Phenotypic correction of ornithine transcarbamylase deficiency using low dose helper-dependent adenoviral vectors
نویسندگان
چکیده
منابع مشابه
Long-term correction of ornithine transcarbamylase deficiency by WPRE-mediated overexpression using a helper-dependent adenovirus.
The urea cycle disorders (UCDs) are important models for developing gene replacement therapy for liver diseases. Long-term correction of the most common UCD, ornithine transcarbamylase (OTC) deficiency, has yet to be achieved in clinical or preclinical settings. The single human clinical trial using early-generation adenovirus (Ad) failed to show any biochemical correction. In adult OTC-deficie...
متن کاملOrnithine Transcarbamylase Deficiency
Accumulation of ammonia in body tissues most commonly occurs in hepatic failure. However, it may also result from a specific deficiency of an enzyme of the urea cycle (Fig., 1). Severe hyperammonaemia has been reported with deficiencies of carbamyl phosphate synthetase (Freeman et al., 1964) and ornithine transcarbamylase (Russell et al., 1962; Levin and Russell, 1967). Some increase in blood a...
متن کاملAntepartum Ornithine Transcarbamylase Deficiency
Ornithine transcarbamylase deficiency (OTCD) is the most common type urea cycle enzyme deficiencies. This syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes the conversion of ornithine and carbamoyl phosphate to citrullin. Our case was a 28-year-old female diagnosed with OTCD following neurocognitive deficit during her first pregnancy. Alt...
متن کامل[Ornithine transcarbamylase deficiency].
Accumulation of ammonia in body tissues most commonly occurs in hepatic failure. However, it may also result from a specific deficiency of an enzyme of the urea cycle (Fig., 1). Severe hyperammonaemia has been reported with deficiencies of carbamyl phosphate synthetase (Freeman et al., 1964) and ornithine transcarbamylase (Russell et al., 1962; Levin and Russell, 1967). Some increase in blood a...
متن کاملEctopic correction of ornithine transcarbamylase deficiency in sparse fur mice.
The sparse fur (spf) mutant mouse is a model for human X-linked ornithine transcarbamylase (OTC) deficiency. Human OTC cDNA placed under transcriptional control of the mouse OTC promoter was microinjected into fertilized oocytes of spf mice. Two founder lines of transgenic mice were phenotypically and biochemically corrected for OTC deficiency by the expression of the human gene at high levels ...
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ژورنال
عنوان ژورنال: The Journal of Gene Medicine
سال: 2008
ISSN: 1099-498X,1521-2254
DOI: 10.1002/jgm.1218