The "Kelch" Surprise: KLHL24,Â aÂ NewÂ Player in the Pathogenesis ofÂ Skin Fragility.

J Invest Dermatol. 2017 Jun;137(6):1211-1212

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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.

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The "Kelch" Surprise: KLHL24,Â aÂ NewÂ Player in the Pathogenesis ofÂ Skin Fragility.

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