Article

MOG1 restores the expression and function of SCN5A-p.R104W through sec23a-mediated forward trafficking

2020-11-01

Abstract excerpt

Abstract Background Brugada syndrome (BrS) is an inherited disease which causes fatal arrhythmias and sudden cardiac death. Mutations in SCN5A gene, which encoding cardiac sodium channel (NaV1.5), are the most common genotype of BrS patients. Some SCN5A-related variants were reported to retain NaV1.5 in endoplasmic reticulum (ER) due to trafficking deficiency. MOG1 was previously reported to interact with NaV1.5 a...

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Literature Corpus work: 3901d597-dd3a-5c4b-8d5d-bfc1eba1b971
DOI: 10.1093/ehjci/ehaa946.0344

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