Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Nav1.5 α-subunits | Zendy

Jérôme Clatot | Zendy; Azza Ziyadeh-Isleem | Zendy; Svetlana Maugenre | Zendy; Isabelle Denjoy | Zendy; Haiyan Liu | Zendy; Gilles Dilanian | Zendy; Stéphane N. Hatem | Zendy; Isabelle Deschênes | Zendy; Alain Coulombe | Zendy; Pascale Guicheney | Zendy; Nathalie Neyroud | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Nav1.5 α-subunits

Author(s) -

Jérôme Clatot,

Azza Ziyadeh-Isleem,

Svetlana Maugenre,

Isabelle Denjoy,

Haiyan Liu,

Gilles Dilanian,

Stéphane N. Hatem,

Isabelle Deschênes,

Alain Coulombe,

Pascale Guicheney,

Nathalie Neyroud

Publication year - 2012

Publication title -

cardiovascular research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.774

H-Index - 219

eISSN - 1755-3245

pISSN - 0008-6363

DOI - 10.1093/cvr/cvs211

Subject(s) - mutant , endoplasmic reticulum , sodium channel , mutation , microbiology and biotechnology , immunocytochemistry , chemistry , immunoprecipitation , hek 293 cells , biology , genetics , gene , endocrinology , sodium , organic chemistry

Brugada syndrome (BrS) is an autosomal-inherited cardiac arrhythmia characterized by an ST-segment elevation in the right precordial leads of the electrocardiogram and an increased risk of syncope and sudden death. SCN5A, encoding the cardiac sodium channel Na(v)1.5, is the main gene involved in BrS. Despite the fact that several mutations have been reported in the N-terminus of Na(v)1.5, the functional role of this region remains unknown. We aimed to characterize two BrS N-terminal mutations, R104W and R121W, a construct where this region was deleted, ΔNter, and a construct where only this region was present, Nter.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research