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Journal Abstract Search

314 related items for PubMed ID: 10329019

  • 1. 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; 67(1):11-22. PubMed ID: 10329019
    [Abstract] [Full Text] [Related]

  • 2. Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
    Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, Desviat LR, Pérez B, Richard E, Muro S, Campeau E, Ohura T, Gravel RA.
    Hum Mutat; 1999 May; 14(4):275-82. PubMed ID: 10502773
    [Abstract] [Full Text] [Related]

  • 3. Structure of the PCCA gene and distribution of mutations causing propionic acidemia.
    Campeau E, Desviat LR, Leclerc D, Wu X, Pérez B, Ugarte M, Gravel RA.
    Mol Genet Metab; 2001 May; 74(1-2):238-47. PubMed ID: 11592820
    [Abstract] [Full Text] [Related]

  • 4. Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
    Chloupkova M, Maclean KN, Alkhateeb A, Kraus JP.
    Hum Mutat; 2002 Jun; 19(6):629-40. PubMed ID: 12007220
    [Abstract] [Full Text] [Related]

  • 5. Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.
    Muro S, Pérez B, Desviat LR, Rodríguez-Pombo P, Pérez-Cerdá C, Clavero S, Ugarte M.
    Mol Genet Metab; 2001 Dec; 74(4):476-83. PubMed ID: 11749052
    [Abstract] [Full Text] [Related]

  • 6. Mutations participating in interallelic complementation in propionic acidemia.
    Gravel RA, Akerman BR, Lamhonwah AM, Loyer M, Léon-del-Rio A, Italiano I.
    Am J Hum Genet; 1994 Jul; 55(1):51-8. PubMed ID: 8023851
    [Abstract] [Full Text] [Related]

  • 7. Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.
    Loyer M, Leclerc D, Gravel RA.
    Hum Mol Genet; 1995 Jun; 4(6):1035-9. PubMed ID: 7655456
    [Abstract] [Full Text] [Related]

  • 8. High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.
    Ravn K, Chloupkova M, Christensen E, Brandt NJ, Simonsen H, Kraus JP, Nielsen IM, Skovby F, Schwartz M.
    Am J Hum Genet; 2000 Jul; 67(1):203-6. PubMed ID: 10820128
    [Abstract] [Full Text] [Related]

  • 9. 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; 71(4):623-32. PubMed ID: 11136555
    [Abstract] [Full Text] [Related]

  • 10. 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; 19(3):500-5. PubMed ID: 8188292
    [Abstract] [Full Text] [Related]

  • 11. Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.
    Muro S, Rodríguez-Pombo P, Pérez B, Pérez-Cerdá C, Desviat LR, Sperl W, Skladal D, Sass JO, Ugarte M.
    Hum Mutat; 1999 Feb; 14(1):89-90. PubMed ID: 10447268
    [Abstract] [Full Text] [Related]

  • 12. Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.
    Campeau E, Dupuis L, Leclerc D, Gravel RA.
    Hum Mol Genet; 1999 Jan; 8(1):107-13. PubMed ID: 9887338
    [Abstract] [Full Text] [Related]

  • 13. Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
    Desviat LR, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P, Clavero S, Ugarte M.
    Mol Genet Metab; 2004 Jan; 83(1-2):28-37. PubMed ID: 15464417
    [Abstract] [Full Text] [Related]

  • 14. Two distinct mutations at the same site in the PCCB gene in propionic acidemia.
    Lamhonwah AM, Troxel CE, Schuster S, Gravel RA.
    Genomics; 1990 Oct; 8(2):249-54. PubMed ID: 2249848
    [Abstract] [Full Text] [Related]

  • 15. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
    Yorifuji T, Kawai M, Muroi J, Mamada M, Kurokawa K, Shigematsu Y, Hirano S, Sakura N, Yoshida I, Kuhara T, Endo F, Mitsubuchi H, Nakahata T.
    Hum Genet; 2002 Aug; 111(2):161-5. PubMed ID: 12189489
    [Abstract] [Full Text] [Related]

  • 16. Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.
    Rodríguez-Pombo P, Pérez-Cerdá C, Pérez B, Desviat LR, Sánchez-Pulido L, Ugarte M.
    Biochim Biophys Acta; 2005 Jun 10; 1740(3):489-98. PubMed ID: 15949719
    [Abstract] [Full Text] [Related]

  • 17. 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 10; 101(1):93-6. PubMed ID: 9385377
    [Abstract] [Full Text] [Related]

  • 18. 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 10; 78(1):59-67. PubMed ID: 12559849
    [Abstract] [Full Text] [Related]

  • 19. Differential effects of biotin deficiency and replenishment on rat liver pyruvate and propionyl-CoA carboxylases and on their mRNAs.
    Rodríguez-Meléndez R, Pérez-Andrade ME, Díaz A, Deolarte A, Camacho-Arroyo I, Cicerón I, Ibarra I, Velázquez A.
    Mol Genet Metab; 1999 Jan 10; 66(1):16-23. PubMed ID: 9973543
    [Abstract] [Full Text] [Related]

  • 20. Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
    Pérez-Cerdá C, Merinero B, Rodríguez-Pombo P, Pérez B, Desviat LR, Muro S, Richard E, García MJ, Gangoiti J, Ruiz Sala P, Sanz P, Briones P, Ribes A, Martínez-Pardo M, Campistol J, Pérez M, Lama R, Murga ML, Lema-Garrett T, Verdú A, Ugarte M.
    Eur J Hum Genet; 2000 Mar 10; 8(3):187-94. PubMed ID: 10780784
    [Abstract] [Full Text] [Related]

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