Literature DB >> 30579426

KLHL24: Beyond Skin Fragility.

Maria C Bolling1, Marcel F Jonkman2.   

Abstract

KLHL24 mutations have recently been associated with epidermolysis bullosa simplex. Initial studies focused on skin fragility. However, the picture of KLHL24 mutations causing extracutaneous human disease is emerging, with dilated cardiomyopathy as a strong association. In addition, neurological disease is suspected as well. Careful clinical follow-up and functional studies of (mutated) KLHL24 in these tissues are needed.
Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

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Year:  2019        PMID： 30579426     DOI： 10.1016/j.jid.2018.08.010

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


  3 in total

1.  Eye Involvement and Management in Inherited Epidermolysis Bullosa.

Authors:  Yasmine Bachir; Alejandra Daruich; Couanon Marie; Matthieu P Robert; Dominique Bremond-Gignac
Journal:  Drugs       Date:  2022-09-08       Impact factor: 11.431

2.  Cardiac transplant for epidermolysis bullosa simplex with KLHL24 mutation-associated cardiomyopathy.

Authors:  Erica Ann Grilletta
Journal:  JAAD Case Rep       Date:  2019-10-07

3.  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.

Authors:  Elena Logli; Elisa Marzuolo; Marco D'Agostino; Libenzio Adrian Conti; Anna Maria Lena; Andrea Diociaiuti; Elena Dellambra; Cristina Has; Valentina Cianfanelli; Giovanna Zambruno; May El Hachem; Alessandra Magenta; Eleonora Candi; Angelo Giuseppe Condorelli
Journal:  Hum Mol Genet       Date:  2022-04-22       Impact factor: 5.121
  3 in total

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