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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Kim, Hyun Jin, Li, Qin, Tjon-Kon-Sang, Sandra, So, Insuk, Kiselyov, Kirill, Soyombo, Abigail A, Muallem, Shmuel
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2008
Pynciau:
Article
Mynediad Ar-lein: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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