Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Role of Nuclear Lamin A/C in the Regulation of Nav1.5 Channel and Microtubules: Lesson From the Pathogenic Lamin A/C Variant Q517X

29 Jun 2022

Abstract excerpt

In this work, we studied an lmna nonsense mutation encoding for the C-terminally truncated Lamin A/C (LMNA) variant Q517X, which was described in patients affected by a severe arrhythmogenic cardiomyopathy with history of sudden death. We found that LMNA Q517X stably expressed in HL-1 cardiomyocytes abnormally aggregates at the nuclear envelope and within the nucleoplasm. Whole-cell patch clamp experiments showed...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiovascular Effects of Exercise
Share to Nuclear Structure and Function
Share to RNA Research and Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35846372
DOI: 10.3389/fcell.2022.918760

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Role of Nuclear Lamin A/C in the Regulation of Nav1.5 Channel and Microtubules: Lesson From the Pathogenic Lamin A/C Variant Q517XPMID 35846372Read ↗

The Pathogenic Mechanisms of and Novel Therapies for Lamin A/C-Related Dilated Cardiomyopathy Based on Patient-Specific Pluripotent Stem Cell Platforms and Animal ModelsSemantic proximity Read ↗

Lamin A/C Cardiomyopathy: Implications for Treatment.Semantic proximity Read ↗

Modulation of cytoskeleton in cardiomyopathy caused by mutations in LMNA gene.Semantic proximity Read ↗

The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.Semantic proximity Read ↗

Induced pluripotent stem cells technology for investigating familial dilated cardiomyopathy due to lamin A/C mutationsSemantic proximity Read ↗

Microtubule cytoskeleton regulates Connexin 43 localization and cardiac conduction in cardiomyopathy caused by mutation in A-type lamins gene.Semantic proximity Read ↗

Dysregulation of N-terminal acetylation causes cardiac arrhythmia and cardiomyopathySemantic proximity Read ↗

Current insights into LMNA cardiomyopathies: Existing models and missing LINCs.Semantic proximity Read ↗

Lamin A/C deficiency-mediated ROS elevation contributes to pathogenic phenotypes of dilated cardiomyopathy in iPSC model.Semantic proximity Read ↗

Dysregulation of N-terminal acetylation causes cardiac arrhythmia and cardiomyopathySemantic proximity Read ↗

Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.Semantic proximity Read ↗

Lamin A/C deficiency as a cause of familial dilated cardiomyopathySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.