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...

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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2022
Materias:
Research Article
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

Internet

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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