Pathomechanisms in Coenzyme Q(10)-Deficient Human Fibroblasts

Por López, Luis C., Luna-Sánchez, Marta, García-Corzo, Laura, Quinzii, Catarina M., Hirano, Michio
Publicado em 2014

The Role of Sulfide Oxidation Impairment in the Pathogenesis of Primary CoQ Deficiency

Por Quinzii, Catarina M., Luna-Sanchez, Marta, Ziosi, Marcello, Hidalgo-Gutierrez, Agustin, Kleiner, Giulio, Lopez, Luis C.
Publicado no Front Physiol (2017)

Acute and chronic mitochondrial respiratory chain deficiency differentially regulate lysosomal biogenesis

Por Fernández-Mosquera, Lorena, Diogo, Cátia V., Yambire, King Faisal, Santos, Gabriela L., Luna Sánchez, Marta, Bénit, Paule, Rustin, Pierre, Lopez, Luis Carlos, Milosevic, Ira, Raimundo, Nuno
Publicado no Sci Rep (2017)

The clinical heterogeneity of coenzyme Q(10) deficiency results from genotypic differences in the Coq9 gene

Por Luna-Sánchez, Marta, Díaz-Casado, Elena, Barca, Emanuele, Tejada, Miguel Ángel, Montilla-García, Ángeles, Cobos, Enrique Javier, Escames, Germaine, Acuña-Castroviejo, Dario, Quinzii, Catarina M, López, Luis Carlos
Publicado no EMBO Mol Med (2015)

CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome

Por Luna‐Sánchez, Marta, Hidalgo‐Gutiérrez, Agustín, Hildebrandt, Tatjana M, Chaves‐Serrano, Julio, Barriocanal‐Casado, Eliana, Santos‐Fandila, Ángela, Romero, Miguel, Sayed, Ramy KA, Duarte, Juan, Prokisch, Holger, Schuelke, Markus, Distelmaier, Felix, Escames, Germaine, Acuña‐Castroviejo, Darío, López, Luis C
Publicado no EMBO Mol Med (2016)

Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis

Por Lohman, Danielle C., Forouhar, Farhad, Beebe, Emily T., Stefely, Matthew S., Minogue, Catherine E., Ulbrich, Arne, Stefely, Jonathan A., Sukumar, Shravan, Luna-Sánchez, Marta, Jochem, Adam, Lew, Scott, Seetharaman, Jayaraman, Xiao, Rong, Wang, Huang, Westphall, Michael S., Wrobel, Russell L., Everett, John K., Mitchell, Julie C., López, Luis C., Coon, Joshua J., Tong, Liang, Pagliarini, David J.
Publicado no Proc Natl Acad Sci U S A (2014)