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158 related items for PubMed ID: 12385775

  • 1. Functional characterization of PCCA mutations causing propionic acidemia.
    Clavero S, Martínez MA, Pérez B, Pérez-Cerdá C, Ugarte M, Desviat LR.
    Biochim Biophys Acta; 2002 Nov 20; 1588(2):119-25. PubMed ID: 12385775
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  • 2. Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
    Pérez-Cerdá C, Clavero S, Pérez B, Rodríguez-Pombo P, Desviat LR, Ugarte M.
    Biochim Biophys Acta; 2003 May 20; 1638(1):43-9. PubMed ID: 12757933
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  • 3. Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
    Pérez B, Desviat LR, Rodríguez-Pombo P, Clavero S, Navarrete R, Perez-Cerdá C, Ugarte M.
    Mol Genet Metab; 2003 Jan 20; 78(1):59-67. PubMed ID: 12559849
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  • 5. Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.
    Richard E, Desviat LR, Pérez B, Pérez-Cerdá C, Ugarte M.
    Hum Genet; 1997 Nov 20; 101(1):93-6. PubMed ID: 9385377
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  • 6. 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, Ravn K, Schwartz M, Kraus JP.
    Mol Genet Metab; 2000 Dec 20; 71(4):623-32. PubMed ID: 11136555
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  • 12. Molecular analysis of PCCB gene in Korean patients with propionic acidemia.
    Kim SN, Ryu KH, Lee EH, Kim JS, Hahn SH.
    Mol Genet Metab; 2002 Nov 20; 77(3):209-16. PubMed ID: 12409268
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  • 13. Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.
    Yang Q, Xu H, Luo J, Li M, Yi S, Zhang Q, Geng G, Feng S, Fan X.
    BMC Med Genet; 2020 Apr 06; 21(1):72. PubMed ID: 32252659
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  • 14. Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.
    Campeau E, Dupuis L, León-Del-Rio A, Gravel R.
    Mol Genet Metab; 1999 May 06; 67(1):11-22. PubMed ID: 10329019
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  • 15. Cloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblasts.
    Stankovics J, Ledley FD.
    Am J Hum Genet; 1993 Jan 06; 52(1):144-51. PubMed ID: 8434582
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  • 17. Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit.
    Lamhonwah AM, Leclerc D, Loyer M, Clarizio R, Gravel RA.
    Genomics; 1994 Feb 06; 19(3):500-5. PubMed ID: 8188292
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  • 18. 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.
    Lamhonwah AM, Barankiewicz TJ, Willard HF, Mahuran DJ, Quan F, Gravel RA.
    Proc Natl Acad Sci U S A; 1986 Jul 06; 83(13):4864-8. PubMed ID: 3460076
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