Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.

doi:10.1159/000094137

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Article

Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology - 1 Jan 2006

Dossena Silvia, Vezzoli Valeria, Cerutti Nadia, Bazzini Claudia, Tosco Marisa, Sironi Chiara, Rodighiero Simona, Meyer Giuliano, Fascio Umberto, Fürst Johannes, Ritter Markus, Fugazzola Laura, Persani Luca, Zorowka Patrick, Storelli Carlo, Beck-Peccoz Paolo, Bottà Guido, Paulmichl Markus

Abstract excerpt

BACKGROUND: Malfunction of the SLC26A4 protein leads to prelingual deafness often associated with mild thyroid dysfunction and goiter. It is assumed that SLC26A4 acts as a chloride/anion exchanger responsible for the iodide organification in the thyroid gland, and conditioning of the endolymphatic fluid in the inner ear. METHODS: Chloride uptake studies were made using HEK293-Phoenix cells expressing human wild...

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PMID: 16791000
DOI: 10.1159/000094137

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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