Transfection Screening for Defects in the PCCA and PCCB Genes Encoding Propionyl-CoA Carboxylase Subunits
| Autor: | P, Rodriguez-Pombo, C, Pérez-Cerdá, L R, Desviat, B, Pérez, M, Ugarte, P, Rodríguez-Pombo |
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| Rok vydání: | 2002 |
| Předmět: |
Methylmalonyl-CoA Decarboxylase
Carboxy-Lyases Endocrinology Diabetes and Metabolism Propionyl-CoA carboxylase Biology Transfection medicine.disease_cause Biochemistry Gene Expression Regulation Enzymologic Cell Line Endocrinology Complementary DNA Genetics medicine Humans Propionic acidemia Molecular Biology Mutation Genetic Complementation Test medicine.disease Molecular biology Pyruvate carboxylase Complementation Propionates Methylmalonyl-CoA decarboxylase Metabolism Inborn Errors Plasmids |
| Zdroj: | Molecular Genetics and Metabolism. 75:276-279 |
| ISSN: | 1096-7192 |
| DOI: | 10.1006/mgme.2001.3296 |
| Popis: | Propionic acidemia can result from mutations in the PCCA or PCCB genes encoding the alpha and beta subunits, respectively, of propionyl-CoA carboxylase. We have developed a method based on complementation of the enzyme defect using a lipid-mediated transient transfection of the normal human PCCA or PCCB cDNA into primary fibroblasts. We demonstrate the reliability of this method for identification of the defective PCC gene in order to unequivocally approach the mutational analysis in the corresponding PCCA and PCCB genes. |
| Databáze: | OpenAIRE |
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