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Journal Abstract Search

212 related items for PubMed ID: 8244340

  • 21. Reversal of metabolic block in glycolysis by enzyme replacement in triosephosphate isomerase-deficient cells.
    Ationu A, Humphries A, Lalloz MR, Arya R, Wild B, Warrilow J, Morgan J, Bellingham AJ, Layton DM.
    Blood; 1999 Nov 01; 94(9):3193-8. PubMed ID: 10556207
    [Abstract] [Full Text] [Related]

  • 22. Prevalence of partial deficiency of red cell triosephosphate isomerase in Germany--a study of 3000 people.
    Eber SW, Dünnwald M, Heinemann G, Hofstätter T, Weinmann HM, Belohradsky BH.
    Hum Genet; 1984 Nov 01; 67(3):336-9. PubMed ID: 6381286
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  • 23. In silico prediction of the effects of mutations in the human triose phosphate isomerase gene: Towards a predictive framework for TPI deficiency.
    Oliver C, Timson DJ.
    Eur J Med Genet; 2017 Jun 01; 60(6):289-298. PubMed ID: 28341520
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  • 24. Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency.
    Segal J, Mülleder M, Krüger A, Adler T, Scholze-Wittler M, Becker L, Calzada-Wack J, Garrett L, Hölter SM, Rathkolb B, Rozman J, Racz I, Fischer R, Busch DH, Neff F, Klingenspor M, Klopstock T, Grüning NM, Michel S, Lukaszewska-McGreal B, Voigt I, Hartmann L, Timmermann B, Lehrach H, Wolf E, Wurst W, Gailus-Durner V, Fuchs H, H de Angelis M, Schrewe H, Yuneva M, Ralser M.
    J Inherit Metab Dis; 2019 Sep 01; 42(5):839-849. PubMed ID: 31111503
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  • 27. Triosephosphate isomerase deficiency. genetic, enzymatic and metabolic characterization of a new case from Spain.
    Repiso A, Boren J, Ortega F, Pujades A, Centelles J, Vives-Corrons JL, Climent F, Cascante M, Carreras J.
    Haematologica; 2002 Apr 01; 87(4):ECR12. PubMed ID: 11940494
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  • 28. Triosephosphate isomerase I170V alters catalytic site, enhances stability and induces pathology in a Drosophila model of TPI deficiency.
    Roland BP, Amrich CG, Kammerer CJ, Stuchul KA, Larsen SB, Rode S, Aslam AA, Heroux A, Wetzel R, VanDemark AP, Palladino MJ.
    Biochim Biophys Acta; 2015 Jan 01; 1852(1):61-9. PubMed ID: 25463631
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  • 29. Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene.
    Fermo E, Bianchi P, Vercellati C, Rees DC, Marcello AP, Barcellini W, Zanella A.
    Eur J Haematol; 2010 Aug 01; 85(2):170-3. PubMed ID: 20374271
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  • 30. Newly discovered roles of triosephosphate isomerase including functions within the nucleus.
    Myers TD, Palladino MJ.
    Mol Med; 2023 Jan 31; 29(1):18. PubMed ID: 36721084
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  • 31. Membrane fluidity of blood cells.
    Hollán S.
    Haematologia (Budap); 1996 Jan 31; 27(3):109-27. PubMed ID: 14653448
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  • 32. Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics.
    Roland BP, Zeccola AM, Larsen SB, Amrich CG, Talsma AD, Stuchul KA, Heroux A, Levitan ES, VanDemark AP, Palladino MJ.
    PLoS Genet; 2016 Mar 31; 12(3):e1005941. PubMed ID: 27031109
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  • 33. Metabolic correction of triose phosphate isomerase deficiency in vitro by complementation.
    Ationu A, Humphries A, Bellingham A, Layton M.
    Biochem Biophys Res Commun; 1997 Mar 17; 232(2):528-31. PubMed ID: 9125215
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  • 34. Triosephosphate isomerase deficiency: 2 new cases.
    Zanella A, Mariani M, Colombo MB, Borgna-Pignatti C, De Stefano P, Morgese G, Sirchia G.
    Scand J Haematol; 1985 May 17; 34(5):417-24. PubMed ID: 4012221
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  • 35. Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo.
    Roland BP, Richards KR, Hrizo SL, Eicher S, Barile ZJ, Chang TC, Savon G, Bianchi P, Fermo E, Ricerca BM, Tortorolo L, Vockley J, VanDemark AP, Palladino MJ.
    Biochim Biophys Acta Mol Basis Dis; 2019 Sep 01; 1865(9):2257-2266. PubMed ID: 31075491
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  • 36. [A case of congenital non-spherocytic hemolytic anemia caused by triose phosphate isomerase deficiency. Prenatal diagnosis].
    Poinsot J, Parent P, Alix D, Toudic L, Castel Y.
    J Genet Hum; 1986 Nov 01; 34(5):431-7. PubMed ID: 3794669
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  • 39. Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure.
    Romero JM.
    Arch Biochem Biophys; 2020 Aug 15; 689():108473. PubMed ID: 32585311
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  • 40. Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris).
    Valentin C, Pissard S, Martin J, Héron D, Labrune P, Livet MO, Mayer M, Gelbart T, Schneider A, Max-Audit I, Cohen-Solal M.
    Blood; 2000 Aug 01; 96(3):1130-5. PubMed ID: 10910933
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