Article
Properties of the TRPML3 channel pore and its stable expansion by the Varitint-Waddler-causing mutation.
The Journal of biological chemistry - 28 May 2010
Kim Hyun Jin, Yamaguchi Soichiro, Li Qin, So Insuk, Muallem Shmuel
Abstract excerpt
TRPML3 is a H(+)-regulated Ca(2+) channel that shuttles between intracellular compartments and the plasma membrane. The A419P mutation causes the varitint-waddler phenotype as a result of gain-of-function (GOF). The mechanism by which A419P leads to GOF is not known. Here, we show that the TRPML3 pore is dynamic when conducting Ca(2+) to change its conductance and permeability, which appears to be mediated by...
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