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Article

Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.

Human molecular genetics - 1 Jun 1995

Loyer M, Leclerc D, Gravel R A

Abstract excerpt

Propionic acidemia results from deficiency of propionyl-CoA carboxylase (PCC) activity. PCC is a biotin-dependent, mitochondrial enzyme composed of alpha- and beta-subunits (structure, alpha 4 beta 4), with the alpha-subunit containing the biotin ligand. About two-thirds of fibroblast lines from patients with mutations in the PCCB (beta-subunit) gene show interallelic complementation in cell fusion experiments...

Topics

Amino Acid Metabolism, Inborn Errors
Carboxy-Lyases
Cell Line
DNA, Complementary
Fibroblasts
Genetic Complementation Test
Humans
Methylmalonyl-CoA Decarboxylase
Microinjections
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Plasmids

Propionates

Source

Identifiers

PMID: 7655456
DOI: 10.1093/hmg/4.6.1035

Genes

PCCB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7655456-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.PMID 7655456Read ↗

Mutations participating in interallelic complementation in propionic acidemia.Semantic proximity Read ↗

Two distinct mutations at the same site in the PCCB gene in propionic acidemia.Semantic proximity Read ↗

Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits.Semantic proximity Read ↗

Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.Semantic proximity Read ↗

Functional characterization of PCCA mutations causing propionic acidemia.Semantic proximity Read ↗

Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.Semantic proximity Read ↗

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.Semantic proximity Read ↗

An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.Semantic proximity Read ↗

Changes in the carboxyl terminus of the beta 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.Semantic proximity Read ↗

Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.Semantic proximity Read ↗

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.Semantic proximity Read ↗

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.Semantic proximity Read ↗

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