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Article

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

Communications biology - 6 Nov 2024

Fink James J, Delaney-Busch Nathaniel, Dawes Ryan, Nanou Evanthia, Folts Christopher, Harikrishnan Karthiayani, Hempel Chris, Upadhyay Hansini, Nguyen Trinh, Shroff Himali, Stoppel David, Ryan Steven J, Jacques Jane, Grooms Jennifer, Berry-Kravis Elizabeth, Bear Mark F, Williams Luis A, Gerber David, Bunnage Mark, Furey Brinley, Dempsey Graham T

Abstract excerpt

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 FMRP in mouse and human FXS cell models leads to aberrant synaptic signaling and hyperexcitability. Multiple drug candidates...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39506078
DOI: 10.1038/s42003-024-07120-6
PMCID: PMC11541539

Genes

FMR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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