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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6780728/
https://www.ncbi.nlm.nih.gov/pubmed/31480808
http://dx.doi.org/10.3390/jcm8091374

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