The role of mutant protein level in autosomal recessive catecholamine dependent polymorphic ventricular tachycardia (CPVT2)

Humans and genetically engineered mice with recessively inherited CPVT develop arrhythmia which may arise due to malfunction or degradation of calsequestrin (CASQ2). We investigated the relation between protein level and arrhythmia severity in CASQ2(D307H/D307H) (D307H), compared to CASQ2(Δ/Δ) (KO)...

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Detalhes bibliográficos
Main Authors: Katz, Guy, Shainberg, Asher, Hochhauser, Edith, Kurtzwald-Josefson, Efrat, Issac, Ahuva, El-Ani, Dalia, Aravot, Dan, Afek, Arnon, Seidman, Jonathan G., Seidman, Christine E., Eldar, Michael, Arad, Michael
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4103182/
https://ncbi.nlm.nih.gov/pubmed/24070655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bcp.2013.09.012
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