ArticleHuman gene therapy2008
Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia.
Article in Human gene therapy, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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.
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Who cites it
24 citing papers in PubMed, 38 citations in OpenAlex.
- Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.Proceedings of the National Academy of Sciences of the United States of America · 2013Trial
- Animal models of methylmalonic acidemia: insights and challenges.Orphanet journal of rare diseases · 2025Review
- 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
- Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia.Cellular and molecular life sciences : CMLS · 2021Review
- ImmTOR nanoparticles enhance AAV transgene expression after initial and repeat dosing in a mouse model of methylmalonic acidemia.Molecular therapy. Methods & clinical development · 2021Article
- Efficacy of AAV9-mediated SGPL1 gene transfer in a mouse model of S1P lyase insufficiency syndrome.JCI insight · 2021Article
- Gene Therapy for Methylmalonic Acidemia: Past, Present, and Future.Human gene therapy · 2019Review
- Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging.Science advances · 2019Article
- FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.JCI insight · 2018Article
- Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia.Cell reports · 2017Article
- Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.The Journal of biological chemistry · 2016Article
- Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.Human gene therapy · 2016Article
- Evidence for contribution of CD4+ CD25+ regulatory T cells in maintaining immune tolerance to human factor IX following perinatal adenovirus vector delivery.Journal of immunology research · 2015Article
- Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector.Human gene therapy · 2014Article
- Review
- Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA).Molecular genetics and metabolism · 2012Article
- Article
- Perinatal gene transfer to the liver.Current pharmaceutical design · 2011Review
- 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 · 2010Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Methylmalonic acidemia (MMA), an autosomal recessive metabolic disorder, is most often caused by mutations in methylmalonyl-CoA mutase (MUT). Severely affected patients typically present with metabolic crisis in the early neonatal period and can perish despite intervention. Survivors follow an unstable course and can require elective liver transplantation to prevent life-threatening metabolic decompensation. Therapeutic alternatives to liver transplantation such as hepatocyte-directed gene and cell therapies lack experimental validation. We have used a murine model of mut0 MMA to assess the efficacy of virus-mediated gene therapy to rescue the neonatal lethality seen in the Mut(-/-) mice. Affected pups and control littermates received either intramuscular or intrahepatic injections of adenovirus carrying the Mut gene expressed under the control of the cytomegalovirus promoter. All of the Mut(-/-) pups injected via the intramuscular route perished within the first 48 hr of birth. However, more than 50% of the Mut(-/-) pups that received intrahepatic injections survived beyond weaning (day 15). The treated mutants expressed methylmalonyl-CoA mutase mRNA and protein, and displayed decreased metabolite levels compared with uninjected Mut(-/-) mice. The results demonstrate that adenovirus-mediated, hepatic methylmalonyl-CoA mutase expression can rescue Mut(-/-) pups from neonatal mortality and provide proof-of-principle evidence for the efficacy of liver-directed gene delivery in methylmalonic acidemia.
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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.