Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.

doi:10.1007/s10545-012-9545-3

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Article

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.

Journal of inherited metabolic disease - 1 Sept 2013

Gallego-Villar Lorena, Pérez-Cerdá Celia, Pérez Belén, Abia David, Ugarte Magdalena, Richard Eva, Desviat Lourdes R

Abstract excerpt

Propionic acidemia (PA), caused by a deficiency of the mitochondrial biotin dependent enzyme propionyl-CoA carboxylase (PCC) is one of the most frequent organic acidurias in humans. PA is caused by mutations in either the PCCA or PCCB genes encoding the α- and β-subunits of the PCC enzyme which are assembled as an α6β6 dodecamer. In this study we have investigated the molecular basis of the defect in ten...

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Identifiers

PMID: 23053474
DOI: 10.1007/s10545-012-9545-3

Genes

PCCA
PCCB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.