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Journal Abstract Search

158 related items for PubMed ID: 12385775

  • 21. 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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  • 23. 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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  • 28. Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.
    Jiang H, Rao KS, Yee VC, Kraus JP.
    J Biol Chem; 2005 Jul 29; 280(30):27719-27. PubMed ID: 15890657
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  • 29. Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation.
    Tian Y, Wang G, Shi W, Bai X.
    BMC Pregnancy Childbirth; 2020 Nov 12; 20(1):689. PubMed ID: 33183246
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  • 30. Clinical characteristics and mutation analysis of propionic acidemia in Thailand.
    Vatanavicharn N, Liammongkolkul S, Sakamoto O, Kamolsilp M, Sathienkijkanchai A, Wasant P.
    World J Pediatr; 2014 Feb 12; 10(1):64-8. PubMed ID: 24464666
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  • 31. 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 12; 8(1):107-13. PubMed ID: 9887338
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  • 32. An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.
    Tahara T, Kraus JP, Rosenberg LE.
    Proc Natl Acad Sci U S A; 1990 Feb 12; 87(4):1372-6. PubMed ID: 2154743
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  • 33. 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 12; 74(4):476-83. PubMed ID: 11749052
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  • 35. Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.
    Chapman KA, Collado MS, Figler RA, Hoang SA, Armstrong AJ, Cui W, Purdy M, Simmers MB, Yazigi NA, Summar ML, Wamhoff BR, Dash A.
    Mol Genet Metab; 2016 Mar 12; 117(3):355-362. PubMed ID: 26740382
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  • 36. Metabolic perturbations mediated by propionyl-CoA accumulation in organs of mouse model of propionic acidemia.
    He W, Wang Y, Xie EJ, Barry MA, Zhang GF.
    Mol Genet Metab; 2021 Nov 12; 134(3):257-266. PubMed ID: 34635437
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  • 37. 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 12; 8(3):187-94. PubMed ID: 10780784
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  • 38. 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 12; 55(1):51-8. PubMed ID: 8023851
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  • 39. Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.
    Lamhonwah AM, Gravel RA.
    Am J Hum Genet; 1987 Dec 12; 41(6):1124-31. PubMed ID: 3687944
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