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Items: 1 to 20 of 36

1.
Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome?
Hans-Joachim Schurek, Peter Maisel, Udo Helmchen, Björn Reusch, Arnulf Pekrun
Case Rep Nephrol Dial. 2022 Sep-Dec; 12(3): 226–233. Published online 2022 Nov 11. doi: 10.1159/000527330
PMCID:
PMC9710468
AbstractArticlePDF–450K
2.
Murine model of triosephosphate isomerase deficiency with anemia and severe neuromuscular dysfunction
Tracey D. Myers, Carolyn Ferguson, Eric Gliniak, Gregg E. Homanics, Michael J. Palladino
Curr Res Neurobiol. 2022; 3: 100062. Published online 2022 Nov 9. doi: 10.1016/j.crneur.2022.100062
PMCID:
PMC9673098
AbstractArticlePDF–7.4M
3.
Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics
Bartholomew P. Roland, Alison M. Zeccola, Samantha B. Larsen, Christopher G. Amrich, Aaron D. Talsma, Kimberly A. Stuchul, Annie Heroux, Edwin S. Levitan, Andrew P. VanDemark, Michael J. Palladino
PLoS Genet. 2016 Mar; 12(3): e1005941. Published online 2016 Mar 31. doi: 10.1371/journal.pgen.1005941
PMCID:
PMC4816394
AbstractArticlePDF–2.1M
4.
Human triosephosphate isomerase deficiency resulting from mutation of Phe-240.
M L Chang, P J Artymiuk, X Wu, S Hollán, A Lammi, L E Maquat
Am J Hum Genet. 1993 Jun; 52(6): 1260–1269.
PMCID:
PMC1682273
SummaryPage BrowsePDF–1.8M
5.
Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels
Judit Oláh, Ferenc Orosz, László G. Puskás, László Hackler, Jr, Margit Horányi, László Polgár, Susan Hollán, Judit Ovádi
Biochem J. 2005 Dec 15; 392(Pt 3): 675–683. Prepublished online 2005 Aug 9. Published online 2005 Dec 6. doi: 10.1042/BJ20050993
PMCID:
PMC1316309
AbstractArticlePDF–273K
6.
Search for the pathogenesis of the differing phenotype in two compound heterozygote Hungarian brothers with the same genotypic triosephosphate isomerase deficiency
Susan Hollán, Mária Magócsi, Elfrieda Fodor, Margit Horányi, Veronika Harsányi, Tibor Farkas
Proc Natl Acad Sci U S A. 1997 Sep 16; 94(19): 10362–10366. doi: 10.1073/pnas.94.19.10362
PMCID:
PMC23368
AbstractArticlePDF–299K
7.
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature
Arzu Selamioğlu, Meryem Karaca, Mehmet Cihan Balcı, Hüseyin Kutay Körbeyli, Aslı Durmuş, Edibe Pembegül Yıldız, Serap Karaman, Gülden Fatma Gökçay
Mol Syndromol. 2023 Jun; 14(3): 231–238. Published online 2023 Jan 19. doi: 10.1159/000528192
PMCID:
PMC10267495
AbstractArticlePDF–363K
8.
Triose-phosphate isomerase deficiency is associated with a dysregulation of synaptic vesicle recycling in Drosophila melanogaster
Aelfwin Stone, Oliver Cujic, Angel Rowlett, Sophia Aderhold, Emma Savage, Bruce Graham, Joern R. Steinert
Front Synaptic Neurosci. 2023; 15: 1124061. Published online 2023 Feb 28. doi: 10.3389/fnsyn.2023.1124061
PMCID:
PMC10011161
AbstractArticlePDF–4.4M
9.
Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency
Andrew P. VanDemark, Stacy L. Hrizo, Samantha L. Eicher, Jules Kowalski, Tracey D. Myers, Megan R. Pfeifer, Kacie N. Riley, Dwight D. Koeberl, Michael J. Palladino
Dis Model Mech. 2022 May 1; 15(5): dmm049261. Published online 2022 May 17. doi: 10.1242/dmm.049261
PMCID:
PMC9150114
AbstractArticle
10.
A high content screening assay for small molecules that stabilize mutant triose phosphate isomerase (TPI) as treatments for TPI deficiency
Andreas Vogt, Samantha L. Eicher, Tracey D. Myers, Stacy L. Hrizo, Laura L. Vollmer, E. Michael Meyer, Michael J. Palladino
SLAS Discov. Author manuscript; available in PMC 2021 Sep 1.
