Article
Rett syndrome: Pathogenicity and regulation of MECP2 (human) and Mecp2 (mouse) genes and their protein products through various molecular mechanisms.
Mutation research. Reviews in mutation research - 1 Jan 2025
Ahmad Bashir, Dumbuya John Sieh, Tang Ji-Xin, Li Wen, Chen Xiuling, Lu Jun
Abstract excerpt
Rett syndrome was first described over 50 years ago as an unusual clinical entity. Mutations in the X-linked MECP2 gene are the primary causes of Rett syndrome. The unstructured MeCP2 protein adopts various functional conformations, complicating its study. Researchers have investigated the pathogenicity and regulation of MECP2 through mechanisms such as apoptosis, mitophagy, the PI3K/AKT/mTOR pathway, BMP...
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