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A novel mode of TRPML3 regulation by extracytosolic pH absent in the varitint-waddler phenotype
TRPML3 belongs to the TRPML subfamily of the transient receptor potential (TRP) channels. The A419P mutation in TRPML3 causes the varitint-waddler phenotype as a result of gain-of-function mutation (GOF). Regulation of the channels and the mechanism by which the A419P mutation leads to GOF are not k...
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| Huvudupphovsmän: | , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Nature Publishing Group
2008
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2367400/ https://ncbi.nlm.nih.gov/pubmed/18369318 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/emboj.2008.56 |
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