A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway

CONCLUSION: We confirmed the pathogenicity of the large deletion in TSC2 in a three- generations family.. Deletion of exon 4 of TSC2 affected cell proliferation, migration, and cell cycle via abnormal activation of the PAM pathway. This study evaluated the pathogenic effect of deletion of exon 4 of TSC2 and investigated the underlying mechanism.PMID:38412945 | DOI:10.1016/j.gene.2024.148312

Source: Gene - February 27, 2024 Category: Genetics & Stem Cells Authors: Jiahui Fu Peili Liang Yingchun Zheng Cailing Xu Fu Xiong Fang Yang Source Type: research