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Journal Abstract Search

145 related items for PubMed ID: 2037281

  • 1. Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.
    Ohura T, Miyabayashi S, Narisawa K, Tada K.
    Hum Genet; 1991 May; 87(1):41-4. PubMed ID: 2037281
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  • 2. 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
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  • 3. 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
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  • 4. 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
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  • 5. Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits.
    Rodriguez-Pombo P, Pérez-Cerdá C, Desviat LR, Pérez B, Ugarte M, Rodríguez-Pombo P.
    Mol Genet Metab; 2002 Mar; 75(3):276-9. PubMed ID: 11914040
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  • 6. 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
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  • 8. 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; 101(1):93-6. PubMed ID: 9385377
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  • 11. Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.
    Ohura T, Kraus JP, Rosenberg LE.
    Am J Hum Genet; 1989 Jul; 45(1):33-40. PubMed ID: 2741949
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  • 12. 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
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  • 14. Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.
    Rodríguez-Pombo P, Hoenicka J, Muro S, Pérez B, Pérez-Cerdá C, Richard E, Desviat LR, Ugarte M.
    Am J Hum Genet; 1998 Aug; 63(2):360-9. PubMed ID: 9683601
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  • 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
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  • 17. Chaperonin-mediated assembly of wild-type and mutant subunits of human propionyl-CoA carboxylase expressed in Escherichia coli.
    Kelson TL, Ohura T, Kraus JP.
    Hum Mol Genet; 1996 Mar; 5(3):331-7. PubMed ID: 8852656
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  • 18. Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein.
    Richard E, Desviat LR, Pérez B, Pérez-Cerdá C, Ugarte M.
    Biochim Biophys Acta; 1999 Mar 30; 1453(3):351-8. PubMed ID: 10101253
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  • 20. 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 30; 8(2):249-54. PubMed ID: 2249848
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