Synergism of dual AAV gene therapy and rapamycin rescues GSDIII phenotype in muscle and liver.

doi:10.1172/jci.insight.172614

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

Community

Back to search

Article

Synergism of dual AAV gene therapy and rapamycin rescues GSDIII phenotype in muscle and liver.

JCI insight - 16 May 2024

Jauze Louisa, Vie Mallaury, Miagoux Quentin, Rossiaud Lucille, Vidal Patrice, Montalvo-Romeral Valle, Saliba Hanadi, Jarrige Margot, Polveche Helene, Nozi Justine, Le Brun Pierre-Romain, Bocchialini Luca, Francois Amandine, Cosette Jérémie, Rouillon Jérémy, Collaud Fanny, Bordier Fanny, Bertil-Froidevaux Emilie, Georger Christophe, van Wittenberghe Laetitia, Miranda Adeline, Daniele Nathalie F, Gross David-Alexandre, Hoch Lucile, Nissan Xavier, Ronzitti Giuseppe

Abstract excerpt

Glycogen storage disease type III (GSDIII) is a rare metabolic disorder due to glycogen debranching enzyme (GDE) deficiency. Reduced GDE activity leads to pathological glycogen accumulation responsible for impaired hepatic metabolism and muscle weakness. To date, there is no curative treatment for GSDIII. We previously reported that 2 distinct dual AAV vectors encoding for GDE were needed to correct liver and...

Read the complete abstract on PubMed

Topics

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

Share to Dependovirus

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Disease Models, Animal

Share to Genetic Therapy

Share to Genetic Vectors

Share to Glycogen Debranching Enzyme System

Share to Liver

Share to Muscle, Skeletal

Share to Sirolimus

Source

Open in PubMed Open full text

Identifiers

PMID: 38753465
DOI: 10.1172/jci.insight.172614
PMCID: PMC11382881

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Synergism of dual AAV gene therapy and rapamycin rescues GSDIII phenotype in muscle and liver.PMID 38753465Read ↗

Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression.Semantic proximity Read ↗

Gene therapy for glycogen storage diseasesSemantic proximity Read ↗

Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model.Semantic proximity Read ↗

A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching EnzymeSemantic proximity Read ↗

Gene therapy and genome editing for type I glycogen storage diseasesSemantic proximity Read ↗

Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-α-glucosidaseSemantic proximity Read ↗

CRISPR/Cas9 ‐based double‐strand oligonucleotide insertion strategy corrects metabolic abnormalities in murine glycogen storage disease type‐IaSemantic proximity Read ↗

Molecular biology and gene therapy for glycogen storage disease type Ib.Semantic proximity Read ↗

A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn miceSemantic proximity Read ↗

A myotropic AAV vector combined with skeletal muscle cis-regulatory elements improve glycogen clearance in mouse models of Pompe diseaseSemantic proximity Read ↗

Low-Dose Liver-Targeted Gene Therapy for Pompe Disease Enhances Therapeutic Efficacy of ERT via Immune Tolerance InductionSemantic proximity Read ↗

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