Single-nucleus profiling reveals a core disease signature and cell type–specific vulnerabilities in early Rett syndrome
Yan Li, Ashley G. Anderson, Guantong Qi, Sih-Rong Wu, Jean-Pierre Revelli, Hu Chen, Zhandong Liu, Huda Y. Zoghbi · 2026
Read Single-nucleus profiling reveals a core disease signature and cell type–specific vulnerabilities in early Rett syndrome by Yan Li, Ashley G. Anderson, Guantong Qi, Sih-Rong Wu, Jean-Pierre Revelli, Hu Chen, Zhandong Liu, Huda Y. Zoghbi (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13251834.txt.
Description
Yan Li and colleagues profile single brain cells in early Rett syndrome in this 2026 study. The disorder stems from faults in a gene on the X chromosome, so girls carry a mix of working and faulty cells while boys carry only faulty ones.
Reading gene activity cell by cell in young mice, the team found a core set of mis-set genes present only in faulty cells, in both sexes. In females, even the healthy nerve cells behaved oddly, showing the mix itself strains circuits early. One small class of calming nerve cells was the most disturbed of all. The work separates effects of the faulty gene from effects of the mosaic mix.
Catalog record
| CREATOR | Yan Li, Ashley G. Anderson, Guantong Qi, Sih-Rong Wu, Jean-Pierre Revelli, Hu Chen, Zhandong Liu, Huda Y. Zoghbi |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 72606 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |