Propionic acidemia: mutation update and functional and structural effects of the variant alleles.

@article{Desviat2004PropionicAM,
  title={Propionic acidemia: mutation update and functional and structural effects of the variant alleles.},
  author={L. Desviat and B. P{\'e}rez and C. P{\'e}rez-Cerd{\'a} and P. Rodr{\'i}guez-Pombo and S. Clavero and M. Ugarte},
  journal={Molecular genetics and metabolism},
  year={2004},
  volume={83 1-2},
  pages={
          28-37
        }
}
Mutations in the PCCA or PCCB genes, encoding both subunits of propionyl-CoA carboxylase, result in propionic acidemia, a life-threatening inborn error of metabolism with autosomal recessive inheritance. To date, 41 mutations in the PCCA gene and 54 in the PCCB gene have been reported, most of them single base substitutions causing amino acid replacements, and a variety of small insertions and deletions and splicing defects. A greater heterogeneity is observed in the PCCA gene, specially in… Expand
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72 Citations

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High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.
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New splicing mutations in propionic acidemia
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Propionic Academia: Exome Sequencing Identified Novel Mutation in Exon 12 of PCCA Gene
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia
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Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia
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Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.
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The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America
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[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?].
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Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing.
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Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.
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References

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