Molecular Biology/Biochemistry

• Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.
• Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.
• Mutation studies in propionic acidaemia and methylmalonic aciduria
• Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
• Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
• Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.

• High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase