The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca(2+) handling

Mutations in the Lamin A/C gene (LMNA), which encodes A‐type nuclear Lamins, represent the most frequent genetic cause of dilated cardiomyopathy (DCM). This study is focused on a LMNA nonsense mutation (R321X) identified in several members of an Italian family that produces a truncated protein isofo...

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Bibliografiska uppgifter
I publikationen:J Cell Mol Med
Huvudupphovsmän: Carmosino, Monica, Gerbino, Andrea, Schena, Giorgia, Procino, Giuseppe, Miglionico, Rocchina, Forleo, Cinzia, Favale, Stefano, Svelto, Maria
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2016
Ämnen:
Original Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5082401/
https://ncbi.nlm.nih.gov/pubmed/27421120
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jcmm.12926
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