Article
MeCP2 gene therapy ameliorates disease phenotype in mouse model for Pitt Hopkins syndrome.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics - 1 Sept 2024
Dennys Cassandra N, Vermudez Sheryl Anne D, Deacon Robert J M, Sierra-Delgado J Andrea, Rich Kelly, Zhang Xiaojin, Buch Aditi, Weiss Kelly, Moxley Yuta, Rajpal Hemangi, Espinoza Francisca D, Powers Samantha, Ávila Ariel S, Gogliotti Rocco G, Cogram Patricia, Niswender Colleen M, Meyer Kathrin C
Abstract excerpt
The neurodevelopmental disorder Pitt Hopkins syndrome (PTHS) causes clinical symptoms similar to Rett syndrome (RTT) patients. However, RTT is caused by MECP2 mutations whereas mutations in the TCF4 gene lead to PTHS. The mechanistic commonalities underling these two disorders are unknown, but their shared symptomology suggest that convergent pathway-level disruption likely exists. We reprogrammed patient skin...
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