ArticleJournal of cellular and molecular medicine2016
The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca
Article in Journal of cellular and molecular medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 20 citations in OpenAlex.
- The risk of nephrotic range proteinuria and kidney failure in primary laminopathies is genotype specific.JCI insight · 2026Article
- Organelle network dysfunction in primary cardiomyopathy: An integrated perspective on pathogenesis and therapeutics.Journal of molecular and cellular cardiology plus · 2026Review
- Aglianico Grape Pomace Extract Reduces Cardiac Pacemaker Activity by Decreasing Hyperpolarization-Activated Current Density Independently of cAMP Signaling.Life (Basel, Switzerland) · 2026Article
- The effects of sodium-glucose cotransporter 2 inhibitors on the 'forgotten' right ventricle.ESC heart failure · 2025Review
- Homeostasis control in health and disease by the unfolded protein response.Nature reviews. Molecular cell biology · 2025Review
- Endoplasmic reticulum stress in cardiomyopathies: from the unfolded protein response to therapeutic opportunities.Frontiers in cardiovascular medicine · 2025Review
- Global Proteomic Analysis Reveals Alterations in Differentially Expressed Proteins between Cardiopathic Lamin A/C Mutations.Journal of proteome research · 2024Article
- The Influence of a Genetic Variant inInternational journal of molecular sciences · 2024Article
- Targeting unfolded protein response reverts ER stress and ER CaJournal of translational medicine · 2023Article
- TRPML1-Induced Lysosomal CaInternational journal of molecular sciences · 2023Article
- C9orf72 dipeptides disrupt the nucleocytoplasmic transport machinery and cause TDP-43 mislocalisation to the cytoplasm.Scientific reports · 2022Article
- Role of Nuclear Lamin A/C in the Regulation of Nav1.5 Channel and Microtubules: Lesson From the Pathogenic Lamin A/C Variant Q517X.Frontiers in cell and developmental biology · 2022Article
- Pro-inflammatory cytokines as emerging molecular determinants in cardiolaminopathies.Journal of cellular and molecular medicine · 2021Article
- Functional study of a KCNH2 mutant: Novel insights on the pathogenesis of the LQT2 syndrome.Journal of cellular and molecular medicine · 2019Article
- DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient.Stem cell research & therapy · 2019Article
- Dandelion Root Extract Induces Intracellular CaInternational journal of molecular sciences · 2018Article
- Role of Lamin A/C Gene Mutations in the Signaling Defects Leading to Cardiomyopathies.Frontiers in physiology · 2018Review
- Sirolimus induces depletion of intracellular calcium stores and mitochondrial dysfunction in pancreatic beta cells.Scientific reports · 2017Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 isoform, which co-segregates with a severe form of cardiomyopathy with poor prognosis. However, no molecular mechanisms other than nonsense mediated decay of the messenger and possible haploinsufficiency were proposed to explain DCM. Aim of this study was to gain more insights into the disease-causing mechanisms induced by the expression of R321X at cellular level. We detected the expression of R321X by Western blotting from whole lysate of a mutation carrier heart biopsy. When expressed in HEK293 cells, GFP- (or mCherry)-tagged R321X mislocalized in the endoplasmic reticulum (ER) inducing the PERK-CHOP axis of the ER stress response. Of note, confocal microscopy showed phosphorylation of PERK in sections of the mutation carrier heart biopsy. ER mislocalization of mCherry-R321X also induced impaired ER Ca
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.