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Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency

Di Meo, I., Colombelli, C., Srinivasan, B., de Villiers, M., Hamada, J., Jeong, S. Y., Fox, R., Woltjer, R. L., Tepper, P. G., Lahaye, L. L., Rizzetto, E., Harrs, C. H., de Boer, T., van der Zwaag, M., Jenko, B., Čusak, A., Pahor, J., Kosec, G., Grzeschik, N. A., Hayflick, S. J., Tiranti, V. & Sibon, O. C. M., 12-Sep-2017, In : Scientific Reports. 7, 1, 12 p., 11260.

Research output: Contribution to journalArticleAcademicpeer-review

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.

Original languageEnglish
Article number11260
Number of pages12
JournalScientific Reports
Volume7
Issue number1
Publication statusPublished - 12-Sep-2017

    Keywords

  • BRAIN IRON ACCUMULATION, COENZYME-A, ESCHERICHIA-COLI, PHOSPHOPANTOTHENOYLCYSTEINE SYNTHETASE, PANTETHINE RESCUES, COA SYNTHASE, NEURODEGENERATION, DROSOPHILA, IDENTIFICATION, BIOSYNTHESIS

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