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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Autori principali:	George G. Schweitzer, Connie Gan, Robert C. Bucelli, Daniel Wegner, Robert E. Schmidt, Marwan Shinawi, Brian N. Finck, Rita T. Brookheart
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2019-07-01
Serie:	Molecular Genetics & Genomic Medicine
Soggetti:	ER stress hyperCKemia MBTPS1 myoedema PCOS Site‐1 Protease
Accesso online:	https://doi.org/10.1002/mgg3.733
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