High-throughput screening to identify modulators of PKD2 function

NCATS早期翻译分支（ETB）拥有一个广泛而全面的计划，用于发现针对罕见疾病的候选药物和探索人类基因组功能的药理学工具。ETB开展研究，以了解推动基础研究发现转化为人类健康切实改善的基本原则。 常染色体显性多囊肾病（ADPKD）是由跨膜蛋白PKD 1（PC 1）或PKD 2（PC 2）突变引起的。PC 1和PC 2亚基在质膜上形成阳离子通道，其功能可被致病突变破坏。在此期间，合作团队开发并优化了一种高通量Fluo 8钙测定法，以鉴定PC 1/2的调节剂，正交测定法的开发正在进行中。

The NCATS Early Translation Branch (ETB) hosts a broad and comprehensive program for the discovery of drug candidates directed towards rare diseases and pharmacological tools to probe the function of the human genome. ETB conducts research to understand the underlying principles driving the translation of basic research discoveries into tangible improvements in human health. Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in transmembrane proteins PKD1 (PC1) or PKD2 (PC2). PC1 and PC2 subunits form a cation channel at the plasma membrane, and function can be disrupted by disease-causing mutations. During this period, the collaborative team developed and optimized a high-throughput Fluo8 calcium assay to identify regulators of PC1/2, and orthogonal assay development is ongoing.