The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins
- 1 November 2013
- journal article
- research article
- Published by Elsevier in Experimental Cell Research
- Vol. 319 (19) , 3010-3019
Abstract
No abstract availableKeywords
This publication has 26 references indexed in Scilit:
- Regulation of prelamin A but not lamin C by miR-9, a brain-specific microRNAProceedings of the National Academy of Sciences, 2012
- Subcellular Localization of SUN2 Is Regulated by Lamin A and Rab5PLOS ONE, 2011
- Downregulation of lamin A by tumor suppressor AIMP3/p18 leads to a progeroid phenotype in miceAging Cell, 2010
- A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac deathHeart Rhythm, 2009
- MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantificationNature Biotechnology, 2008
- Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatinGenes & Development, 2008
- Nomenclature for the description of human sequence variationsHuman Genetics, 2001
- Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System DiseaseNew England Journal of Medicine, 1999
- A Regulatory Mechanism That Detects Premature Nonsense Codons in T-cell Receptor Transcripts in Vivo Is Reversed by Protein Synthesis Inhibitors in VitroJournal of Biological Chemistry, 1995
- Isoprenylation is required for the processing of the lamin A precursor.Journal of Cell Biology, 1990