Graded and pan-neural disease phenotypes of Rett Syndrome linked with dosage of functional MeCP2.

doi:10.1007/s13238-020-00773-z

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Article

Graded and pan-neural disease phenotypes of Rett Syndrome linked with dosage of functional MeCP2.

Protein & cell - 1 Aug 2021

Chen Xiaoying, Han Xu, Blanchi Bruno, Guan Wuqiang, Ge Weihong, Yu Yong-Chun, Sun Yi E

Abstract excerpt

Rett syndrome (RTT) is a progressive neurodevelopmental disorder, mainly caused by mutations in MeCP2 and currently with no cure. We report here that neurons from R106W MeCP2 RTT human iPSCs as well as human embryonic stem cells after MeCP2 knockdown exhibit consistent and long-lasting impairment in maturation as indicated by impaired action potentials and passive membrane properties as well as reduced soma size...

Topics

Action Potentials
Base Sequence
Cell Differentiation
Fibroblasts
Gene Dosage
Gene Expression
Gene Knockdown Techniques
Genetic Complementation Test
Human Embryonic Stem Cells
Humans
Induced Pluripotent Stem Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Methyl-CpG-Binding Protein 2

Neural Stem Cells

Neurons

Phenotype

Primary Cell Culture

Prosencephalon

Rett Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 32851591
DOI: 10.1007/s13238-020-00773-z
PMCID: PMC8310543

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