Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect

The endo-lysosomal two-pore channel (TPC2) has been established as an intracellular cation channel of significant physiological and pathophysiological relevance in recent years. For example, TPC2(-/-) mice show defects in cholesterol degradation, leading to hypercholesterinemia; TPC2 absence also re...

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Detalles Bibliográficos
Autores principales: Böck, Julia, Krogsaeter, Einar, Passon, Marcel, Chao, Yu-Kai, Sharma, Sapna, Grallert, Harald, Peters, Annette, Grimm, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7845996/
https://www.ncbi.nlm.nih.gov/pubmed/33465068
http://dx.doi.org/10.1371/journal.pgen.1009236

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7845996/
https://www.ncbi.nlm.nih.gov/pubmed/33465068
http://dx.doi.org/10.1371/journal.pgen.1009236

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