ArticleMolecular genetics and metabolism2012
Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA).
Article in Molecular genetics and metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.Journal of inherited metabolic disease · 2021Guideline
- Article
- Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia.Molecular therapy. Methods & clinical development · 2023Article
- Systemic gene therapy for methylmalonic acidemia using the novel adeno-associated viral vector 44.9.Molecular therapy. Methods & clinical development · 2022Article
- Novel AAV-mediated genome editing therapy improves health and survival in a mouse model of methylmalonic acidemia.PloS one · 2022Article
- Article
- Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia.Cellular and molecular life sciences : CMLS · 2021Review
- Promoterless, Nuclease-Free Genome Editing Confers a Growth Advantage for Corrected Hepatocytes in Mice With Methylmalonic Acidemia.Hepatology (Baltimore, Md.) · 2021Article
- Review
- Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.Molecular genetics and metabolism · 2020Article
- Gene Therapy for Methylmalonic Acidemia: Past, Present, and Future.Human gene therapy · 2019Review
- Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia.Cell reports · 2017Article
- Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.Human gene therapy · 2016Article
- Vector design influences hepatic genotoxicity after adeno-associated virus gene therapy.The Journal of clinical investigation · 2015Article
- Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1.Gene therapy · 2013Article
- Review
- Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.Journal of inherited metabolic disease · 2013Review
- Growth advantage of corrected hepatocytes in a juvenile model of methylmalonic acidemia following liver directed adeno-associated viral mediated nuclease-free genome editing.Molecular genetics and metabolismArticle
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
We demonstrate that human methylmalonyl-CoA mutase (MUT), delivered using an AAV serotype 8 vector, rescues the lethal phenotype displayed by mice with MMA and provides long-term phenotypic correction. In addition to defining a lower limit of effective dosing, our studies establish that neither a species barrier to mitochondrial processing nor an apparent immune response to MUT limits the murine model as an experimental platform to test the efficacy of human gene therapy vectors for MMA.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.