Pre-clinical Investigation of Rett Syndrome Using Human Stem Cell-Based Disease Models.

ABSTRACT: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder, mostly caused by mutations in MECP2. The disorder mainly affects girls and it is associated with severe cognitive and physical disabilities. Modeling RTT in neural and glial cell cultures and brain organoids derived from patient- or mutation-specific human induced pluripotent stem cells (iPSCs) has advanced our understanding of the pathogenesis of RTT, such as disease-causing mechanisms, disease progression, and cellular and molecular pathology enabling the identification of actionable therapeutic targets. Brain organoid models that recapitulate much of the tissue architecture and the complexity of cell types in the developing brain, offer further unprecedented opportunity for elucidating human neural development, witho

SUBMITTER: Haase FD 

PROVIDER: S-EPMC8423999 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature