Redefining infantile-onset multisystem phenotypes of coenzyme Q(10)-deficiency in the next-generation sequencing era

por Berardo, Andres, Quinzii, Catarina M.
Publicado 2020

Abnormalities of hydrogen sulfide and glutathione pathways in mitochondrial dysfunction

por Quinzii, Catarina M, Lopez, Luis C
Publicado 2020

Human Coenzyme Q(10) Deficiency

por Quinzii, Catarina M., DiMauro, Salvatore, Hirano, Michio
Publicado 2006

Mechanisms and Therapeutic Effects of Benzoquinone Ring Analogs in Primary CoQ Deficiencies

por Pesini, Alba, Hidalgo-Gutierrez, Agustin, Quinzii, Catarina M.
Publicado 2022

Effects of Inhibiting CoQ(10) Biosynthesis with 4-nitrobenzoate in Human Fibroblasts

por Quinzii, Catarina M., Tadesse, Saba, Naini, Ali, Hirano, Michio
Publicado 2012

Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias

por Barca, Emanuele, Emmanuele, Valentina, DiMauro, Salvatore, Toscano, Antonio, Quinzii, Catarina M.
Publicado 2019

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 2017

Inhibition of HDAC1/2 Along with TRAP1 Causes Synthetic Lethality in Glioblastoma Model Systems

por Nguyen, Trang T. T., Zhang, Yiru, Shang, Enyuan, Shu, Chang, Quinzii, Catarina M., Westhoff, Mike-Andrew, Karpel-Massler, Georg, Siegelin, Markus D.
Publicado 2020

Treatment of CoQ(10) Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects

por López, Luis C., Quinzii, Catarina M., Area, Estela, Naini, Ali, Rahman, Shamima, Schuelke, Markus, Salviati, Leonardo, DiMauro, Salvatore, Hirano, Michio
Publicado 2010

Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ(10) deficiency

por Sondheimer, Neal, Hewson, Stacy, Cameron, Jessie M., Somers, Gino R., Broadbent, Jane Dunning, Ziosi, Marcello, Quinzii, Catarina Maria, Naini, Ali B.
Publicado 2017

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

por Garone, Caterina, Garcia-Diaz, Beatriz, Emmanuele, Valentina, Lopez, Luis C, Tadesse, Saba, Akman, Hasan O, Tanji, Kurenai, Quinzii, Catarina M, Hirano, Michio
Publicado 2014

Metabolic Targets of Coenzyme Q10 in Mitochondria

por Hidalgo-Gutiérrez, Agustín, González-García, Pilar, Díaz-Casado, María Elena, Barriocanal-Casado, Eliana, López-Herrador, Sergio, Quinzii, Catarina M., López, Luis C.
Publicado 2021

Mutant CHCHD10 causes an extensive metabolic rewiring that precedes OXPHOS dysfunction in a murine model of mitochondrial cardiomyopathy

por Sayles, Nicole M., Southwell, Nneka, McAvoy, Kevin, Kim, Kihwan, Pesini, Alba, Anderson, Corey J., Quinzii, Catarina, Cloonan, Suzanne, Kawamata, Hibiki, Manfredi, Giovanni
Publicado 2022

Inhibition of Bcl-2/Bcl-xL and c-MET causes synthetic lethality in model systems of glioblastoma

por Zhang, Yiru, Ishida, Chiaki Tsuge, Shu, Chang, Kleiner, Giulio, Sanchez-Quintero, Maria J., Bianchetti, Elena, Quinzii, Catarina M., Westhoff, Mike-Andrew, Karpel-Massler, Georg, Siegelin, Markus D.
Publicado 2018

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 2015

Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency

por Monfrini, Edoardo, Pesini, Alba, Biella, Fabio, Sobreira, Claudia F.R., Emmanuele, Valentina, Brescia, Gloria, Lopez, Luis Carlos, Tadesse, Saba, Hirano, Michio, Comi, Giacomo P., Quinzii, Catarina Maria, Di Fonzo, Alessio
Publicado 2023

ETMM-04. AURKA INHIBITION REPROGRAMS METABOLISM AND IS SYNTHETICALLY LETHAL WITH FATTY ACID OXIDATION INHIBITION IN GLIOBLASTOMA MODEL SYSTEMS

por Nguyen, Trang, Shu, Chang, Shang, Enyuan, Mela, Angeliki, Humala, Nelson, Mahajan, Aayushi, Akman, Hasan, Quinzii, Catarina, Zhang, Guoan, Westhof, Mike-Andrew, Karpel-Massler, Georg, Bruce, Jeffrey, Canoll, Peter, Siegelin, Markus
Publicado 2021

Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism

por González-García, Pilar, Hidalgo-Gutiérrez, Agustín, Mascaraque, Cristina, Barriocanal-Casado, Eliana, Bakkali, Mohammed, Ziosi, Marcello, Abdihankyzy, Ussipbek Botagoz, Sánchez-Hernández, Sabina, Escames, Germaine, Prokisch, Holger, Martín, Francisco, Quinzii, Catarina M, López, Luis C
Publicado 2020

Activation of LXRβ inhibits tumor respiration and is synthetically lethal with Bcl‐xL inhibition

por Nguyen, Trang Thi Thu, Ishida, Chiaki Tsuge, Shang, Enyuan, Shu, Chang, Torrini, Consuelo, Zhang, Yiru, Bianchetti, Elena, Sanchez‐Quintero, Maria J, Kleiner, Giulio, Quinzii, Catarina M, Westhoff, Mike‐Andrew, Karpel‐Massler, Georg, Canoll, Peter, Siegelin, Markus D
Publicado 2019

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway

por Ziosi, Marcello, Di Meo, Ivano, Kleiner, Giulio, Gao, Xing‐Huang, Barca, Emanuele, Sanchez‐Quintero, Maria J, Tadesse, Saba, Jiang, Hongfeng, Qiao, Changhong, Rodenburg, Richard J, Scalais, Emmanuel, Schuelke, Markus, Willard, Belinda, Hatzoglou, Maria, Tiranti, Valeria, Quinzii, Catarina M
Publicado 2016