Article
Identification of novel small molecule compounds with readthrough activity in Nagashima-type palmoplantar keratosis.
Journal of dermatological science - 1 Jun 2026
Peh Jin Teng, Sugiyama Takato, Nobuta Risa, Miyauchi Toshinari, Suzuki Shotaro, Takeda Masae, Ohguchi Yuka, Ujiie Hideyuki, Nomura Toshifumi
Abstract excerpt
BACKGROUND: Nagashima-type palmoplantar keratosis (NPPK), the most common form of hereditary palmoplantar keratodermas in East Asian populations, is caused by biallelic loss-of-function mutations in SERPINB7 such as p.Arg266Ter (c.796 C>T). This mutation introduces a premature termination codon (PTC). Given the minimal efficacy of current drugs in improving NPPK skin phenotypes, we applied readthrough therapy to...
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