Follow
Catarina Quinzii
Catarina Quinzii
Columbia University Medical Center
Verified email at columbia.edu
Title
Cited by
Cited by
Year
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations
LC López, M Schuelke, CM Quinzii, T Kanki, RJT Rodenburg, A Naini, ...
The American Journal of Human Genetics 79 (6), 1125-1129, 2006
4552006
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency
C Quinzii, A Naini, L Salviati, E Trevisson, P Navas, S DiMauro, M Hirano
The American Journal of Human Genetics 78 (2), 345-349, 2006
4022006
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
K Gempel, H Topaloglu, B Talim, P Schneiderat, BGH Schoser, VH Hans, ...
Brain 130 (8), 2037-2044, 2007
3722007
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency
C Lagier-Tourenne, M Tazir, LC López, CM Quinzii, M Assoum, N Drouot, ...
The American Journal of Human Genetics 82 (3), 661-672, 2008
3542008
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
C Kornblum, TJ Nicholls, TB Haack, S Schöler, V Peeva, K Danhauser, ...
Nature genetics 45 (2), 214-219, 2013
2682013
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review
V Emmanuele, LC López, A Berardo, A Naini, S Tadesse, B Wen, ...
Archives of neurology 69 (8), 978-983, 2012
2552012
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease
AJ Duncan, M Bitner-Glindzicz, B Meunier, H Costello, IP Hargreaves, ...
The American Journal of Human Genetics 84 (5), 558-566, 2009
2542009
Human Coenzyme Q10 Deficiency
CM Quinzii, S DiMauro, M Hirano
Neurochemical research 32, 723-727, 2007
2272007
Coenzyme Q and mitochondrial disease
CM Quinzii, M Hirano
Developmental disabilities research reviews 16 (2), 183-188, 2010
2242010
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition
L Salviati, S Sacconi, L Murer, G Zacchello, L Franceschini, AM Laverda, ...
Neurology 65 (4), 606-608, 2005
2242005
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
CM Quinzii, AG Kattah, A Naini, HO Akman, VK Mootha, S DiMauro, ...
Neurology 64 (3), 539-541, 2005
2072005
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency
CM Quinzii, LC López, RW Gilkerson, B Dorado, J Coku, AB Naini, ...
The FASEB Journal 24 (10), 3733, 2010
1932010
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency
CM Quinzii, LC López, J Von-Moltke, A Naini, S Krishna, M Schuelke, ...
The FASEB journal: official publication of the Federation of American …, 2008
1882008
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene
CL Karadimas, TH Vu, SA Holve, P Chronopoulou, C Quinzii, SD Johnsen, ...
The American Journal of Human Genetics 79 (3), 544-548, 2006
1882006
Emerging therapies for mitochondrial diseases
M Hirano, V Emmanuele, CM Quinzii
Essays in biochemistry 62 (3), 467-481, 2018
1762018
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis
JM López-Martín, L Salviati, E Trevisson, G Montini, S DiMauro, C Quinzii, ...
Human molecular genetics 16 (9), 1091-1097, 2007
1602007
POLG mutations and Alpers syndrome
G Davidzon, M Mancuso, S Ferraris, C Quinzii, M Hirano, HL Peters, ...
Annals of Neurology: Official Journal of the American Neurological …, 2005
1532005
HDAC inhibitors elicit metabolic reprogramming by targeting super-enhancers in glioblastoma models
TTT Nguyen, Y Zhang, E Shang, C Shu, C Torrini, J Zhao, E Bianchetti, ...
The Journal of clinical investigation 130 (7), 3699-3716, 2020
1452020
Supercompetitor status of Drosophila Myc cells requires p53 as a fitness sensor to reprogram metabolism and promote viability
C De La Cova, N Senoo-Matsuda, M Ziosi, DC Wu, P Bellosta, CM Quinzii, ...
Cell metabolism 19 (3), 470-483, 2014
1402014
Human CoQ_ {10} deficiencies
CM Quinzii, A Naini, S DiMauro, M Hirano
Biofactors 32 (1-4), 113-118, 2008
1402008
The system can't perform the operation now. Try again later.
Articles 1–20