TPC2 polymorphisms associated with a hair pigmentation phenotype in humans result in gain of channel function by independent mechanisms

Two-pore channels (TPCs) are endolysosomal cation channels. Two members exist in humans, TPC1 and TPC2. Functional roles associated with the ubiquitously expressed TPCs include VEGF-induced neoangiogenesis, LDL-cholesterol trafficking and degradation, physical endurance under fasting conditions, aut...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Chao, Yu-Kai, Schludi, Verena, Chen, Cheng-Chang, Butz, Elisabeth, Nguyen, O. N. Phuong, Müller, Martin, Krüger, Jens, Kammerbauer, Claudia, Ben-Johny, Manu, Vollmar, Angelika M., Berking, Carola, Biel, Martin, Wahl-Schott, Christian A., Grimm, Christian
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2017
Assuntos:
PNAS Plus
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5642689/
https://ncbi.nlm.nih.gov/pubmed/28923947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1705739114
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