Changes in the carboxyl terminus of the β subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: Expression and characterization of seven patient- derived mutant forms of PCC in Escherichia coli

Molecular Genetics and Metabolism

Volumn 71, Issue 4, 2000, Pages 623-632

  Chloupková, Maja ^a   Ravn, Kirstine ^b   Schwartz, Marianne ^b   Kraus, Jan P ^a  

^a Children's Hospital Colorado   (United States)

^b Rigshospitalet   (Denmark)

Author keywords

Mitochondria; Mutations; Propionic acidemia; Propionyl CoA carboxylase; Protein degradation

Indexed keywords

MUTANT PROTEIN; OLIGOMER; PROPIONYL COENZYME A CARBOXYLASE;

AMINO ACID SUBSTITUTION; ARTICLE; CARBOXY TERMINAL SEQUENCE; CARBOXYLATION; CATALYSIS; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME SUBUNIT; ESCHERICHIA COLI; EXON; GENE INSERTION; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; PROTEIN ASSEMBLY; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN STABILITY;

EID: 0034519536     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3097     Document Type: Article

References (43)

1. Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: Chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes
2. Assignment of the human gene propionyl coenzyme A carboxylase, α chain, (PCCA) to chromosome 13q32 by in situ hybridization
3. Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase
4. Human mitochondrial propionyl-CoA carboxylase: Localization of the N-terminus of the pro- and mature alpha chains in the deduced primary sequence of a full-length cDNA
5. The molecular defect in propionic acidemia: Exon skipping caused by an 8-bp deletion from an intron in the PCCB allele
6. Cloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblasts
7. Biosynthesis and mitochondrial processing of the β subunit of propionyl CoA carboxylase from rat liver
8. Coding sequence of the precursor of the beta subunit of rat propionyl-CoA carboxylase
9. Sequence analysis, biogenesis, and mitochondrial import of the alpha-subunit of rat liver propionyl-CoA carboxylase
10. Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts
11. Molecular basis for genetic complementation in propionyl CoA carboxylase deficiency
12. Kinetic analysis of genetic complementation in heterokaryons of propionyl CoA carboxylase-deficient human fibroblasts
13. Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
14. Chaperonin-mediated assembly of wild-type and mutant subunits of human propionyl-CoA carboxylase expressed in Escherichia coli
15. High incidence of propionic acidemia in Greenland due to a prevalent mutation, 1540insCCC, in the gene for the β subunit of propionyl CoA carboxylase
16. Propionic acidaemia: Sequence analysis of mutant mRNAs from Japanese β subunit-deficient patients
17. Mutations participating in interallelic complementation in propionic acidemia
18. Mutation analysis in propionic acidemia
19. Human propionyl-CoA carboxylase beta subunit gene: Exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients
20. Une forme a revelation tardive de I'acidemie propionique
21. Propionic acidaemia presenting with pancytopaenia in infancy
22. Potential relationship between genotype and clinical outcome in propionic acidaemia patients
23. Different structures in the amino-terminal domain of the ornithine transcarbamylase leader peptide are involved in mitochondrial import and carboxyl-terminal cleavage
24. GroE heat-shock proteins promote assembly of foreign prokaryotic ribulose bisphosphate carboxylase oligomers in Escherichia coli
25. Isolation and characterization of propionyl-CoA carboxylase from normal human liver. Evidence for a protomeric tetramer of nonidentical subunits
26. Protein measurement with the Folin phenol reagent
27. Cleavage of structural proteins during the assembly of the head of bacteriophage T4
28. Identification, developmental regulation, and response to heat shock of two antigenically related forms of a major nuclear envelope protein in Drosophila embryos: Application of an improved method for affinity purification of antibodies using polypeptides immobilized on nitrocellulose blots
29. The ClpXP and ClpAP proteases degrade proteins with carboxy-terminal peptide tails added by the SsrA·tagging system
30. Degradation of carboxy-terminal-tagged cytoplasmic proteins by the Escherichia coli protease Hf1B (FtsH)
31. Carboxy-terminal determinants of intracellular protein degradation
32. Recombinant protein expression in Escherichia coli
33. Comparison of folding rates of homologous prokaryotic and eukaryotic proteins
34. Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: An approach to the determination of the beta-propionyl-CoA carboxylase functional domains
35. Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients
36. Protein biogenesis: Chaperones for nascent polypeptides
37. Biogenesis of mitochondria
38. Mitochondrial evolution
39. Protein folding in vivo: The importance of molecular chaperones
40. A human mitochondrial ATP-dependent protease that is highly homologous to bacterial Lon protease
41. Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene
42. Genetic heterogeneity of propionic acidemia: Analysis of 15 Japanese patients