Article
Generation and Characterization of a Human Neuronal In Vitro Model for Rett Syndrome Using a Direct Reprogramming Method.
Stem cells and development - 1 Mar 2024
Huber Anna, Sarne Victoria, Beribisky Alexander V, Ackerbauer Daniela, Derdak Sophia, Madritsch Silvia, Etzler Julia, Huck Sigismund, Scholze Petra, Gorgulu Ilayda, Christodoulou John, Studenik Christian R, Neuhaus Winfried, Connor Bronwen, Laccone Franco, Steinkellner Hannes
Abstract excerpt
Rett Syndrome (RTT) is a severe neurodevelopmental disorder, afflicting 1 in 10,000 female births. It is caused by mutations in the X-linked methyl-CpG-binding protein gene (MECP2), which encodes for the global transcriptional regulator methyl CpG binding protein 2 (MeCP2). As human brain samples of RTT patients are scarce and cannot be used for downstream studies, there is a pressing need for in vitro modeling...
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