Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency

• Hoofdauteurs: Andrew P. VanDemark (Auteur), Stacy L. Hrizo (Auteur), Samantha L. Eicher (Auteur), Jules Kowalski (Auteur), Tracey D. Myers (Auteur), Megan R. Pfeifer (Auteur), Kacie N. Riley (Auteur), Dwight D. Koeberl (Auteur), Michael J. Palladino (Auteur)
• Formaat: Boek
• Gepubliceerd in: The Company of Biologists, 2022-05-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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 (TPIE105D), other pathogenic mutations have been described. We...