Article
Pharmacological reactivation of inactive X-linked Mecp2 in cerebral cortical neurons of living mice.
Proceedings of the National Academy of Sciences of the United States of America - 31 Jul 2018
Przanowski Piotr, Wasko Urszula, Zheng Zeming, Yu Jun, Sherman Robyn, Zhu Lihua Julie, McConnell Michael J, Tushir-Singh Jogender, Green Michael R, Bhatnagar Sanchita
Abstract excerpt
Rett syndrome (RTT) is a genetic disorder resulting from a loss-of-function mutation in one copy of the X-linked gene methyl-CpG-binding protein 2 (MECP2). Typical RTT patients are females and, due to random X chromosome inactivation (XCI), ∼50% of cells express mutant MECP2 and the other ∼50% express wild-type MECP2. Cells expressing mutant MECP2 retain a wild-type copy of MECP2 on the inactive X chromosome...
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