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Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency.
Dis Model Mech. 2022 May 1;15(5):dmm049261. doi: 10.1242/dmm.049261. Epub 2022 May 17.
Dis Model Mech. 2022.
PMID: 35315486
Free PMC article.
These data suggest that impaired stability, and not catalytic activity, is a better predictor of TPI Df severity. Lastly, we tested two recently discovered chemical modulators of mutant TPI stability, itavastatin and resveratrol, and observed a significant increase in TPI …
These data suggest that impaired stability, and not catalytic activity, is a better predictor of TPI Df severity. Lastly, we tested t …
Triosephosphate isomerase deficiency: predictions and facts.
Orosz F, Vértessy BG, Hollán S, Horányi M, Ovádi J.
Orosz F, et al.
J Theor Biol. 1996 Oct 7;182(3):437-47. doi: 10.1006/jtbi.1996.0184.
J Theor Biol. 1996.
PMID: 8944178
In contrast to the experimental data the theoretical calculations predict elevation in DHAP level at lower than 0.1% of the normal value of TPI activity. ...
In contrast to the experimental data the theoretical calculations predict elevation in DHAP level at lower than 0.1% of the normal va …
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Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels.
Oláh J, Orosz F, Puskás LG, Hackler L Jr, Horányi M, Polgár L, Hollán S, Ovádi J.
Oláh J, et al.
Biochem J. 2005 Dec 15;392(Pt 3):675-83. doi: 10.1042/BJ20050993.
Biochem J. 2005.
PMID: 16086671
Free PMC article.
We found that a low TPI activity in the mutant cells (lower than predicted from the protein level and specific activity of the purified recombinant enzyme) is coupled with an increase in the activities of glycolytic kinases. ...
We found that a low TPI activity in the mutant cells (lower than predicted from the protein level and specific activity of the purifi …
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Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency.
Aissa K, Kamoun F, Sfaihi L, Ghedira ES, Aloulou H, Kamoun T, Pissard S, Hachicha M.
Aissa K, et al.
Fetal Pediatr Pathol. 2014 Aug;33(4):234-8. doi: 10.3109/15513815.2014.915365. Epub 2014 May 19.
Fetal Pediatr Pathol. 2014.
PMID: 24840153
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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.
Oliver C, et al.
Eur J Med Genet. 2017 Jun;60(6):289-298. doi: 10.1016/j.ejmg.2017.03.008. Epub 2017 Mar 21.
Eur J Med Genet. 2017.
PMID: 28341520
Free article.
However, the degree of conservation of the residue was not predictive of disease severity. The majority of the 79 uncharacterised variants are potentially associated with disease since they were predicted to destabilise the protein and often occur in well-conserved …
However, the degree of conservation of the residue was not predictive of disease severity. The majority of the 79 uncharacterised var …
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