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Article

DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome.

Biomolecules - 16 Feb 2021

Nobile Veronica, Pucci Cecilia, Chiurazzi Pietro, Neri Giovanni, Tabolacci Elisabetta

Abstract excerpt

Among the inherited causes of intellectual disability and autism, Fragile X syndrome (FXS) is the most frequent form, for which there is currently no cure. In most FXS patients, the FMR1 gene is epigenetically inactivated following the expansion over 200 triplets of a CGG repeat (FM: full mutation). FMR1 encodes the Fragile X Mental Retardation Protein (FMRP), which binds several mRNAs, mainly in the brain. When...

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Identifiers

PMID: 33669384
DOI: 10.3390/biom11020296
PMCID: PMC7920310

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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