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Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models

Abstract Background PPCS deficiency disorder (PPCS DD) is an ultra-rare, autosomal recessive form of dilated cardiomyopathy (DCM) caused by pathogenic variants in PPCS, which encodes the enzyme catalyzing the second step in the coenzyme A (CoA) biosynthesis pathway. To date, only six patients worldw...

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Príomhchruthaitheoirí: Fangfang Zhang, Tatjana Dorn, Barbara Gnutti, Yair Anikster, Sarah Kuebler, Rebecca Ahrens-Nicklas, Rachel Gosselin, Shamima Rahman, Ronen Durst, Enrica Zanuttigh, Miriam A. Güra, Christine M. Poch, Anna B. Meier, Karl-Ludwig Laugwitz, Hans-Joachim Schüller, Ana C. Messias, Ody C. Sibon, Dario Finazzi, Alyssa Rippert, Dong Li, Kristen Truxal, Deipanjan Nandi, Brent C. Lampert, Mildrid Yeo, Alice Gardham, Batel Nissan, Smadar Horowitz Cederboim, Alessandra Moretti, Arcangela Iuso
Formáid: Artigo
Teanga:Inglês
Foilsithe / Cruthaithe: Nature Portfolio 2025-07-01
Sraith:Communications Medicine
Rochtain ar líne:https://doi.org/10.1038/s43856-025-01017-z
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