Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

Coenzyme A (CoA) is an essential metabolic cofactor used by around 4% of cellular enzymes. Its role is to carry and transfer acetyl and acyl groups to other molecules. Cells can synthesize CoA de novo from vitamin B5 (pantothenate) through five consecutive enzymatic steps. Phosphopantothenoylcystein...

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Udgivet i:Am J Hum Genet
Main Authors: Iuso, Arcangela, Wiersma, Marit, Schüller, Hans-Joachim, Pode-Shakked, Ben, Marek-Yagel, Dina, Grigat, Mathias, Schwarzmayr, Thomas, Berutti, Riccardo, Alhaddad, Bader, Kanon, Bart, Grzeschik, Nicola A., Okun, Jürgen G., Perles, Zeev, Salem, Yishay, Barel, Ortal, Vardi, Amir, Rubinshtein, Marina, Tirosh, Tal, Dubnov-Raz, Gal, Messias, Ana C., Terrile, Caterina, Barshack, Iris, Volkov, Alex, Avivi, Camilla, Eyal, Eran, Mastantuono, Elisa, Kumbar, Muhamad, Abudi, Shachar, Braunisch, Matthias, Strom, Tim M., Meitinger, Thomas, Hoffmann, Georg F., Prokisch, Holger, Haack, Tobias B., Brundel, Bianca J.J.M., Haas, Dorothea, Sibon, Ody C.M., Anikster, Yair
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5992122/
https://ncbi.nlm.nih.gov/pubmed/29754768
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.03.022
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