METABOLISM OF COMPLEX LIPIDS OF NERVOUS TISSUES
METABOLISM OF COMPLEX LIPIDS OF NERVOUS TISSUES
批准号:
3922451
负责人:
R O BRADY
金额:
$0.0万
依托单位国家:
美国
项目类别:
财政年份:
--
资助国家:
美国
项目状态:
未结题
起止时间:
至
关键词:
Gaucher's disease HMG coA reductases Krabbe's disease Niemann Pick disease Rodentias acyl coA cerebrosides cholesterol disease /disorder model esterification gangliosides genetically modified animals human tissue inborn metabolism disorder diagnosis lipid metabolism low density lipoprotein model design /development molecular pathology prenatal diagnosis sphingomyelins tissue /cell culture
中文摘要
1.C型和D型尼曼综合征患者的代谢缺陷
皮克病已被证明是由于细胞内异常引起的
胆固醇动态平衡。这些疾病中的分子损害
结果:(1)未能下调细胞上的低密度脂蛋白受体
膜;(2)HMGCoA还原酶缺乏下调,这是一个关键
胆固醇生物合成中的酶;以及(3)不能上调-
调节酰基胆固醇酰基辅酶A转移酶,该酶
催化细胞内胆固醇的酯化。测试
用于诊断C型和D型尼曼-皮克病和
杂合子的鉴定和产前诊断
这些条件。
2.其他工作主要集中在合成和使用非
葡萄糖脑苷代谢类似物的研究
高雪病的发病机制及高雪病动物模型的建立
人类的紊乱。一种葡萄糖脑苷的类似物已经被
人工合成的,似乎对选择
缺乏葡萄糖脑苷酶的诱变细胞,这种酶缺乏
在高谢病中。这些细胞将被用来构建一个
转基因类似高谢病的小鼠。
英文摘要
1. The metabolic defect in patients with Types C and D Niemann-
Pick disease has been shown to be due to abnormal Intracellular
cholesterol homeostasis. The molecular lesion in these disorders
results in: (1) failure to down-regulate LDL receptors on cell
membranes; (2) lack of down-regulation of HMGCoA reductase, a key
enzyme in cholesterol biosynthesis; and (3) inability to up-
regulate acyl cholesterol acyl CoA transferase, the enzyme that
catalyzes the esterification of intracellular cholesterol. Tests
for the diagnosis of Types C and D Niemann-Pick disease and the
identification of heterozygotes, and the prenatal diagnosis of
these conditions.
2. Other work has centered on the synthesis and use of non-
metabolizable analogs of glucocerebroside to examine the
pathogenesis of Gaucher's disease and to develop a rodent model of
the human disorders. An analog of glucocerebroside has been
synthesized that appears to be useful for the selection of
mutagenized cells that lack glucocerebrosidase, the enzyme lacking
in Gaucher's disease. These cells will be used to construct a
transgenic murine analog of Gaucher's disease.
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ENZYME REPLACEMENT THERAPY IN DISORDERS THAT AFFECT THE CENTRAL NERVOUS SYSTEM
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批准号:5203975
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项目类别:
-
资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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依托单位:
GENE THERAPY OF INHERITED ENZYME DEFICIENCIES
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批准号:6111859
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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依托单位:
ENZYME REPLACEMENT THERAPY IN AN ANALOGUE OF HUMAN GM1 GANGLIOSIDOSIS
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批准号:3782429
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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依托单位:
ENZYME REPLACEMENT THERAPY IN AN ANALOGUE OF HUMAN GM1 GANGLIOSIDOSIS
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批准号:3760329
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项目类别:
-
资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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依托单位:
ENZYME REPLACEMENT THERAPY IN DISORDERS THAT AFFECT THE CENTRAL NERVOUS SYSTEM
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批准号:6163060
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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依托单位:
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批准号:2579614
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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批准号:4696902
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负责人:R O BRADY
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依托单位:
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批准号:6111916
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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依托单位:
GENETIC THERAPY OF FABRY DISEASE
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批准号:2579673
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项目类别:
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资助金额:$0.0万
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依托单位:
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批准号:3846319
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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依托单位:
METABOLISM OF COMPLEX LIPIDS OF NERVOUS TISSUES
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批准号:3945163
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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依托单位:
GENETIC THERAPY OF FABRY DISEASE
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批准号:5204033
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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依托单位:
INVESTIGATION OF THE ETIOLOGY OF MUCOLIPIDOSIS IV
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批准号:3782427
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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依托单位:
GAUCHER'S DISEASE--BIOCHEMICAL AND CLINICAL STUDIES
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批准号:3881725
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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依托单位:
GENERATION OF MOUSE MODELS OF NEUROLOGICAL DISORDERS
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批准号:6163090
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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依托单位:
MODIFICATION OF BRAIN SPECIFIC CYCLIN DEPENDENT KINASE GENES
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批准号:6163089
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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依托单位:
GENETIC THERAPY OF FABRY DISEASE
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批准号:6163104
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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依托单位:
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批准号:3922532
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项目类别:
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资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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依托单位:
METABOLISM OF COMPLEX LIPIDS OF NERVOUS TISSUES
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批准号:3881663
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项目类别:
-
资助金额:$0.0万
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财政年份:--
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负责人:R O BRADY
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依托单位:
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