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Article

Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.

Human molecular genetics - 1 Jan 1999

Campeau E, Dupuis L, Leclerc D, Gravel R A

Abstract excerpt

Propionic acidemia is an autosomal recessive disorder caused by a deficiency in the mitochondrial enzyme propionyl-CoA carboxylase (PCC). PCC is composed of two subunits, alpha and beta, encoded by the PCCA and PCCB genes, respectively. We analyzed mutations of the PCCA gene using patients' fibroblasts diagnosed with alpha subunit deficiency. By RT-PCR, four of 12 cell lines examined appeared to have a larger...

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Source

Identifiers

PMID: 9887338
DOI: 10.1093/hmg/8.1.107

Genes

PCCA
PCCB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.PMID 9887338Read ↗

Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes.Semantic proximity Read ↗

Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein.Semantic proximity Read ↗

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

The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.Semantic proximity Read ↗

A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.Semantic proximity Read ↗

New splicing mutations in propionic acidemia.Semantic proximity Read ↗

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

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

Propionic acidemia: mutation update and functional and structural effects of the variant alleles.Semantic proximity Read ↗

Novel Heterozygous PCCA Mutations with Fatal Outcome in Propionic Acidemia.Semantic proximity Read ↗

Regulating <i>PCCA</i> gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemiaSemantic 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 ↗

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