Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

BRD9 Degraders Unleash GBAF Chromatin Remodeling Activity in Synovial Sarcoma.

Cancer research·2026
Same author

Metabolic signatures in sciatic nerve of PMP22 transgenic rats provide insights into the pathogenesis of charcot-marie-tooth disease type 1 A.

Scientific reports·2026
Same author

Skeletal Muscle Biomarkers of Amyotrophic Lateral Sclerosis: A Large-Scale, Multi-Cohort Proteomic Study.

Annals of neurology·2025
Same author

Isolated oral CD30<sup>+</sup>/CD4<sup>+</sup> CAR<sup>+</sup> T cell lymphoma in long-term remission after radiotherapy.

Molecular therapy : the journal of the American Society of Gene Therapy·2025
Same author

SACF and GILA assays on AML12 cells show limited predictive value for mouse liver genotoxicity.

Toxicology and applied pharmacology·2025
Same author

A cereblon-based glue degrader of NEK7 regulates NLRP3 inflammasome in a context-dependent manner.

Cell chemical biology·2025
Same journal

A temporal phospho-acetylome atlas of human myogenesis identifies coordinated post-translational regulation.

Molecular & cellular proteomics : MCP·2026
Same journal

Temporal proteomic characterization of SARS-CoV-2 infected mouse lungs.

Molecular & cellular proteomics : MCP·2026
Same journal

Platelet proteome links metabolism to reactivity in Essential Thrombocythemia.

Molecular & cellular proteomics : MCP·2026
Same journal

Genetic rescue of disrupted synaptic protein interaction network dynamics following SYNGAP1 reactivation.

Molecular & cellular proteomics : MCP·2026
Same journal

ASAP-ID: Proximity labelling with small tags.

Molecular & cellular proteomics : MCP·2026
Same journal

Proteome profiling reveals NQO2 activity contributing to proteasome inhibitor resistance in multiple myeloma cell lines.

Molecular & cellular proteomics : MCP·2026
See all related articles

Related Experiment Video

Updated: Jul 10, 2025

Dissection of Drosophila melanogaster Flight Muscles for Omics Approaches
08:33

Dissection of Drosophila melanogaster Flight Muscles for Omics Approaches

Published on: October 17, 2019

12.0K

Integrative Proteogenomics for Differential Expression and Splicing Variation in a DM1 Mouse Model.

Elizaveta M Solovyeva1, Stephan Utzinger2, Alexandra Vissières3

  • 1Research Informatics, Biomedical Research at Novartis, Basel, Switzerland; V.L. Talrose Institute for Energy Problems of Chemical Physics, N.N. Semenov Federal Research Center for Chemical Physics, Russian Academy of Sciences, Moscow, Russia.

Molecular & Cellular Proteomics : MCP
|November 22, 2023
PubMed
Summary
This summary is machine-generated.

Dysregulated mRNA splicing contributes to diseases like myotonic dystrophy type 1 (DM1). This study presents a scalable proteogenomic strategy to comprehensively analyze splicing changes at both mRNA and protein levels, identifying new disease-related targets.

Keywords:
alternative splicingmyotonic dystrophy type 1 (DM1)proteogenomics

More Related Videos

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

5.6K
Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay
11:22

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay

Published on: August 26, 2018

8.9K

Related Experiment Videos

Last Updated: Jul 10, 2025

Dissection of Drosophila melanogaster Flight Muscles for Omics Approaches
08:33

Dissection of Drosophila melanogaster Flight Muscles for Omics Approaches

Published on: October 17, 2019

12.0K
Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

5.6K
Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay
11:22

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay

Published on: August 26, 2018

8.9K

Area of Science:

  • Molecular Biology
  • Genomics
  • Proteomics

Background:

  • Dysregulated mRNA splicing is implicated in numerous diseases, including cancer, neurodegenerative disorders, and muscular dystrophies like myotonic dystrophy type 1 (DM1).
  • Comprehensive assessment of splicing alterations at both transcriptomic and proteomic levels has been methodologically challenging, often limiting studies to a few genes.

Purpose of the Study:

  • To perform a large-scale, coordinated transcriptomic and proteomic analysis in a myotonic dystrophy type 1 (DM1) mouse model (HSALR) compared to wild-type controls.
  • To develop and validate a robust and scalable integrative proteogenomic strategy for studying splicing-based disorders.

Main Methods:

  • Utilized an integrative proteogenomics approach, assessing both gene and splicing levels for mRNAs and proteins.
  • Conducted comparative analysis of large-scale mRNA and protein expression data between DM1 model and wild-type mice.
  • Enabled design and targeting of splicing-specific peptides based on findings.

Main Results:

  • Recapitulated known aberrant mRNA splicing events in DM1 and identified novel instances.
  • Confirmed translation of aberrantly spliced disease-related genes (e.g., Atp2a1, Bin1, Ryr1) and discovered new ones (Flnc, Ywhae).
  • Demonstrated quantitative agreement in differentially expressed genes and splicing patterns between disease and wild-type states at both mRNA and protein levels.

Conclusions:

  • The proposed integrative proteogenomic strategy offers a blueprint for advancing the understanding of splicing-based disorders.
  • Splicing-based biomarker candidates are identified as accessible options, verifiable at both mRNA and protein levels.
  • This approach facilitates a comprehensive understanding of disease pathogenesis driven by splicing dysregulation.