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
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:
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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 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:
MODIFICATION OF BRAIN SPECIFIC CYCLIN DEPENDENT KINASE GENES
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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:
ENZYME REPLACEMENT THERAPY IN DISORDERS THAT AFFECT THE CENTRAL NERVOUS SYSTEM
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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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依托单位:
EXPLORATION OF STRATEGIES FOR THE TREATMENT OF AIDS
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批准号:3922644
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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:
DEVELOPMENT OF ENZYMES THAT INACTIVATE NEUROTOXIC AGENTS
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批准号:4696902
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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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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: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:
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:
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:
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:
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:
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:
GAUCHER'S DISEASE--BIOCHEMICAL AND CLINICAL STUDIES
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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:
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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:
海外基金