Article

Disease-associated mutations in TRPM3 render the channel overactive via two distinct mechanisms

2020-04-22

Abstract excerpt

<h4>ABSTRACT</h4> Transient Receptor Potential Melastatin 3 (TRPM3) is a Ca 2+ permeable non-selective cation channel activated by heat and chemical agonists such as pregnenolone sulfate and CIM0216. TRPM3 mutations in humans were recently reported to be associated with intellectual disability and epilepsy; the functional effects of those mutations however were not reported. Here we show that both disease-associ...

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Literature Corpus work: c4ff3333-7e8b-5e97-86db-2d5ca9869183
DOI: 10.1101/2020.04.20.052167

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