362 related articles for article (PubMed ID: 17183658)
1. Triose phosphate isomerase deficiency is caused by altered dimerization--not catalytic inactivity--of the mutant enzymes.
Ralser M; Heeren G; Breitenbach M; Lehrach H; Krobitsch S
PLoS One; 2006 Dec; 1(1):e30. PubMed ID: 17183658
[TBL] [Abstract][Full Text] [Related]
2. Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels.
Oláh J; Orosz F; Puskás LG; Hackler L; Horányi M; Polgár L; Hollán S; Ovádi J
Biochem J; 2005 Dec; 392(Pt 3):675-83. PubMed ID: 16086671
[TBL] [Abstract][Full Text] [Related]
3. 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; 1865(9):2257-2266. PubMed ID: 31075491
[TBL] [Abstract][Full Text] [Related]
4. Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency.
Orosz F; Oláh J; Alvarez M; Keseru GM; Szabó B; Wágner G; Kovári Z; Horányi M; Baróti K; Martial JA; Hollán S; Ovádi J
Blood; 2001 Nov; 98(10):3106-12. PubMed ID: 11698297
[TBL] [Abstract][Full Text] [Related]
5. Triosephosphate isomerase deficiency: facts and doubts.
Orosz F; Oláh J; Ovádi J
IUBMB Life; 2006 Dec; 58(12):703-15. PubMed ID: 17424909
[TBL] [Abstract][Full Text] [Related]
6. 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; 1852(1):61-9. PubMed ID: 25463631
[TBL] [Abstract][Full Text] [Related]
7. Degradation of functional triose phosphate isomerase protein underlies sugarkill pathology.
Seigle JL; Celotto AM; Palladino MJ
Genetics; 2008 Jun; 179(2):855-62. PubMed ID: 18458110
[TBL] [Abstract][Full Text] [Related]
8. Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency.
Arya R; Lalloz MR; Bellingham AJ; Layton DM
Hum Mutat; 1997; 10(4):290-4. PubMed ID: 9338582
[TBL] [Abstract][Full Text] [Related]
9. 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; 60(6):289-298. PubMed ID: 28341520
[TBL] [Abstract][Full Text] [Related]
10. Triosephosphate isomerase deficiency: predictions and facts.
Orosz F; Vértessy BG; Hollán S; Horányi M; Ovádi J
J Theor Biol; 1996 Oct; 182(3):437-47. PubMed ID: 8944178
[TBL] [Abstract][Full Text] [Related]
11. 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; 232(2):528-31. PubMed ID: 9125215
[TBL] [Abstract][Full Text] [Related]
12. 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; 42(5):839-849. PubMed ID: 31111503
[TBL] [Abstract][Full Text] [Related]
13. Evidence of a triosephosphate isomerase non-catalytic function crucial to behavior and longevity.
Roland BP; Stuchul KA; Larsen SB; Amrich CG; Vandemark AP; Celotto AM; Palladino MJ
J Cell Sci; 2013 Jul; 126(Pt 14):3151-8. PubMed ID: 23641070
[TBL] [Abstract][Full Text] [Related]
14. Triosephosphate isomerase deficiency: a patient with Val231Met mutation.
Serdaroglu G; Aydinok Y; Yilmaz S; Manco L; Ozer E
Pediatr Neurol; 2011 Feb; 44(2):139-42. PubMed ID: 21215915
[TBL] [Abstract][Full Text] [Related]
15. 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; 12(3):e1005941. PubMed ID: 27031109
[TBL] [Abstract][Full Text] [Related]
16. 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; 85(2):170-3. PubMed ID: 20374271
[TBL] [Abstract][Full Text] [Related]
17. Evolutionary walk between (β/α)(8) barrels: catalytic migration from triosephosphate isomerase to thiamin phosphate synthase.
Saab-Rincón G; Olvera L; Olvera M; Rudiño-Piñera E; Benites E; Soberón X; Morett E
J Mol Biol; 2012 Feb; 416(2):255-70. PubMed ID: 22226942
[TBL] [Abstract][Full Text] [Related]
18. Biochemical characterisation of triose phosphate isomerase from the liver fluke Fasciola hepatica.
Zinsser VL; Hoey EM; Trudgett A; Timson DJ
Biochimie; 2013 Nov; 95(11):2182-9. PubMed ID: 23973283
[TBL] [Abstract][Full Text] [Related]
19. Cellular and biochemical characterization of two closely related triosephosphate isomerases from Trichomonas vaginalis.
Figueroa-Angulo EE; Estrella-Hernández P; Salgado-Lugo H; Ochoa-Leyva A; Gómez Puyou A; Campos SS; Montero-Moran G; Ortega-López J; Saab-Rincón G; Arroyo R; Benítez-Cardoza CG; Brieba LG
Parasitology; 2012 Nov; 139(13):1729-38. PubMed ID: 22931930
[TBL] [Abstract][Full Text] [Related]
20. High-resolution crystal structure and redox properties of chloroplastic triosephosphate isomerase from Chlamydomonas reinhardtii.
Zaffagnini M; Michelet L; Sciabolini C; Di Giacinto N; Morisse S; Marchand CH; Trost P; Fermani S; Lemaire SD
Mol Plant; 2014 Jan; 7(1):101-20. PubMed ID: 24157611
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
