SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation
在SCSD患者中发现的Kunitz结构域2中的SPINT2突变,通过异常的蛋白质折叠和N-糖基化作用,使HAI-2作为前列腺素抑制剂失活。
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddae005
Huang, Nanxi; Wang, Qiaochu; Bernard, Robert B; Chen, Chao-Yang; Hu, Je-Ming; Wang, Jehng-Kang; Chan, Khee-Siang; Johnson, Michael D; Lin, Chen-Yong