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Article

Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes.

Neurobiology of disease - 1 May 2014

Mateu-Huertas Elisabet, Rodriguez-Revenga Laia, Alvarez-Mora Maria Isabel, Madrigal Irene, Willemsen Rob, Milà Montserrat, Martí Eulàlia, Estivill Xavier

Abstract excerpt

Male premutation carriers presenting between 55 and 200 CGG repeats in the Fragile-X-associated (FMR1) gene are at risk of developing Fragile X Tremor/Ataxia Syndrome (FXTAS), and females undergo Premature Ovarian Failure (POF1). Here, we have evaluated gene expression profiles from blood in male FMR1 premutation carriers and detected a strong deregulation of genes enriched in FXTAS relevant biological pathways,...

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Source

Identifiers

PMID: 24418349
DOI: 10.1016/j.nbd.2013.12.020

Genes

FMR1
APP
ATXN3
ATXN7
DFFA
HDAC5
KCNC3
RNF10
SOD1

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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