Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Stem Cell, Cell Culture
DISEASE(S): Rett Syndrome
SUBMITTER: Suzy Varderidou
LAB HEAD: Maarten Altelaar
PROVIDER: PXD013327 | Pride | 2021-09-08
REPOSITORIES: Pride
Items per page: 1 - 5 of 56 |
Molecular autism 20200527 1
<h4>Background</h4>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 a ...[more]