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

• Auteurs principaux: 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)
• Format: Livre
• Publié: The Company of Biologists, 2022-05-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...