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Effect of PCDH19 missense mutations on cell-to-cell proximity and neuronal development under heterotypic conditions by Nami Motosugi; Akiko Sugiyama; Asako Otomo; Yuka Sakata; Takuma Araki; Shinji Hadano; Natsuhiko Kumasaka; Atsushi Fukuda is a Social Sciences article available to read on EtoBox.
What is Effect of PCDH19 missense mutations on cell-to-cell proximity and neuronal development under heterotypic conditions about?
## Abstract The mutation of the X-linked protocadherin (PCDH) 19 gene in heterozygous females causes epilepsy. However, because of the erosion of X-chromosome inactivation (XCI) in female human pluripotent stem cells, precise disease modeling often leads to failure. In this study, using a mathematical approach and induced pluripotent stem cells retaining XCI derived from patients with PCDH19 missense mutations, we found that heterotypic conditions, which are composed of wild-type and missense PCDH19, led to significant cell-to-cell proximity and impaired neuronal differentiation, accompanied by the aberrant accumulation of doublecortin, a microtubule-associated protein. Our findings suggest that ease of adhesion between cells expressing either wild-type or missense PCDH19 might lead to aberrant cell aggregation in early embryonic phases, causing poor neuronal development.
Who reads Effect of PCDH19 missense mutations on cell-to-cell proximity and neuronal development under heterotypic conditions?
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- Author
- Nami Motosugi; Akiko Sugiyama; Asako Otomo; Yuka Sakata; Takuma Araki; Shinji Hadano; Natsuhiko Kumasaka; Atsushi Fukuda
- Publisher
- Oxford University Press
- Published
- 2024
- Language
- EN
- Field
- Social Sciences