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Article

Lack of Plakoglobin in Epidermis Leads to Keratoderma

9 Feb 2012

Abstract excerpt

Loss-of-function mutation of Jup has been associated with Naxos disease, which is characterized by arrhythmogenic cardiomyopathy and the cutaneous disorder palmoplantar keratoderma. Previously, we have shown that genetic ablation of Jup in cardiomyocytes in mice leads to arrhythmogenic cardiomyopathy similar to Naxos disease in humans. Currently, to determine the pathogenesis of Naxos disease-associated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 22315228
DOI: 10.1074/jbc.m111.299669

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Related research

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Research trail→

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Lack of Plakoglobin in Epidermis Leads to KeratodermaPMID 22315228Read ↗

Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathySemantic proximity Read ↗

Generation of a CRISPR/Cas9-edited Plakoglobin (JUP) knock-out (JMUi001-A-4) iPSC line to model the cardiac phenotype of arrhythmogenic cardiomyopathy.Semantic proximity Read ↗

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Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.Semantic proximity Read ↗

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Normalization of Naxos plakoglobin levels restores cardiac function in mice.Semantic proximity Read ↗

The palmoplantar keratodermas: much more than palms and soles.Semantic proximity Read ↗

Suppressing AP1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype.Semantic proximity Read ↗

Cardiac Tissue-Restricted Deletion of Plakoglobin Results in Progressive Cardiomyopathy and Activation of β-Catenin SignalingSemantic proximity Read ↗

Naxos Disease and Related Cardio-Cutaneous SyndromesSemantic proximity Read ↗

Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entitySemantic proximity Read ↗

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