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

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 characterized...

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Detalles Bibliográficos
Autores principales: Schweitzer, George G., Gan, Connie, Bucelli, Robert C., Wegner, Daniel, Schmidt, Robert E., Shinawi, Marwan, Finck, Brian N., Brookheart, Rita T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625134/
https://www.ncbi.nlm.nih.gov/pubmed/31070020
http://dx.doi.org/10.1002/mgg3.733

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625134/
https://www.ncbi.nlm.nih.gov/pubmed/31070020
http://dx.doi.org/10.1002/mgg3.733

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