期刊
JOURNAL OF INVESTIGATIVE DERMATOLOGY
卷 137, 期 6, 页码 1211-1212出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jid.2017.02.011
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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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