Deep functional measurements of Fragile X syndrome human neurons reveal multiparametric electrophysiological disease phenotype

Deep functional measurements of Fragile X syndrome human neurons reveal multiparametric electrophysiological disease phenotype

Abstract Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by hypermethylation of expanded CGG repeats (>200) in the FMR1 gene leading to gene silencing and loss of Fragile X Messenger Ribonucleoprotein (FMRP) expression. FMRP plays important roles in neuronal function, and loss of...

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Main Authors: James J. Fink, Nathaniel Delaney-Busch, Ryan Dawes, Evanthia Nanou, Christopher Folts, Karthiayani Harikrishnan, Chris Hempel, Hansini Upadhyay, Trinh Nguyen, Himali Shroff, David Stoppel, Steven J. Ryan, Jane Jacques, Jennifer Grooms, Elizabeth Berry-Kravis, Mark F. Bear, Luis A. Williams, David Gerber, Mark Bunnage, Brinley Furey, Graham T. Dempsey
Format: Article
Language:English
Published: Nature Portfolio 2024-11-01
Series:Communications Biology
Online Access:https://doi.org/10.1038/s42003-024-07120-6
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https://doi.org/10.1038/s42003-024-07120-6

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