Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Propionyl-CoA carboxylase - A review.
Wongkittichote P et al.
Molecular Genetics and Metabolism, 2017
Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.
Rodríguez-Pombo P et al.
Biochimica Et Biophysica Acta, 2005
Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
Pérez-Cerdá C et al.
Biochimica Et Biophysica Acta, 2003
Transcarboxylase 12S crystal structure: hexamer assembly and substrate binding to a multienzyme core.
Hall PR et al.
The Embo Journal, 2003
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
Chloupkova M et al.
Human Mutation, 2002
Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.
Muro S et al.
Molecular Genetics and Metabolism, 2001
Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli.
Chloupková M et al.
Molecular Genetics and Metabolism, 2000
Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: an approach to the determination of the beta-propionyl-CoA carboxylase functional domains.
Muro S et al.
Journal of Inherited Metabolic Disease, 2000
Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
Pérez-Cerdá C et al.
European Journal of Human Genetics : Ejhg, 2000
Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.
Muro S et al.
Journal of Medical Genetics, 1999
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Ugarte M et al.
Human Mutation, 1999
Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.
Rodríguez-Pombo P et al.
American Journal of Human Genetics, 1998
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0