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Article

Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome.

The Biochemical journal - 1 Aug 2010

Ross-Inta Catherine, Omanska-Klusek Alicja, Wong Sarah, Barrow Cedrick, Garcia-Arocena Dolores, Iwahashi Christine, Berry-Kravis Elizabeth, Hagerman Randi J, Hagerman Paul J, Giulivi Cecilia

Abstract excerpt

FXTAS (fragile X-associated tremor/ataxia syndrome) is a late-onset neurodegenerative disorder that affects individuals who are carriers of premutation expansions (55-200 CGG repeats) in the 5' untranslated region of the FMR1 (fragile X mental retardation 1) gene. The role of MD (mitochondrial dysfunction) in FXTAS was evaluated in fibroblasts and brain samples from premutation carriers with and without FXTAS...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Fragile X Mental Retardation Protein

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Source

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Identifiers

PMID: 20513237
DOI: 10.1042/BJ20091960
PMCID: PMC4011071

Genes

FMR1

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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