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METABOLIC BASIS OF CEREBRAL DEGENERATION

METABOLIC BASIS OF CEREBRAL DEGENERATION
脑退化的代谢基础
批准号：
2260722
负责人：
JOHN S O'BRIEN
金额：
$21.62万
依托单位：
UNIVERSITY OF CALIFORNIA, SAN DIEGO
依托单位国家：
美国
项目类别：
财政年份：
1981
资助国家：
美国
项目状态：
已结题
起止时间：
1981-09-01 至 1995-06-30
来源：
https://reporter.nih.gov/project-details/2260722
关键词：
animal genetic material tag animal tissue beta galactosidase cerebral degeneration enzyme activity enzyme structure gangliosidosis GM1 gene expression gene mutation gene therapy genetic mapping human tissue molecular cloning molecular pathology mucopolysaccharidosis type IV nucleic acid sequence tissue /cell culture transfection

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中文摘要
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英文摘要
We plan to define the mutations in human GM1 gangliosidosis, especially patients with the adult form and Morquio Type B. We will pinpoint the mutation in canine GM1 gangliosidosis (Portuguese water dogs) after completing the characterization of the normal canine acid beta-galacto- sidase cDNA. We will express canine and human acid beta-galactosidase cDNA's in several vector systems as a prelude to gene therapy. We plan to assess whether vector-transgene deliver to mutant cells can express sufficient enzyme to achieve metabolic correction and to quantify the amount of enzyme per unit time necessary to achieve this result.
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Molecular cloning of the sphingolipid activator protein-1 (SAP-1), the sulfatide sulfatase activator.
鞘脂激活蛋白-1 (SAP-1)（硫苷脂硫酸酯酶激活剂）的分子克隆。
DOI： 10.1016/s0006-291x(86)80518-6
发表时间： 1986
期刊： Biochemical and biophysical research communications
影响因子： 3.1
作者： [Dewji,N, Wenger,D, Fujibayashi,S, Donoviel,M, Esch,F, Hill,F, O'Brien,JS]
通讯作者： O'Brien,JS
LYSOSOMAL ENZYMES
3 LYSOSOMAL ENZYMES
3 LYSOSOMAL ENZYMES
3 LYSOSOMAL ENZYMES
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