Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy

Mutation of the LMNA gene, encoding nuclear lamin A and lamin C (hereafter lamin A/C), is a common cause of familial dilated cardiomyopathy (DCM). Among Finnish DCM patients, the founder mutation c.427T>C (p.S143P) is the most frequently reported genetic variant. Here, we show that p.S143P lamin...

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Библиографические подробности
Опубликовано в: :J Cell Sci
Главные авторы: West, Gun, Gullmets, Josef, Virtanen, Laura, Li, Song-Ping, Keinänen, Anni, Shimi, Takeshi, Mauermann, Monika, Heliö, Tiina, Kaartinen, Maija, Ollila, Laura, Kuusisto, Johanna, Eriksson, John E., Goldman, Robert D., Herrmann, Harald, Taimen, Pekka
Формат: Artigo
Язык:Inglês
Опубликовано: The Company of Biologists Ltd 2016
Предметы:
Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4958296/
https://ncbi.nlm.nih.gov/pubmed/27235420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/jcs.184150
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