Published in final edited form as: SLAS Discov. 2021 Sep; 26(8): 1029–1039. Published online 2021 Jun 24. doi: 10.1177/24725552211018198
PMCID:
PMC8380696
AbstractArticlePDF–1.8M
11.
Early mitochondrial dysfunction leads to altered redox chemistry underlying pathogenesis of TPI deficiency
Stacy L. Hrizo, Isaac J. Fisher, Daniel R. Long, Joshua A. Hutton, Zhaohui Liu, Michael J. Palladino
Neurobiol Dis. Author manuscript; available in PMC 2014 Jun 1.
Published in final edited form as: Neurobiol Dis. 2013 Jun; 54: 289–296. Published online 2013 Jan 12. doi: 10.1016/j.nbd.2012.12.020
PMCID:
PMC3628936
AbstractArticlePDF–1.0M
12.
Triose Phosphate Isomerase Deficiency Is Caused by Altered Dimerization–Not Catalytic Inactivity–of the Mutant Enzymes
Markus Ralser, Gino Heeren, Michael Breitenbach, Hans Lehrach, Sylvia Krobitsch
PLoS One. 2006; 1(1): e30. Published online 2006 Dec 20. doi: 10.1371/journal.pone.0000030
PMCID:
PMC1762313
AbstractArticlePDF–701K
13.
Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme.
I O Daar, P J Artymiuk, D C Phillips, L E Maquat
Proc Natl Acad Sci U S A. 1986 Oct; 83(20): 7903–7907. doi: 10.1073/pnas.83.20.7903
PMCID:
PMC386831
SummaryPage BrowsePDF–1.3M
14.
Erythrocyte lipids in triose-phosphate isomerase deficiency.
S Hollán, I Dey, L Szollár, M Horányi, M Magócsi, V Harsányi, T Farkas
Proc Natl Acad Sci U S A. 1995 Jan 3; 92(1): 268–271. doi: 10.1073/pnas.92.1.268
PMCID:
PMC42859
SummaryPage BrowsePDF–860K
15.
Newly discovered roles of triosephosphate isomerase including functions within the nucleus
Tracey D. Myers, Michael J. Palladino
Mol Med. 2023; 29: 18. Published online 2023 Jan 31. doi: 10.1186/s10020-023-00612-x
PMCID:
PMC9890696
AbstractArticlePDF–1.7M
16.
Hsp70 and Hsp90 mediated proteasomal degradation underlies TPIsugarkill pathogenesis in Drosophila
Stacy L. Hrizo, Michael J. Palladino
Neurobiol Dis. Author manuscript; available in PMC 2011 Dec 1.
Published in final edited form as: Neurobiol Dis. 2010 Dec; 40(3): 676–683. Published online 2010 Aug 19. doi: 10.1016/j.nbd.2010.08.011
PMCID:
PMC2955819
AbstractArticlePDF–654K
17.
Degradation of Functional Triose Phosphate Isomerase Protein Underlies sugarkill Pathology
Jacquelyn L. Seigle, Alicia M. Celotto, Michael J. Palladino
Genetics. 2008 Jun; 179(2): 855–862. doi: 10.1534/genetics.108.087551
PMCID:
PMC2429879
AbstractArticlePDF–511K
18.
Sequencing and genotypic analysis of the triosephosphate isomerase (TPI1) locus in a large sample of long-lived Germans
Markus Ralser, Almut Nebel, Rabea Kleindorp, Sylvia Krobitsch, Hans Lehrach, Stefan Schreiber, Richard Reinhardt, Bernd Timmermann
BMC Genet. 2008; 9: 38. Published online 2008 May 29. doi: 10.1186/1471-2156-9-38
PMCID:
PMC2424074
AbstractArticlePDF–208K
19.
Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus.
M. Watanabe, B. C. Zingg, H. W. Mohrenweiser
Am J Hum Genet. 1996 Feb; 58(2): 308–316.
PMCID:
PMC1914533
SummaryPage BrowsePDF–1.8M
20.
Characterization of Triosephosphate Isomerase Mutants with Reduced Enzyme Activity in Mus Musculus
S. Merkle, W. Pretsch
Genetics. 1989 Dec; 123(4): 837–844. doi: 10.1093/genetics/123.4.837
PMCID:
PMC1203893
SummaryPDF–871K

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