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

Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction.

Human gene therapy - 1 Sept 2010

Carrillo-Carrasco Nuria, Chandler Randy J, Chandrasekaran Suma, Venditti Charles P

Abstract excerpt

Methylmalonic acidemia is a severe metabolic disorder caused by a deficiency of the ubiquitously expressed mitochondrial enzyme, methylmalonyl-CoA mutase (MUT). Liver transplantation has been used to treat a small number of patients with variable success, and whether liver-directed gene therapy m...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Metabolism, Inborn Errors
Share to Dependovirus
Share to Gene Transfer Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Therapy

Share to Injections

Share to Methylmalonyl-CoA Mutase

Share to Organ Specificity

Share to Survival Analysis

Source

Open in PubMed Open full text

Identifiers

PMID: 20486773
DOI: 10.1089/hum.2010.008
PMCID: PMC2936498

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20486773-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction.PMID 20486773Read ↗

Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia.Semantic proximity Read ↗

Gene therapy in a murine model of methylmalonic acidemia using rAAV9-mediated gene delivery.Semantic proximity Read ↗

Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.Semantic proximity Read ↗

FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.Semantic proximity Read ↗

Mitochondrial dysfunction in mut methylmalonic acidemia.Semantic proximity Read ↗

Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA).Semantic proximity Read ↗

A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality.Semantic proximity Read ↗

Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemiaSemantic proximity Read ↗

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.Semantic proximity Read ↗

In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1.Semantic proximity Read ↗

Adeno‐associated virus gene repair corrects a mouse model of hereditary tyrosinemia in vivo†‡Semantic proximity Read ↗

Muscle-directed AAV gene therapy rescues the maple syrup urine disease phenotype in a mouse model.Semantic proximity Read ↗

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