Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts
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Elsevier BV
Reference33 articles.
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2. Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes.
3. Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase.
4. Structure of the PCCA Gene and Distribution of Mutations Causing Propionic Acidemia
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1. Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia;Molecular Therapy - Nucleic Acids;2024-03
2. Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia;Gene;2024-01
3. Prevalence of propionic acidemia in China;Orphanet Journal of Rare Diseases;2023-09-09
4. Pathophysiological mechanisms of complications associated with propionic acidemia;Pharmacology & Therapeutics;2023-09
5. Propionic acid induces alterations in mitochondrial morphology and dynamics in SH-SY5Y cells;Scientific Reports;2023-08-15
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