Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.

doi:10.1093/hmg/ddab318

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Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.

Human molecular genetics - 22 Apr 2022

Logli Elena, Marzuolo Elisa, D'Agostino Marco, Conti Libenzio Adrian, Lena Anna Maria, Diociaiuti Andrea, Dellambra Elena, Has Cristina, Cianfanelli Valentina, Zambruno Giovanna, El Hachem May, Magenta Alessandra, Candi Eleonora, Condorelli Angelo Giuseppe

Abstract excerpt

Epidermolysis bullosa simplex (EBS) with cardiomyopathy (EBS-KLHL24) is an EBS subtype caused by dominantly inherited, gain-of-function mutations in the gene encoding for the ubiquitin-ligase KLHL24, which addresses specific proteins to proteasomal degradation. EBS-KLHL24 patients are born with extensive denuded skin areas and skin fragility. Whilst skin fragility rapidly ameliorates, atrophy and scarring develop...

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PMID: 34740256
DOI: 10.1093/hmg/ddab318
PMCID: PMC9029237

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Source receipt: pubmed, retrieved 7 Sept 2026.

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