ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency

Fatty acids and glucose are the main bioenergetic substrates in mammals. Impairment of mitochondrial fatty acid oxidation causes mitochondrial myopathy leading to decreased physical performance. Here, we report that haploinsufficiency of ADCK2, a member of the aarF domain-containing mitochondrial pr...

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Bibliografiset tiedot
Julkaisussa:J Clin Med
Päätekijät: Vázquez-Fonseca, Luis, Schäefer, Jochen, Navas-Enamorado, Ignacio, Santos-Ocaña, Carlos, Hernández-Camacho, Juan D., Guerra, Ignacio, Cascajo, María V., Sánchez-Cuesta, Ana, Horvath, Zoltan, Siendones, Emilio, Jou, Cristina, Casado, Mercedes, Gutierrez-Rios, Purificación, Brea-Calvo, Gloria, López-Lluch, Guillermo, Fernández-Ayala, Daniel J.M., Cortés, Ana B., Rodríguez-Aguilera, Juan C., Matté, Cristiane, Ribes, Antonia, Prieto-Soler, Sandra Y., Dominguez-del-Toro, Eduardo, di Francesco, Andrea, Aon, Miguel A., Bernier, Michel, Salviati, Leonardo, Artuch, Rafael, de Cabo, Rafael, Jackson, Sandra, Navas, Plácido
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2019
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6780728/
https://ncbi.nlm.nih.gov/pubmed/31480808
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm8091374
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