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Journal Abstract Search

211 related items for PubMed ID: 17966092

  • 1. Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.
    Rincón A, Aguado C, Desviat LR, Sánchez-Alcudia R, Ugarte M, Pérez B.
    Am J Hum Genet; 2007 Dec; 81(6):1262-70. PubMed ID: 17966092
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  • 2. The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
    Pérez B, Angaroni C, Sánchez-Alcudia R, Merinero B, Pérez-Cerdá C, Specola N, Rodríguez-Pombo P, Wajner M, de Kremer RD, Cornejo V, Desviat LR, Ugarte M.
    J Inherit Metab Dis; 2010 Oct; 33(Suppl 2):S307-14. PubMed ID: 20549364
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  • 3. A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
    Armstrong AJ, Collado MS, Henke BR, Olson MW, Hoang SA, Hamilton CA, Pourtaheri TD, Chapman KA, Summar MM, Johns BA, Wamhoff BR, Reardon JE, Figler RA.
    Mol Genet Metab; 2021 May; 133(1):71-82. PubMed ID: 33741272
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  • 4. 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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  • 5. Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
    Collado MS, Armstrong AJ, Olson M, Hoang SA, Day N, Summar M, Chapman KA, Reardon J, Figler RA, Wamhoff BR.
    Mol Genet Metab; 2020 Jul; 130(3):183-196. PubMed ID: 32451238
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  • 6. Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.
    Chapman KA, Ostrovsky J, Rao M, Dingley SD, Polyak E, Yudkoff M, Xiao R, Bennett MJ, Falk MJ.
    J Inherit Metab Dis; 2018 Mar; 41(2):157-168. PubMed ID: 29159707
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  • 9. 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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  • 10. High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.
    Desviat LR, Sanchez-Alcudia R, Pérez B, Pérez-Cerdá C, Navarrete R, Vijzelaar R, Ugarte M.
    Mol Genet Metab; 2009 Apr 06; 96(4):171-6. PubMed ID: 19157943
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  • 11. Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria).
    Pérez B, Rincón A, Jorge-Finnigan A, Richard E, Merinero B, Ugarte M, Desviat LR.
    Hum Mutat; 2009 Dec 06; 30(12):1676-82. PubMed ID: 19862841
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  • 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 06; 8(1):107-13. PubMed ID: 9887338
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  • 13. 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
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  • 15. Propionate metabolism in cultured human cells after overexpression of recombinant methylmalonyl CoA mutase: implications for somatic gene therapy.
    Wilkemeyer M, Stankovics J, Foy T, Ledley FD.
    Somat Cell Mol Genet; 1992 Nov 06; 18(6):493-505. PubMed ID: 1363155
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  • 16. Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.
    Rivera-Barahona A, Navarrete R, García-Rodríguez R, Richard E, Ugarte M, Pérez-Cerda C, Pérez B, Gámez A, Desviat LR.
    Mol Genet Metab; 2018 Nov 06; 125(3):266-275. PubMed ID: 30274917
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