷贮积症。
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本文引用的文献
1
Notes on sugar determination.糖分测定笔记。
J Biol Chem. 1952 Mar;195(1):19-23.
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
Detection of sugars on paper chromatograms.纸色谱上糖的检测
Nature. 1950 Sep 9;166(4219):444-5. doi: 10.1038/166444b0.
4
INBORN LYSOSOMAL DISEASES.先天性溶酶体病
Gastroenterology. 1965 May;48:625-33.
5
Method for the determination of hexosamines in tissues.组织中己糖胺的测定方法。
J Biol Chem. 1953 Oct;204(2):553-63.
6
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.法布里病的酶缺陷。神经酰胺三己糖苷酶缺乏症。
N Engl J Med. 1967 May 25;276(21):1163-7. doi: 10.1056/NEJM196705252762101.
7
The sphingolipidoses.鞘脂贮积症
N Engl J Med. 1966 Aug 11;275(6):312-8. doi: 10.1056/NEJM196608112750606.
8
A peptidohydrolase from mammalian fibroblasts (bovine dental pulp).一种来自哺乳动物成纤维细胞（牛牙髓）的肽水解酶。
Biochemistry. 1966 Jan;5(1):158-68. doi: 10.1021/bi00865a021.
9
The genetics of galactose-1-phosphate uridyl transferase deficiency.1-磷酸半乳糖尿苷酰转移酶缺乏症的遗传学
J Lab Clin Med. 1966 Oct;68(4):646-58.
10
Tissue acid hydrolase activities in Gaucher's disease.戈谢病中的组织酸性水解酶活性
Scand J Clin Lab Invest. 1968;22(1):62-4. doi: 10.3109/00365516809160739.
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