Article

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy

2025-01-03

Abstract excerpt

The heart employs a specialized ribosome in its muscle cells to translate genetic information into proteins, a fundamental adaptation with an elusive physiological role 1–3 . Its significance is underscored by the discovery of neonatal patients suffering from often fatal heart failure caused by severe dilated cardiomyopathy when both copies of the gene RPL3L are mutated 4–9 . RPL3L is a muscle-specific paralog...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 3405c92e-c1cb-541e-afe0-c1be98a005a1
DOI: 10.1101/2025.01.02.630345

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathyDOI 10.1101/2025.01.02.630345Read

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy.Semantic proximity Read

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.Semantic proximity Read

Further Evidence of Autosomal Recessive Inheritance of RPL3L Pathogenic Variants with Rapidly Progressive Neonatal Dilated CardiomyopathySemantic proximity Read

Novel Compound Heterozygous Missense Variants in RPL3L Gene Associated With Neonatal Dilated Cardiomyopathy.Semantic proximity Read

Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature reviewSemantic proximity Read

Molecular etiology of defective nuclear and mitochondrial ribosome biogenesis: Clinical phenotypes and therapy.Semantic proximity Read

Probing the mechanisms underlying human diseases in making ribosomes.Semantic proximity Read

Rpl3l gene deletion in mice reduces heart weight over timeSemantic proximity Read

Diverse diseases from a ubiquitous process: the ribosomopathy paradox.Semantic proximity Read

Ribosomal proteins and human diseases: molecular mechanisms and targeted therapy.Semantic proximity Read

How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies.Semantic proximity Read

When ribosomes go bad: diseases of ribosome biogenesis.Semantic proximity Read