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Article

The fragile X mutation impairs homeostatic plasticity in human neurons by blocking synaptic retinoic acid signaling.

Science translational medicine - 1 Aug 2018

Zhang Zhenjie, Marro Samuele G, Zhang Yingsha, Arendt Kristin L, Patzke Christopher, Zhou Bo, Fair Tyler, Yang Nan, Südhof Thomas C, Wernig Marius, Chen Lu

Abstract excerpt

Fragile X syndrome (FXS) is an X chromosome-linked disease leading to severe intellectual disabilities. FXS is caused by inactivation of the fragile X mental retardation 1 (FMR1) gene, but how FMR1 inactivation induces FXS remains unclear. Using human neurons generated from control and FXS patient-derived induced pluripotent stem (iPS) cells or from embryonic stem cells carrying conditional FMR1 mutations, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 30068571
DOI: 10.1126/scitranslmed.aar4338
PMCID: PMC6317709

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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