The clinically variable R40H mutant ornithine carbamoyltransferase shows cytosolic degradation of the precursor protein in CHO cells

Journal of Inherited Metabolic Disease

Volumn 24, Issue 6, 2001, Pages 614-622

  Mavinakere, M ^a   Morizono, H ^a   Shi, D ^a   Allewell, N M ^b   Tuchman, M ^a  

^a GEORGE WASHINGTON UNIVERSITY   (United States)

^b UNIVERSITY OF MARYLAND   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; MUTANT PROTEIN; ORNITHINE CARBAMOYLTRANSFERASE; PROTEIN PRECURSOR; SULFUR 35;

ADULT; ANIMAL CELL; ARTICLE; CHO CELL; CONTROLLED STUDY; CYTOSOL; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME ACTIVITY; ENZYME DEFICIENCY; FAMILY; GENETIC HETEROGENEITY; HUMAN; HYPERAMMONEMIA; ISOTOPE LABELING; LIVER; MATURITY; MITOCHONDRION; MUTATION; NONHUMAN; PHENOTYPE; PROTEIN DEGRADATION; PROTEIN PROCESSING; PROTEIN TRANSPORT; RAT; RECURRENT DISEASE; SYMPTOMATOLOGY; TURNOVER TIME; UREA CYCLE;

ADULT; ANIMALS; CHO CELLS; CRICETINAE; CYTOSOL; GENETIC VECTORS; HUMANS; METHIONINE; MITOCHONDRIA, LIVER; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; PRECIPITIN TESTS; PROTEIN BIOSYNTHESIS; PROTEIN PRECURSORS; RATS; TRANSCRIPTION, GENETIC;

EID: 0035194406     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1012726207870     Document Type: Article

References (13)

1. Expression of wild type and mutant human ornithine transcarbamylase genes in Chines hamster ovary cells and lack of dominant negative effect of R141Q and R40H mutants
2. Metabolic labeling of proteins
3. Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: A hypothesis on the molecular mechanism of the OTC deficiency
4. Substrate-induced conformational change in a trimeric ornithine transcarbamoylase
5. Targeting of pre-ornithine transcarbamylase to mitochondria: Definition of critical regions and residues in the leader peptide
6. Mitochondrial intermediate peptidase
7. 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
8. Late onset ornithine transcarbamylase deficiency: Function of three purified recombinant mutant enzymes
9. The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients
10. 1.85-Å resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine: Catalytic mechanism and correlation with inherited deficiency
11. Immunoprecipitation
12. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency
13. Prolonged metabolic correction in adult ornithine transcarbamylase-deficient mice with adenoviral vectors