ArticleMolecular genetics and metabolism2013
The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia.
Article in Molecular genetics and metabolism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 25 citations in OpenAlex.
- Novel murine model provides insights into early-onset of kidney disease in glycogen storage disease type Ib.Molecular genetics and metabolism · 2025Article
- Article
- Liver-Directed Gene Therapy Mitigates Early Nephropathy in Murine Glycogen Storage Disease Type Ia.Journal of inherited metabolic disease · 2025Article
- Inhibition of Wnt/β-catenin signaling reduces renal fibrosis in murine glycogen storage disease type Ia.Biochimica et biophysica acta. Molecular basis of disease · 2024Article
- Glycogen storage disease type I: Genetic etiology, clinical manifestations, and conventional and gene therapies.Pediatric discovery · 2023Article
- Gene therapy and genome editing for type I glycogen storage diseases.Frontiers in molecular medicine · 2023Review
- Correction of metabolic abnormalities in a mouse model of glycogen storage disease type Ia by CRISPR/Cas9-based gene editing.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- Gene therapy for glycogen storage diseases.Human molecular genetics · 2019Review
- An evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type Ia.Journal of inherited metabolic disease · 2019Article
- Gene therapy prevents hepatic tumor initiation in murine glycogen storage disease type Ia at the tumor-developing stage.Journal of inherited metabolic disease · 2019Article
- Response letter.Journal of inherited metabolic disease · 2018Article
- Molecular biology and gene therapy for glycogen storage disease type Ib.Journal of inherited metabolic disease · 2018Review
- Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia.Journal of inherited metabolic disease · 2018Article
- Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy.Journal of inherited metabolic disease · 2018Article
- Liver-directed gene therapy for murine glycogen storage disease type Ib.Human molecular genetics · 2017Article
- Recent development and gene therapy for glycogen storage disease type Ia.Liver research (Beijing, China) · 2017Article
- Downregulation of pathways implicated in liver inflammation and tumorigenesis of glycogen storage disease type Ia mice receiving gene therapy.Human molecular genetics · 2017Article
- Repair of liver mediated by adult mouse liver neuro-glia antigen 2-positive progenitor cell transplantation in a mouse model of cirrhosis.Scientific reports · 2016Article
- The Genetic Architecture of Murine Glutathione Transferases.PloS one · 2016Article
- Mice expressing reduced levels of hepatic glucose-6-phosphatase-α activity do not develop age-related insulin resistance or obesity.Human molecular genetics · 2015Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Glycogen storage disease type-Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-α (G6Pase-α or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, growth retardation, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia. Two efficacious recombinant adeno-associated virus pseudotype 2/8 (rAAV8) vectors expressing human G6Pase-α have been independently developed. One is a single-stranded vector containing a 2864-bp of the G6PC promoter/enhancer (rAAV8-GPE) and the other is a double-stranded vector containing a shorter 382-bp minimal G6PC promoter/enhancer (rAAV8-miGPE). To identify the best construct, a direct comparison of the rAAV8-GPE and the rAAV8-miGPE vectors was initiated to determine the best vector to take forward into clinical trials. We show that the rAAV8-GPE vector directed significantly higher levels of hepatic G6Pase-α expression, achieved greater reduction in hepatic glycogen accumulation, and led to a better toleration of fasting in GSD-Ia mice than the rAAV8-miGPE vector. Our results indicated that additional control elements in the rAAV8-GPE vector outweigh the gains from the double-stranded rAAV8-miGPE transduction efficiency, and that the rAAV8-GPE vector is the current choice for clinical translation in human GSD-Ia.
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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.