Janata, J; Kogekar, N; Fenton, W A (1997) Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation. Hum Mol Genet 6:1457-64
|
Tahara, T; Kraus, J P; Ohura, T et al. (1993) Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia. J Inherit Metab Dis 16:353-60
|
Taroni, F; Rosenberg, L E (1991) The precursor of the biotin-binding subunit of mammalian propionyl-CoA carboxylase can be translocated into mitochondria as apo- or holoprotein. J Biol Chem 266:13267-71
|
Ledley, F D; Jansen, R; Nham, S U et al. (1990) Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia. Proc Natl Acad Sci U S A 87:3147-50
|
Tahara, T; Kraus, J P; Rosenberg, L E (1990) An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia. Proc Natl Acad Sci U S A 87:1372-6
|
Ohura, T; Kraus, J P; Rosenberg, L E (1989) Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients. Am J Hum Genet 45:33-40
|
Isaya, G; Fenton, W A; Hendrick, J P et al. (1988) Mitochondrial import and processing of mutant human ornithine transcarbamylase precursors in cultured cells. Mol Cell Biol 8:5150-8
|