MECHANISMS OF INHERITED MEMBRANE TRANSPORT DISORDERS

该计划旨在阐明 氨基酸和糖的疯狂运输，重点是 以胱氨酸尿症为典型的遗传性转运异常 几种遗传性代谢相关的Fanconi综合征 疾病及其全球混乱的溶质运输系统和 未成熟氨基酸尿症的个体发生事件。该计划 将利用细胞和亚细胞系统以及完好无损 描述所涉及的基本分子事件的动物模型 将侧重于尖端方法的应用，例如 质谱学、核磁共振和DNA技术，以检测细胞 交通事件。 拟议的研究计划包括六个项目，均为 按主题目标相互关联、相互关联的工作人员和共享 技术和三个核心。它们是： 项目1，胱氨酸尿症和肾脏胱氨酸-赖氨酸的性质 交通系统，西格尔博士，项目2首席研究员， 范柯尼综合征化学模型的15N-GC-MS研究 和13C-核磁共振，首席研究员，尼西姆博士，项目3， 培养的肾上皮细胞作为肾脏转运的模型系统 机制，首席研究员，Dr.States，项目4，动物 运输障碍模型，首席研究员，Bovee博士 和西格尔，项目5，人体肠道氨基酸的检查 运输系统，麦克纳马拉博士，项目6，个体发生和监管 肾膜转运，徐博士，核心A，膜和 肾小管准备，McNamara博士，核心B分析 首页--期刊主要分类--期刊细介绍--期刊题录与文摘--期刊细介绍 西格尔。

The program aims to elucidate the underlying abnormalities in deranged transport of amino acids and sugar with emphasis on cystinuria as the prototypic inherited transport abnormality, the Fanconi syndrome associated with several inherited metabolic diseases with its global disarray of solute transport systems and ontogenic events of the aminoaciduria of immaturity. The program will utilize cellular and subcellular systems as well as intact animal models to delineate the basic molecular events involved and will be focused on the application of cutting-edge methods such as mass spectrometry and NMR and DNA technology, to examine cellular transport events. The proposed research program consists of six projects all interrelated by their thematic aim, interlocking staff and shared techniques and three cores. These are: Project 1, Cystinuria and the Nature of the Renal Cystine-Lysine Transport System, Dr. Segal, Principal Investigator, Project 2, Chemical Models of the Fanconi Syndrome: Studies with 15N-GC-MS and 13C-NMR, Principal Investigator, Dr. Nissim, Project 3, Cultured Renal Epithelial Cells as Model Systems of Renal Transport Mechanisms, Principal Investigator, Dr. States, Project 4, Animal Models of Transport Disorders, Principal Investigator, Drs. Bovee and Segal, Project 5, Examination of Human Intestinal Amino Acid Transport Systems, Dr. McNamara, Project 6, Ontogeny and Regulation of Transport in Renal Membranes, Dr. Hsu, Core A, Membrane and Tubule Preparation, Dr. McNamara, Core B Analytical Chromatography., Dr. Yandrasitz, and Core C, Administrative, Dr. Segal.