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METABOLISM OF COMPLEX LIPIDS OF NERVOUS TISSUES

METABOLISM OF COMPLEX LIPIDS OF NERVOUS TISSUES
神经组织复合脂质的代谢
批准号：
3881663
负责人：
R O BRADY
金额：
$0.0万
依托单位：
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
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
来源：
https://reporter.nih.gov/project-details/3881663
关键词：
HMG coA reductases Niemann Pick disease acyl coA cholesterol clinical trials enzyme biosynthesis enzyme mechanism esterification heterozygote homeostasis human subject human therapy evaluation inborn metabolism disorder diagnosis molecular pathology prenatal diagnosis receptor sphingomyelins tissue /cell culture

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中文摘要
翻译
总结：C型和D型尼曼-皮克患者的代谢缺陷
英文摘要
Summary: 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 have been developed and introduced into medical practice for the diagnosis of Types C and D Niemann-Pick disease and the identification of heterozygotes, and the prenatal diagnosis of these conditions. Current emphasis is on the development of effective therapy for patients with this disorder and the elucidation of the molecular basis of this novel metabolic disorder.
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GENE THERAPY OF INHERITED ENZYME DEFICIENCIES
ENZYME REPLACEMENT THERAPY IN DISORDERS THAT AFFECT THE CENTRAL NERVOUS SYSTEM
ENZYME REPLACEMENT THERAPY IN DISORDERS THAT AFFECT THE CENTRAL NERVOUS SYSTEM
ENZYME REPLACEMENT THERAPY IN AN ANALOGUE OF HUMAN GM1 GANGLIOSIDOSIS
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