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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:J Cell Sci
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Company of Biologists Ltd 2016
Konular:
Research Article
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller