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Article

Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.

Gene - 15 Jun 2007

Entezam Ali, Biacsi Rea, Orrison Bonnie, Saha Tapas, Hoffman Gloria E, Grabczyk Ed, Nussbaum Robert L, Usdin Karen

Abstract excerpt

Carriers of FMR1 alleles with 55-200 repeats in the 5' UTR are at risk for Fragile X associated tremor and ataxia syndrome. The cause of the neuropathology is unknown but is thought to be RNA-mediated. Maternally transmitted premutation alleles are also at risk of expansion of the repeat tract into the "full mutation" range (>200 repeats). The mechanism responsible for expansion is unknown. Full mutation alleles...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Fragile X Mental Retardation Protein

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Source

Open in PubMed Open full text

Identifiers

PMID: 17442505
DOI: 10.1016/j.gene.2007.02.026
PMCID: PMC1950257

Genes

FMR1

Provenance

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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