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Article

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia.

Proceedings of the National Academy of Sciences of the United States of America - 27 Feb 2007

Duriez Bénédicte, Duquesnoy Philippe, Escudier Estelle, Bridoux Anne-Marie, Escalier Denise, Rayet Isabelle, Marcos Elisabeth, Vojtek Anne-Marie, Bercher Jean-François, Amselem Serge

Abstract excerpt

Thioredoxins belong to a large family of enzymatic proteins that function as general protein disulfide reductases, therefore participating in several cellular processes via redox-mediated reactions. So far, none of the 18 members of this family has been involved in human pathology. Here we identi...

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Identifiers

PMID: 17360648
DOI: 10.1073/pnas.0611405104
PMCID: PMC1805560

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17360648-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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