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

doi:10.1016/j.ajhg.2018.03.022

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Article

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

American journal of human genetics - 7 Jun 2018

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

Abstract excerpt

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. Phosphopantothenoylcysteine synthetase (PPCS) catalyzes the second step of the pathway during which phosphopantothenate reacts with ATP and...

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PMID: 29754768
DOI: 10.1016/j.ajhg.2018.03.022
PMCID: PMC5992122

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PPCS

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