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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Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
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Article
Acesso em linha: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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