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

• Principais autores: Andrew P. VanDemark (Autor), Stacy L. Hrizo (Autor), Samantha L. Eicher (Autor), Jules Kowalski (Autor), Tracey D. Myers (Autor), Megan R. Pfeifer (Autor), Kacie N. Riley (Autor), Dwight D. Koeberl (Autor), Michael J. Palladino (Autor)
• Formato: Livro
• Publicado em: The Company of Biologists, 2022-05-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...