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Article

Conformational stability of human frataxin and effect of Friedreich's ataxia-related mutations on protein folding.

The Biochemical journal - 15 Sept 2006

Correia Ana R, Adinolfi Salvatore, Pastore Annalisa, Gomes Cláudio M

Abstract excerpt

The neurodegenerative disorder FRDA (Friedreich's ataxia) results from a deficiency in frataxin, a putative iron chaperone, and is due to the presence of a high number of GAA repeats in the coding regions of both alleles of the frataxin gene, which impair protein expression. However, some FRDA pa...

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Identifiers

PMID: 16787388
DOI: 10.1042/BJ20060345
PMCID: PMC1559467

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16787388-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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