Mutations affecting the β-β homomeric interaction in propionic acidaemia: An approach to the determination of the β-propionyl-CoA carboxylase functional domains

Journal of Inherited Metabolic Disease

Volumn 23, Issue 4, 2000, Pages 300-304

  Muro, S ^b   Perez B ^b   Rodriguez Pombo P ^b   Desviat, L R ^b   Perez Cerda C ^b   Ugarte, M ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BETA PROPIONYL COA CARBOXYLASE; CARBOXYLASE; PROTEIN SUBUNIT; UNCLASSIFIED DRUG;

ANIMAL CELL; CONFERENCE PAPER; ENZYME ACTIVE SITE; GENE MUTATION; NONHUMAN; OLIGOMERIZATION; PROPIONIC ACIDEMIA; PROTEIN PROTEIN INTERACTION;

ACIDOSIS; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; ANIMALS; AWARDS AND PRIZES; CARBON-CARBON LIGASES; COS CELLS; DIMERIZATION; HUMANS; METABOLISM, INBORN ERRORS; MOLECULAR SEQUENCE DATA; MUTAGENESIS; PROPIONIC ACIDS; PROTEIN STRUCTURE, TERTIARY; SOCIETIES, MEDICAL; TWO-HYBRID SYSTEM TECHNIQUES;

EID: 0342859364     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005617420460     Document Type: Conference Paper

References (6)

1. Fenton WA, Rosenberg LE (1995) Disorders of propionate and methylmalonate metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1423-1499.
2. Fields S, Sternglanz R (1994) The two-hybrid system: an assay for protein-protein interactions. Trends Genet 10(8): 286-292.
3. Muro S, Pérez-Cerdá C, Rodríguez-Pombo P, et al (1999) Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia. J Med Genet 36(5): 412-414.
4. Rodríguez-Pombo P, Hoenicka J, Muro S, et al (1998) Human propionyl-CoA carboxylase β subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. Am J Hum Genet 63: 360-369.
5. Rodríguez-Pombo P, Hoenicka J, Muro S, et al (1999) Human propionyl-CoA carboxylase β subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. Errata. Am J Hum Genet 65: 276.
6. Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, et al (1999) An overview of mutations in the PCCA and PCCB genes causing propionic acidemia. Hum Mutat 14: 275-282.