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Article

Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia.

Biochimica et biophysica acta - 1 Jul 2012

Kumari Daman, Lokanga Rachel, Yudkin Dmitry, Zhao Xiao-Nan, Usdin Karen

Abstract excerpt

The Fragile X-associated disorders (FXDs) and Friedreich ataxia (FRDA) are genetic conditions resulting from expansion of a trinucleotide repeat in a region of the affected gene that is transcribed but not translated. In the case of the FXDs, pathology results from expansion of CGG•CCG-repeat tract in the 5' UTR of the FMR1 gene, while pathology in FRDA results from expansion of a GAA•TTC-repeat in intron 1 of...

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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

Open in PubMed Open full text

Identifiers

PMID: 22245581
DOI: 10.1016/j.bbagrm.2011.12.009
PMCID: PMC3370136

Genes

FXN
FMR1
GAA

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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