Abstract：
ADAMTS13 is a plasma metalloprotease with the primary function of cleaving VWF to maintain hemostasis. Circulating ADAMTS13 is in the closed conformation until blood vessel injury triggers a VWF-dependant activation to the open active form of the protein. ADAMTS13 is a multi-domain protein with the domains broadly functioning to interact and cleave VWF or maintain global latency of ADAMTS13. Thrombotic Thrombocytopenic Purpura is a disease characterized by excessive thrombi formation in the microvasculature, diagnosis is made when ADAMTS13 activity is <10%. In the hereditary form, a variety of mutations are found throughout all domains of ADAMTS13, examples are given alongside details of each domain in this article. ADAMTS13 mutations can inhibit the binding and cleavage of VWF directly or indirectly through reduced secretion, leading to increased size of VWF multimers and platelet recruitment. Molecular characterization of ADAMTS13 may provide insight into the mechanisms of TTP to aid in both scientific and clinical research.
摘要：
ADAMTS13是一种血浆金属蛋白酶，其主要功能是切割VWF以维持止血。循环ADAMTS13处于闭合构象，直到血管损伤触发VWF依赖性活化为蛋白质的开放活性形式。ADAMTS13是一种多结构域蛋白，其结构域广泛地发挥作用以相互作用和切割VWF或维持ADAMTS13的全局潜伏期。血栓性血小板减少性紫癜是一种以微脉管系统中过度血栓形成为特征的疾病,当ADAMTS13活性<10%时进行诊断。在遗传形式中，在ADAMTS13的所有域中都发现了多种突变，本文中给出了每个域的详细信息。ADAMTS13突变可以通过减少分泌直接或间接抑制VWF的结合和裂解,导致VWF多聚体和血小板募集的大小增加。ADAMTS13的分子表征可以提供对TTP机制的深入了解，以帮助科学和临床研究。
