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- W2912261447 abstract "Here we report the first cases of mutations in TRPM4 which encodes TRP melastatin 4 (TRPM4), a Ca2+-activated monovalent cation channel, as a cause of an autosomal-dominant form of progressive symmetric erythrokeratoderma (PSEK). In three separate families with PSEK, we identified two missense mutations (c.3099C>G and c.3119T>C) that produce I1033M and I1040T, both of which are located in the S6 transmembrane domain of TRPM4 protein. The substitutions are expected to directly affect activation gating of TRPM4 according to the cryo-EM structures. Electrophysiological studies of the mutants showed substantial hyperactivity, as evidenced by pronounced baseline activity, enhanced sensitivity to intracellular Ca2+, and an elevated resting membrane potential. In vitro studies revealed enhanced proliferation in keratinocytes overexpressing either of the mutants. We also detected an upregulationof markers for proliferation and differentiation of keratinocytes in the affected skin tissues. Our study identified TRPM4as a new player in the pathogenesis of skin TRP channelopathies, as well as a potential target for treatment of skin hyperkeratotic disorders." @default.
- W2912261447 created "2019-02-21" @default.
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- W2912261447 date "2019-02-01" @default.
- W2912261447 modified "2023-09-29" @default.
- W2912261447 title "Gain-Of-Function Mutationsin TRPM4 Activation Gate Cause Skin Disease PSEK" @default.
- W2912261447 doi "https://doi.org/10.1016/j.bpj.2018.11.2440" @default.
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