The "Kelch" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility.

Cristina Has

The Journal of investigative dermatology 2017 Jun

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A new protein, kelch-like 24, has recently been associated with a distinct subtype of epidermolysis bullosa simplex, a heterogeneous group of disorders associated with mechanical fragility of epidermal keratinocytes. All mutations involve the translation initiation codon and lead to a degradation-resistant N-terminally truncated kelch-like 24. Kelch-like 24 appears to be involved in the turnover of intermediated filaments, in particular of keratin 14, in keratinocytes. Copyright © 2017 The Author. Published by Elsevier Inc. All rights reserved.

Citation

Cristina Has. The "Kelch" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility. The Journal of investigative dermatology. 2017 Jun;137(6):1211-1212