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Article

Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.

Human molecular genetics - 15 Mar 2016

Allen Edwin H A, Courtney David G, Atkinson Sarah D, Moore Johnny E, Mairs Laura, Poulsen Ebbe Toftgaard, Schiroli Davide, Maurizi Eleonora, Cole Christian, Hickerson Robyn P, James John, Murgatroyd Helen, Smith Frances J D, MacEwen Carrie, Enghild Jan J, Nesbit M Andrew, Leslie Pedrioli Deena M, McLean W H Irwin, Moore C B Tara

Abstract excerpt

Meesmann epithelial corneal dystrophy (MECD) is a rare autosomal dominant disorder caused by dominant-negative mutations within the KRT3 or KRT12 genes, which encode the cytoskeletal protein keratins K3 and K12, respectively. To investigate the pathomechanism of this disease, we generated and phenotypically characterized a novel knock-in humanized mouse model carrying the severe, MECD-associated, K12-Leu132Pro...

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Share to Apoptosis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mice, Transgenic

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Source

Open in PubMed Open full text

Identifiers

PMID: 26758872
DOI: 10.1093/hmg/ddw001
PMCID: PMC4764196

Genes

KRT12
KRT3

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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