Quantitative proteomic analysis of Rett iPSC-derived neuronal progenitors.

ABSTRACT:

Background

Rett syndrome (RTT) is a progressive neurodevelopmental disease that is characterized by abnormalities in cognitive, social, and motor skills. RTT is often caused by mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2). The mechanism by which impaired MeCP2 induces the pathological abnormalities in the brain is not understood. Both patients and mouse models have shown abnormalities at molecular and cellular level before typical RTT-associated symptoms appear. This implies that underlying mechanisms are already affected during neurodevelopmental stages.

Methods

To understand the molecular mechanisms involved in disease onset, we used an RTT patient induced pluripotent stem cell (iPSC)-based model with isogenic controls and performed time-ser

SUBMITTER: Varderidou-Minasian S 

PROVIDER: S-EPMC7251722 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature