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

The Impact of Splicing Dysregulation on Neuromuscular Disorders and Current Neuromuscular Genetic Therapies

1 Jun 2025

Abstract excerpt

Eukaryotic genes contain non-coding segments known as introns, which interrupt coding sequences. Consequently, eukaryotic transcription produces precursor messenger RNA (pre-mRNA) that relies on precise splicing to remove highly diverse introns from the genome and to generate the mature mRNA essential for maintaining normal cellular activities. The extensive heterogeneity of neurons necessitates complex splicing...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis Research
Share to Muscle Physiology and Disorders
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40566997
DOI: 10.1111/jnc.70133

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Impact of Splicing Dysregulation on Neuromuscular Disorders and Current Neuromuscular Genetic TherapiesPMID 40566997Read ↗

Aberrant splicing in neurological diseases.Semantic proximity Read ↗

Splicing and neurodegeneration: Insights and mechanismsSemantic proximity Read ↗

Neurodegenerative diseases: a hotbed for splicing defects and the potential therapiesSemantic proximity Read ↗

Mechanisms of Neuronal Alternative Splicing and Strategies for Therapeutic InterventionsSemantic proximity Read ↗

The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches.Semantic proximity Read ↗

Alternative Splicing Role in New Therapies of Spinal Muscular AtrophySemantic proximity Read ↗

The pathobiology of splicing.Semantic proximity Read ↗

An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type ISemantic proximity Read ↗

Alternative Splicing in Genetic Diseases: Improved Diagnosis and Novel Treatment Options.Semantic proximity Read ↗

Biomedical impact of splicing mutations revealed through exome sequencing.Semantic proximity Read ↗

Alternative Splicing of Transcription Factors Genes in Muscle Physiology and PathologySemantic proximity Read ↗

Alternative Splicing and Isoforms: From Mechanisms to DiseasesSemantic proximity Read ↗

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