Browsing by Author "Jeong, Suh Y."

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    Acetyl-4′-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency
    (Nature Research, 2017-09-12) Di Meo, Ivano; Colombelli, Cristina; Srinivasan, Balaji; De Villiers, Marianne; Hamada, Jeffrey; Jeong, Suh Y.; Fox, Rachel; Woltjer, Randall L.; Tepper, Pieter G.; Lahaye, Liza L.; Rizzetto, Emanuela; Harrs, Clara H.; De Boer, Theo; Van der Zwaag, Marianne; Jenko, Branko; Cusak, Alen; Pahor, Jerca; Kosec, Gregor; Grzeschik, Nicola A.; Hayflick, Susan J.; Tiranti, Valeria; Sibon, Ody C. M.
    Coenzyme A is an essential metabolite known for its central role in over one hundred cellular metabolic reactions. In cells, Coenzyme A is synthesized de novo in five enzymatic steps with vitamin B5 as the starting metabolite, phosphorylated by pantothenate kinase. Mutations in the pantothenate kinase 2 gene cause a severe form of neurodegeneration for which no treatment is available. One therapeutic strategy is to generate Coenzyme A precursors downstream of the defective step in the pathway. Here we describe the synthesis, characteristics and in vivo rescue potential of the acetyl-Coenzyme A precursor S-acetyl-4′-phosphopantetheine as a possible treatment for neurodegeneration associated with pantothenate kinase deficiency.