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Article

Loss of function and impaired degradation of a cataract-associated mutant connexin50.

European journal of cell biology - 1 May 2003

Berthoud Viviana M, Minogue Peter J, Guo Jun, Williamson Edward K, Xu Xiaorong, Ebihara Lisa, Beyer Eric C

Abstract excerpt

A mutant human connexin50 (hCx50), hCx50P88S, has been linked to cataracts inherited as an autosomal dominant trait. The functional, biochemical and cellular behavior of wild-type and mutant hCx50 were examined in transfected cells. hCx50P88S was unable to induce gap junctional currents by itself...

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Identifiers

PMID: 12800976
DOI: 10.1078/0171-9335-00316
PMCID: PMC2763359

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12800976-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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