Functional characterization of PCCA mutations causing propionic acidemia
Author:
Publisher
Elsevier BV
Subject
Molecular Biology,Molecular Medicine
Reference33 articles.
1. The Metabolic and Molecular Bases of Inherited Disease;Fenton,2001
2. Targeting of Nuclear-Encoded Proteins to the Mitochondrial Matrix: Implications for Human Genetic Defects
3. Propionic acidaemia: Sequence analysis of mutant mRNAs from Japanese ? subunit-deficient patients
4. Correction of the Metabolic Defect in Propionic Acidemia Fibroblasts by Microinjection of a Full-Length cDNA or RNA Transcript Encoding the Propionyl-CoA Carboxylase β Subunit
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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. Prevalence of propionic acidemia in China;Orphanet Journal of Rare Diseases;2023-09-09
3. RegulatingPCCAgene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia;2023-07-05
4. Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia;Journal of Inherited Metabolic Disease;2022-11-03
5. Propionic acidemia in mice: Liver acyl-CoA levels and clinical course;Molecular Genetics and Metabolism;2022-01
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