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

• Автори: Andrew P. VanDemark (Автор), Stacy L. Hrizo (Автор), Samantha L. Eicher (Автор), Jules Kowalski (Автор), Tracey D. Myers (Автор), Megan R. Pfeifer (Автор), Kacie N. Riley (Автор), Dwight D. Koeberl (Автор), Michael J. Palladino (Автор)
• Формат: Книга
• Опубліковано: The Company of Biologists, 2022-05-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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...