ArticleHuman gene therapy2009
Short-term rescue of neonatal lethality in a mouse model of propionic acidemia by gene therapy.
Article in Human gene therapy, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
22 citing papers in PubMed, 34 citations in OpenAlex.
- Precision metabolic therapy for propionic acidemia.Biochemical pharmacology · 2026Review
- Comparison of Systemic and Mucosal Synchronous Immunization with Replicating Single-cycle Adenoviruses and SOSIP Protein HIV-1 Vaccines.Research square · 2026Article
- From N-of-1 to versatility in propionic acidemia: Antisense oligonucleotide-mediated skipping of a constitutiveMolecular therapy. Nucleic acids · 2026Article
- Metabolic flux analysis in hiPSC-CMs reveals insights into cardiac dysfunction in propionic acidemia.Cellular and molecular life sciences : CMLS · 2025Article
- Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia.Molecular therapy. Methods & clinical development · 2023Article
- Pathophysiological mechanisms of complications associated with propionic acidemia.Pharmacology & therapeutics · 2023Review
- Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia.Journal of inherited metabolic disease · 2023Article
- Pantothenate kinase activation relieves coenzyme A sequestration and improves mitochondrial function in mice with propionic acidemia.Science translational medicine · 2021Article
- Retargeting adenoviruses for therapeutic applications and vaccines.FEBS letters · 2020Review
- Neurological manifestations of organic acidurias.Nature reviews. Neurology · 2019Review
- Propionyl-CoA carboxylase - A review.Molecular genetics and metabolism · 2017Review
- Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.European journal of human genetics : EJHG · 2017Article
- Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia.Scientific reports · 2017Article
- Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors.Human gene therapy · 2015Article
- Effects of adeno-associated virus serotype and tissue-specific expression on circulating biomarkers of propionic acidemia.Human gene therapy · 2014Article
- PEGylated helper-dependent adenoviral vector expressing human Apo A-I for gene therapy in LDLR-deficient mice.Gene therapy · 2013Article
- Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing.Molecular therapy : the journal of the American Society of Gene Therapy · 2013Article
- Structure and function of biotin-dependent carboxylases.Cellular and molecular life sciences : CMLS · 2013Review
- Helper-dependent adenoviral vectors for liver-directed gene therapy.Human molecular genetics · 2011Review
- Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia.Human gene therapy · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Propionic acidemia (PA) is a metabolic disorder that causes mental retardation and that can be fatal if untreated. PA is inherited in an autosomal recessive fashion involving mutations in PCCA or PCCB encoding the alpha and beta subunits of propionyl-CoA carboxylase (PCC). Current treatment is based on dietary restriction of substrate amino acids, which attenuates symptoms. However, patients still experience episodes of hyperammonemia that can cause progressive neurologic damage. In this paper, we have tested gene therapy approaches to PA in a stringent mouse model of PCCA deficiency, in which homozygous knockout mice are born but die within 36 hr. In this work, we have delivered first-generation and helper-dependent adenovirus serotype 5 (Ad5) vectors expressing the human PCCA cDNA by intraperitoneal injection into newborn mice. Unmodified Ad5 vectors mediated extensive transduction of the peritoneum with weak liver transduction as determined by luciferase imaging and dsRed expression. In contrast, modification of Ad5 with polyethylene glycol detargeted the virus from the peritoneum and retargeted it for transduction in the liver. When vectors expressing PCCA were injected, significant increases in life span were observed for both the unmodified and polyethylene glycol (PEG)-modified Ad5 vectors. However, this rescue was transient. Similarly, adeno-associated virus serotype 8-mediated transduction also produced only transient rescue. These data show first proof of principle for gene therapy of PA and demonstrate the potential utility of PEG to modify viral tropism in an actual gene therapy application.
Indexed as
Identifiers
What OpenQuestion holds
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.