Rett Syndrome: A History of Research and Therapeutic Outlooks
Type
Blog Post
Published
Nov. 19, 2020, 2:15 p.m.
...mutations in the MECP2 gene leading to Rett Syndrome (Amir et al., 1999). We now know that MECP2 binds to methylated.... Loss of MECP2 in adult animal models results in rapid symptom onset, suggesting that MECP2 is also essential...parts of MECP2 influence Rett Syndrome. Zoghbi’s lab found that a small DNA binding motif in MECP2 interacts...different MECP2 mutations. More recently, the Bird lab found that only a portion of the MECP2 protein is... Rett Syndrome
MECP2 follows the “Goldilocks” principle, in which too much of the MECP2 protein is as ...
Figure 1: Schematic of the human MECP2 locus and MECP2 protein, showing mutations corrected by ...system to both precisely insert the MECP2-R270X mutation into the MECP2 gene in wild-type human iPSCs and...