Cell and Gene Therapy for Carbamoyl Phosphate Synthetase 1 Deficiency
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چکیده
Carbamoyl phosphate synthetase 1 (CPS1) is the first and rate-limiting enzyme in the urea cycle. CPS1 deficiency is a devastating condition, which is clinically characterized by periodic episodes of life-threatening hyperammonemia. Currently, there is no cure for CPS1 deficiency except for liver transplantation, which is limited by a severe shortage of donors and significant risk of mortality and morbidity. Based on the progress to date, cell-based therapies—including hepatocyte or stem cell transplantation—and new approaches for gene therapy have become the promising curative treatments for CPS1 deficiency. This review outlines the current progress and challenges of cell and gene therapies for CPS1 deficiency.
منابع مشابه
The gene coding for carbamoyl-phosphate synthetase I was formed by fusion of an ancestral glutaminase gene and a synthetase gene.
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The urea cycle disease carbamoyl-phosphate synthetase deficiency (CPS1D) has been associated with many mutations in the CPS1 gene [Häberle et al., 2011. Hum Mutat 32:579-589]. The disease-causing potential of most of these mutations is unclear. To test the mutations effects, we have developed a system for recombinant expression, mutagenesis, and purification of human carbamoyl-phosphate synthet...
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