Therapeutic Effect and Metabolic Significance of Transgene on Ornithine Transcarbamylase-deficient Mice.
نویسندگان
چکیده
منابع مشابه
Increase of ornithine transcarbamylase protein in sparse-fur mice with ornithine transcarbamylase deficiency.
Ornithine transcarbamylase (OTCase, EC 2.1.3.3) a mitochondrial enzyme of the urea cycle catalyses the formation of citrulline from ornithine and carbamoyl phosphate. It has been purified from liver in 3 mammalian species: bovine [ 11, human [2] and rat [3,4] but not from mouse. We decided to purify mouse OTCase because the mouse is the only mammalian species in which two strains with an OTCase...
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: Proceedings of The Japanese Society of Animal Models for Human Diseases
سال: 1994
ISSN: 0918-8991,1884-4197
DOI: 10.1538/expanim1992.10.6