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Aminoadipate semialdehyde synthase as a therapeutic target for pyridoxine dependent epilepsy

Aminoadipate semialdehyde synthase as a therapeutic target for pyridoxine dependent epilepsy
氨基己二酸半醛合酶作为吡哆醇依赖性癫痫的治疗靶点
批准号：
10269700
负责人：
Anton Simeonov
金额：
$11.24万
依托单位：
NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES
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/10269700
关键词：
Alternative TherapiesBiological AssayCognitiveDevelopmentEnzymesEpilepsyGenesInheritedL FormsLysineMetabolic PathwayMutationNeonatalPathogenicityPeriodicityValidationVitamin B6carboxylatehigh throughput screeninginhibitor/antagonistneurodevelopmentpatient subsetspiperidinescreeningsmall molecule librariesstandard caretherapeutic target

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英文摘要
This project aims to identify inhibitors of an upstream enzyme - aminoadipate semialdehyde synthase (AASS) - to reduce accumulation of AASA/P6C and serve as substrate reduction therapy for PDE. During this period, the collaborative team continued its development of a robust screening-amenable assay to enable quantitative high-throughput screening of AASS. Following completion of pilot screening, the team will pursue large-scale screening of ETB's small molecule libraries, and will proceed with hit identification, validation and characterization.
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