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Journal Abstract Search

200 related items for PubMed ID: 15890657

  • 21. 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; 78(1):59-67. PubMed ID: 12559849
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. 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]

  • 24. Absence of cross-reacting material in isolated propionyl CoA carboxylase deficiency: nature of residual carboxylating activity.
    Kalousek F, Orsulak MD, Rosenberg LR.
    Am J Hum Genet; 1983 May; 35(3):409-20. PubMed ID: 6859037
    [Abstract] [Full Text] [Related]

  • 25. Propionyl coenzyme A (propionyl-CoA) carboxylase in Haloferax mediterranei: Indispensability for propionyl-CoA assimilation and impacts on global metabolism.
    Hou J, Xiang H, Han J.
    Appl Environ Microbiol; 2015 Jan; 81(2):794-804. PubMed ID: 25398867
    [Abstract] [Full Text] [Related]

  • 26. 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]

  • 27. Investigating the role of native propionyl-CoA and methylmalonyl-CoA metabolism on heterologous polyketide production in Escherichia coli.
    Zhang H, Boghigian BA, Pfeifer BA.
    Biotechnol Bioeng; 2010 Feb 15; 105(3):567-73. PubMed ID: 19806677
    [Abstract] [Full Text] [Related]

  • 28. 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
    [Abstract] [Full Text] [Related]

  • 29. 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 06; 63(2):360-9. PubMed ID: 9683601
    [Abstract] [Full Text] [Related]

  • 30. Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.
    Al-Hamed MH, Imtiaz F, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Alamoudi MS, Faqeih E, Alfadhel M, Al-Asmari A, Saleh MM, Almutairi F, Moghrabi N, AlSayed M.
    Mol Genet Metab Rep; 2019 Mar 06; 18():22-29. PubMed ID: 30705822
    [Abstract] [Full Text] [Related]

  • 31. 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 06; 134(3):257-266. PubMed ID: 34635437
    [Abstract] [Full Text] [Related]

  • 32. Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia.
    Gotoh K, Nakajima Y, Tajima G, Watanabe Y, Hotta Y, Kataoka T, Kawade Y, Sugiyama N, Ito T, Kimura K, Maeda Y.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2017 Mar 01; 1046():195-199. PubMed ID: 28189105
    [Abstract] [Full Text] [Related]

  • 33. 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 01; 4(6):1035-9. PubMed ID: 7655456
    [Abstract] [Full Text] [Related]

  • 34. 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 01; 75(3):276-9. PubMed ID: 11914040
    [Abstract] [Full Text] [Related]

  • 35. Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.
    Chiu YH, Liu YN, Liao WL, Chang YC, Lin SP, Hsu CC, Chiu PC, Niu DM, Wang CH, Ke YY, Chien YH, Hsiao KJ, Liu TT.
    Biochem Genet; 2014 Oct 01; 52(9-10):415-29. PubMed ID: 24863100
    [Abstract] [Full Text] [Related]

  • 36. 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
    [Abstract] [Full Text] [Related]

  • 37. 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 Nov 20; 74(1-2):238-47. PubMed ID: 11592820
    [Abstract] [Full Text] [Related]

  • 38. 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 20; 83(13):4864-8. PubMed ID: 3460076
    [Abstract] [Full Text] [Related]

  • 39. 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 Jul 20; 83(1-2):28-37. PubMed ID: 15464417
    [Abstract] [Full Text] [Related]

  • 40. Dual mRNA therapy restores metabolic function in long-term studies in mice with propionic acidemia.
    Jiang L, Park JS, Yin L, Laureano R, Jacquinet E, Yang J, Liang S, Frassetto A, Zhuo J, Yan X, Zhu X, Fortucci S, Hoar K, Mihai C, Tunkey C, Presnyak V, Benenato KE, Lukacs CM, Martini PGV, Guey LT.
    Nat Commun; 2020 Oct 21; 11(1):5339. PubMed ID: 33087718
    [Abstract] [Full Text] [Related]

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