申请人:THE BROAD INSTITUTE, INC.
公开号:US11207278B2
公开(公告)日:2021-12-28
The present disclosure relates to compositions and methods for the diagnosis and treatment or prevention of proteinopathies, particularly MUC1-associated kidney disease (ADTKD-MUC1 or MKD), Retinitis Pigmentosa (e.g., due to rhodopsin mutations), autosomal dominant tubulo-interstitial kidney disease due to UMOD mutation(s) (ADTKD-UMOD), and other forms of toxic proteinopathies resulting from mutant protein accumulation in the ER or other secretory pathway compartments and/or vesicles, among others. The disclosure also identifies and provides TMED9-binding agents as capable of treating or preventing proteinopathies of the secretory pathway, and further provides methods for identifying additional TMED9-binding agents.
本公开涉及用于诊断和治疗或预防蛋白病的组合物和方法,特别是MUC1相关性肾病(ADTKD-MUC1或MKD)、视网膜色素变性(例如,由于视网膜色素变性导致的视网膜色素变性)、由于UMOD突变导致的常染色体显性肾小管间质性肾病(ADTKD-UMOD)以及其他形式的毒性蛋白病、由于 UMOD 突变引起的常染色体显性肾小管间质性肾病(ADTKD-UMOD),以及由于突变蛋白在 ER 或其他分泌途径区室和/或囊泡中积累而导致的其他形式的毒性蛋白病等。本公开还确定并提供了能够治疗或预防分泌途径蛋白病的 TMED9 结合剂,并进一步提供了确定其他 TMED9 结合剂的方法。