ArticleEMBO molecular medicine2023
Liver-directed gene therapy for ornithine aminotransferase deficiency.
Article in EMBO molecular medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed, 17 citations in OpenAlex.
- Early proteomic and metabolic signatures of liver and eye in OAT-deficient mice.Experimental eye research · 2026Article
- Early life exposure to N-nitrosamine drives genotoxicity, mutagenesis, and tumorigenesis in DNA repair-deficient mice.Nature communications · 2026Article
- Gyrate atrophy of the choroid and retina: a tertiary center experience.Orphanet journal of rare diseases · 2026Article
- Gyrate Atrophy of the Choroid and Retina Diagnosed in Adulthood With a HomozygousCase reports in ophthalmological medicine · 2026Article
- Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?Acta ophthalmologica · 2025Review
- Beyond Ornithine Metabolism in Gyrate Atrophy: Tissue-Specific Proteomic Insights into Neonatal and Adult OAT Deficiency.bioRxiv : the preprint server for biology · 2025Article
- Combined intraocular and intravenous gene delivery for therapy of gyrate atrophy of the choroid and retina.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Combinatorial gene therapy for gyrate atrophy of the choroid and retina.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Intraretinal variation in disease severity in the OatExperimental eye research · 2025Article
- Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.Journal of inherited metabolic disease · 2025Article
- Proteo-metabolomics and patient tumor slice experiments point to amino acid centrality for rewired mitochondria in fibrolamellar carcinoma.Cell reports. Medicine · 2024Article
- Biochemical Studies on Human Ornithine Aminotransferase Support a Cell-Based Enzyme Replacement Therapy in the Gyrate Atrophy of the Choroid and Retina.International journal of molecular sciences · 2024Article
- Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.Journal of inherited metabolic disease · 2024Article
- Vision on gyrate atrophy: why treat the liver?EMBO molecular medicine · 2024Article
- Vision on gyrate atrophy: why treat the eye?EMBO molecular medicine · 2024Article
- Insights into the liver-eyes connections, from epidemiological, mechanical studies to clinical translation.Journal of translational medicine · 2023Review
- Targeting the liver to treat the eye.EMBO molecular medicine · 2023Article
Corrections and comments
- Commented on by
Authors and funding
15 authors at 5 institutions in 1 country.
Funding
Abstract
Gyrate atrophy of choroid and retina (GACR) is a chorioretinal degeneration caused by pathogenic variants in the gene encoding ornithine aminotransferase (OAT), an enzyme mainly expressed in liver. Affected patients have increased ornithine concentrations in blood and other body fluids and develop progressive constriction of vision fields leading to blindness. Current therapies are unsatisfactory and better treatments are highly needed. In two mouse models of OAT deficiency that recapitulates biochemical and retinal changes of GACR, we investigated the efficacy of an intravenously injected serotype 8 adeno-associated (AAV8) vector expressing OAT under the control of a hepatocyte-specific promoter. Following injections, OAT-deficient mice showed reductions of ornithine concentrations in blood and eye cups compared with control mice injected with a vector expressing green fluorescent protein. AAV-injected mice showed improved electroretinogram response and partial restoration of retinal structure up to one-year post-injection. In summary, hepatic OAT expression by AAV8 vector was effective at correction of hyperornithinemia and improved function and structure of the retina. In conclusion, this study provides proof-of-concept of efficacy of liver-directed AAV-mediated gene therapy of GACR.
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.