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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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Detalhes bibliográficos
Publicado no:J Clin Med
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
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Acesso em linha: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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