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A mutation in Site‐1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema

Abstract Background Site‐1 Protease (S1P) is a Golgi‐resident protein required for the activation of regulatory proteins that drive key cellular functions, including, the unfolded protein response (UPR) and lipid and cholesterol biosynthesis. While disruptions in S1P function have been widely charac...

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Principais autores: George G. Schweitzer, Connie Gan, Robert C. Bucelli, Daniel Wegner, Robert E. Schmidt, Marwan Shinawi, Brian N. Finck, Rita T. Brookheart
Format: Artigo
Sprog:Inglês
Udgivet: Wiley 2019-07-01
Serier:Molecular Genetics & Genomic Medicine
Fag:
ER stress
hyperCKemia
MBTPS1
myoedema
PCOS
Site‐1 Protease
Online adgang:https://doi.org/10.1002/mgg3.733
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