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Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency
Triosephosphate isomerase (TPI) deficiency (TPI Df) is an untreatable glycolytic enzymopathy that results in hemolytic anemia, progressive muscular impairment and irreversible brain damage. Although there is a ‘common’ mutation (TPI(E105D)), other pathogenic mutations have been described. We identif...
Autores principales: | VanDemark, Andrew P., Hrizo, Stacy L., Eicher, Samantha L., Kowalski, Jules, Myers, Tracey D., Pfeifer, Megan R., Riley, Kacie N., Koeberl, Dwight D., Palladino, Michael J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Company of Biologists Ltd
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9150114/ https://www.ncbi.nlm.nih.gov/pubmed/35315486 http://dx.doi.org/10.1242/dmm.049261 |
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