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Article

Novel small molecule-mediated restoration of the surface expression and anion exchange activity of mutated pendrin causing Pendred syndrome and DFNB4.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie - 1 Nov 2023

Jung Jinsei, Noh Shin Hye, Jo Sungwoo, Song Doona, Kang Min Jin, Shin Mi Hwa, Lee Hyun Jae, Pyun Jae-Chul, Namkung Wan, Han Gyoonhee, Lee Min Goo, Choi Jae Young

Abstract excerpt

Variants in SLC26A4 (pendrin) are the most common reasons for genetic hearing loss and vestibular dysfunction in East Asians. In patients with Pendred syndrome and DFNB4 (autosomal recessive type of genetic hearing loss 4), caused by variants in SLC26A4, the hearing function is residual at birth and deteriorates over several years, with no curative treatment for these disorders. In the present study, we revealed...

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Identifiers

PMID: 37690388
DOI: 10.1016/j.biopha.2023.115445

Genes

SLC26A4

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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