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Article

Molecular dynamics simulations show how the FMRP Ile304Asn mutation destabilizes the KH2 domain structure and affects its function.

Journal of biomolecular structure & dynamics - 1 Jan 2014

Di Marino Daniele, Achsel Tilmann, Lacoux Caroline, Falconi Mattia, Bagni Claudia

Abstract excerpt

Mutations or deletions of FMRP, involved in the regulation of mRNA metabolism in brain, lead to the Fragile X syndrome (FXS), the most frequent form of inherited intellectual disability. A severe manifestation of the disease has been associated with the Ile304Asn mutation, located on the KH2 domain of the protein. Several hypotheses have been proposed to explain the possible molecular mechanism responsible for...

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Source

Identifiers

PMID: 23527791
DOI: 10.1080/07391102.2013.768552

Genes

PAK1

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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