ArticleAmerican journal of human genetics2008
Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 47 citations in OpenAlex.
- Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies.British journal of haematology · 2026Review
- Article
- Congenital erythropoietic porphyria five years observation with standard treatment: a case report.Oxford medical case reports · 2024Article
- Acitretin mitigates uroporphyrin-induced bone defects in congenital erythropoietic porphyria models.Scientific reports · 2021Article
- Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells.Stem cell reports · 2020Article
- Congenital erythropoietic porphyria: Recent advances.Molecular genetics and metabolism · 2019Review
- Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.Molecular genetics and metabolism · 2019Review
- CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations.Nature communications · 2019Article
- Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model.Haematologica · 2017Article
- Emerging cellular and gene therapies for congenital anemias.American journal of medical genetics. Part C, Seminars in medical genetics · 2016Review
- Molecular alterations and tumor suppressive function of the DUSP22 (Dual Specificity Phosphatase 22) gene in peripheral T-cell lymphoma subtypes.Oncotarget · 2016Article
- [Congenital erythropoietic porphyria : An update].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2016Review
- Anemia: progress in molecular mechanisms and therapies.Nature medicine · 2015Review
- Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors.American journal of human genetics · 2012Article
- Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met).Indian journal of human genetics · 2011Article
- Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.Molecular medicine (Cambridge, Mass.) · 2011Article
- Porphyrias at a glance: diagnosis and treatment.Internal and emergency medicine · 2010Review
- Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.Molecular medicine (Cambridge, Mass.)Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Achieving long-term expression of a therapeutic gene in a given hematopoietic lineage remains an important goal of gene therapy. Congenital erythropoietic porphyria (CEP) is a severe autosomal-recessive disorder characterized by a deficiency in uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosynthetic pathway. We used a recently obtained murine model to check the feasibility of gene therapy in this disease. Lentivirus-mediated transfer of the human UROS cDNA into hematopoietic stem cells (HSCs) from Uros(mut248) mice resulted in a complete and long-term enzymatic, metabolic, and phenotypic correction of the disease, favored by a survival advantage of corrected red blood cells. These results demonstrate that the cure of this mouse model of CEP at a moderate transduction level supports the proof of concept of a gene therapy in this disease by transplantation of genetically modified hematopoietic stem cells.
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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.