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Article

Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells.

Experimental neurology - 1 Oct 2004

Schrier Mariëtte, Severijnen Lies-Anne, Reis Surya, Rife Maria, van't Padje Sandra, van Cappellen Gert, Oostra Ben A, Willemsen Rob

Abstract excerpt

Lack of fragile X mental retardation protein (FMRP) causes the fragile X syndrome, a common form of inherited mental retardation. The syndrome usually results from the expansion of a CGG repeat in the FMR1 gene with consequent transcriptional silencing of FMR1. However, one missense mutation (Ile...

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Source

Identifiers

PMID: 15380484
DOI: 10.1016/j.expneurol.2004.05.039

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15380484-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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