High-throughput screening to identify modulators of PKD2 function

NCATS早期翻译处(ETB)主持了一项广泛而全面的计划，以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进行研究，以了解推动基础研究发现转化为对人类健康的切实改善的潜在原则。 常染色体显性遗传性多囊肾病(ADPKD)是由跨膜蛋白PKD1(PC1)或PKD2(PC2)突变引起的。PC1和PC2亚基在质膜上形成一个阳离子通道，致病突变可以破坏其功能。在此期间，合作团队开发和优化了高通量的Fluo8钙检测方法，以确定PC1/2的调节因子，并正在进行正交检测的开发。

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.