Expression of wild-type and mutant human ornithine transcarbamylase genes in Chinese hamster ovary cells and lack of dominant negative effect of R141Q and R40H mutants

Pediatric Research

Volumn 48, Issue 6, 2000, Pages 842-846

  Augustin, Lance ^a   Mavinakere, Manohara ^b   Morizono, Hiroki ^b   Tuchman, Mendel ^b,c  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b CHILDREN S RESEARCH INSTITUTE   (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CATALYSIS; CHO CELL; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; GENETIC TRANSFECTION; HYPERAMMONEMIA; NONHUMAN; OVARY CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 0033666326     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-200012000-00023     Document Type: Article

References (14)

1. Targeting of pre-ornithine transcarbamylase to mitochondria: Definition of critical regions and residues in the leader peptide
2. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency
3. Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase
4. An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells
5. 1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine: Catalytic mechanism and correlation with inherited deficiency
6. Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult
7. The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients
8. Late onset ornithine transcarbamylase deficiency: Function of three purified recombinant mutant enzymes
9. Immunochemical analysis of carbamyl phosphate synthetase I and ornithine transcarbamylase deficient livers: Elevated N-acetylglutamate level in CRM negative carbamyl phosphate synthetase I deficiency
10. Patient selection may affect gene therapy success. Dominant negative effects observed for ornithine transcarbamylase in mouse and human hepatocytes
11. An efficient PCR mutagenesis strategy without gel purification step that is amenable to automation
12. Prolonged metabolic correction in adult ornithine transcarbamylase-deficient mice with adenoviral vectors
13. Molecular recognition by ornithine and aspartate transcarbamylases
14. Developing adenoviral-mediated in vivo gene therapy for ornithine transcrabamylase deficiency