Characterization of novel PHEX variants in X-linked hypophosphatemic rickets and genotype-PHEX activity correlation

CONCLUSION: Therefore, our findings demonstrated that novel PHEX variants could disrupt protein function via affecting protein synthesis, post-translational modification, cellular trafficking and catalytic activity. Our study facilitates a better understanding of XLHR pathogenic mechanism and PHEX activity-phenotype correlation, which is of crucial importance for future diagnosis and treatment of XLHR.PMID:38442738 | DOI:10.1210/clinem/dgae120

Source: The Journal of Clinical Endocrinology and Metabolism - March 5, 2024 Category: Endocrinology Authors: Huixiao Wu Hui Ying Wanyi Zhao Yan Sun Yanzhou Wang Xinyu Chen Guimei Li Yangyang Yao Shuo Xu Tianyou Li Li Fang Xiaoqing Sun Ning Wang Jin Xu Qingbo Guan Weibo Xia Li Wang Ling Gao Jiajun Zhao Chao Xu Source Type: research