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Properties of the TRPML3 Channel Pore and Its Stable Expansion by the Varitint-Waddler-causing Mutation

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 po...

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Main Authors: Kim, Hyun Jin, Yamaguchi, Soichiro, Li, Qin, So, Insuk, Muallem, Shmuel
פורמט: Artigo
שפה:Inglês
יצא לאור: American Society for Biochemistry and Molecular Biology 2010
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC2878031/
https://ncbi.nlm.nih.gov/pubmed/20378547
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.078204
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