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Article

In vivo neuronal function of the fragile X mental retardation protein is regulated by phosphorylation.

Human molecular genetics - 15 Feb 2012

Coffee R Lane, Williamson Ashley J, Adkins Christopher M, Gray Marisa C, Page Terry L, Broadie Kendal

Abstract excerpt

Fragile X syndrome (FXS), caused by loss of the Fragile X Mental Retardation 1 (FMR1) gene product (FMRP), is the most common heritable cause of intellectual disability and autism spectrum disorders. It has been long hypothesized that the phosphorylation of serine 500 (S500) in human FMRP controls its function as an RNA-binding translational repressor. To test this hypothesis in vivo, we employed neuronally...

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Identifiers

PMID: 22080836
DOI: 10.1093/hmg/ddr527
PMCID: PMC3263990

Genes

FMR1

Variants

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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