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Article

β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles.

Scientific reports - 8 Jul 2016

Kraan C M, Cornish K M, Bui Q M, Li X, Slater H R, Godler D E

Abstract excerpt

Fragile X tremor ataxia syndrome (FXTAS) is a late-onset disorder manifesting in a proportion of FMR1 premutation individuals (PM: 55-199 CGG triplet expansions). FXTAS is associated with elevated levels of FMR1 mRNA which are toxic. In this study, relationships between neurocognitive and intra-step gait variability measures with mRNA levels, measured in blood samples, were examined in 35 PM and 35 matched...

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

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Source

Open in PubMed Open full text

Identifiers

PMID: 27387142
DOI: 10.1038/srep29366
PMCID: PMC4937393

Genes

FMR1
SDHA

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles.PMID 27387142Read ↗

Altered expression of the FMR1 splicing variants landscape in premutation carriers.Semantic proximity Read ↗

Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.Semantic proximity Read ↗

Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations.Semantic proximity Read ↗

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.Semantic proximity Read ↗

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.Semantic proximity Read ↗

Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathwaysSemantic proximity Read ↗

A fragile balance: FMR1 expression levels.Semantic proximity Read ↗

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene.Semantic proximity Read ↗

Evidence linking FMR1 mRNA and attentional demands of stepping and postural control in women with the premutation.Semantic proximity Read ↗

Elevated FMR1 mRNA in premutation carriers is due to increased transcription.Semantic proximity Read ↗

Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways.Semantic proximity Read ↗

Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia.Semantic proximity Read ↗

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