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Catarina Quinzii - Publications

Affiliations: 
Neurology Columbia University, New York, NY 
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39 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Corral-Sarasa J, Martínez-Gálvez JM, González-García P, Wendling O, Jiménez-Sánchez L, López-Herrador S, Quinzii CM, Díaz-Casado ME, López LC. 4-Hydroxybenzoic acid rescues multisystemic disease and perinatal lethality in a mouse model of mitochondrial disease. Cell Reports. 114148. PMID 38697100 DOI: 10.1016/j.celrep.2024.114148  0.31
2020 Berardo A, Quinzii CM. Redefining infantile-onset multisystem phenotypes of coenzyme Q-deficiency in the next-generation sequencing era. Journal of Translational Genetics and Genomics. 4: 22-35. PMID 33426503 DOI: 10.20517/jtgg.2020.02  0.361
2020 Griffiths KK, Wang A, Wang L, Tracey M, Kleiner G, Quinzii CM, Sun L, Yang G, Perez-Zoghbi JF, Licznerski P, Yang M, Jonas EA, Levy RJ. Inefficient thermogenic mitochondrial respiration due to futile proton leak in a mouse model of fragile X syndrome. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. PMID 32307754 DOI: 10.1096/Fj.202000283Rr  0.322
2019 Galosi S, Barca E, Carrozzo R, Schirinzi T, Quinzii CM, Lieto M, Vasco G, Zanni G, Di Nottia M, Galatolo D, Filla A, Bertini E, Santorelli FM, Leuzzi V, Haas R, et al. Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review. Parkinsonism & Related Disorders. 68: 8-16. PMID 31621627 DOI: 10.1016/j.parkreldis.2019.09.015  0.306
2019 Yu MH, Tsang MH, Lai S, Ho MS, Tse DML, Willis B, Kwong AK, Chou YY, Lin SP, Quinzii CM, Hwu WL, Chien YH, Kuo PL, Chan VC, Tsoi C, et al. Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese. Npj Genomic Medicine. 4: 18. PMID 31396399 DOI: 10.1038/s41525-019-0091-x  0.379
2018 Monzio Compagnoni G, Kleiner G, Bordoni A, Fortunato F, Ronchi D, Salani S, Guida M, Corti C, Pichler I, Bergamini C, Fato R, Pellecchia MT, Vallelunga A, Del Sorbo F, Elia A, ... ... Quinzii CM, et al. Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 1864: 3588-3597. PMID 30254015 DOI: 10.1016/j.bbadis.2018.09.018  0.31
2018 Arita JH, Barros MH, Ravagnani FG, Ziosi M, Sanches LR, Picosse FR, Lopes TO, de Carvalho Aguiar P, Macabelli CH, Chiaratti MR, Pedroso JL, Quinzii CM, Barsottini OGP, Ferreiro-Barros CC. Metabolic studies of a patient harbouring a novel S487L mutation in the catalytic subunit of AMPK. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 1864: 1896-1903. PMID 29526819 DOI: 10.1016/j.bbadis.2018.03.011  0.344
2017 Sondheimer N, Hewson S, Cameron JM, Somers GR, Broadbent JD, Ziosi M, Quinzii CM, Naini AB. Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ deficiency. Molecular Genetics and Metabolism Reports. 12: 23-27. PMID 28540186 DOI: 10.1016/J.Ymgmr.2017.05.001  0.396
2015 Garcia-Diaz B, Barca E, Balreira A, Lopez LC, Tadesse S, Krishna S, Naini A, Mariotti C, Castellotti B, Quinzii CM. Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway. Human Molecular Genetics. 24: 4516-29. PMID 25976310 DOI: 10.1093/hmg/ddv183  0.349
2015 Luna-Sánchez M, Díaz-Casado E, Barca E, Tejada MÁ, Montilla-García Á, Cobos EJ, Escames G, Acuña-Castroviejo D, Quinzii CM, López LC. The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene. Embo Molecular Medicine. 7: 670-87. PMID 25802402 DOI: 10.15252/emmm.201404632  0.365
2014 Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmüller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, ... Quinzii CM, et al. ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. Journal of Neurology. 261: 2192-8. PMID 25182700 DOI: 10.1007/s00415-014-7476-7  0.332
2014 López LC, Luna-Sánchez M, García-Corzo L, Quinzii CM, Hirano M. Pathomechanisms in coenzyme q10-deficient human fibroblasts. Molecular Syndromology. 5: 163-9. PMID 25126049 DOI: 10.1159/000360494  0.345
2014 Quinzii CM, Emmanuele V, Hirano M. Clinical presentations of coenzyme q10 deficiency syndrome. Molecular Syndromology. 5: 141-6. PMID 25126046 DOI: 10.1159/000360490  0.349
2014 de la Cova C, Senoo-Matsuda N, Ziosi M, Wu DC, Bellosta P, Quinzii CM, Johnston LA. Supercompetitor status of Drosophila Myc cells requires p53 as a fitness sensor to reprogram metabolism and promote viability. Cell Metabolism. 19: 470-83. PMID 24561262 DOI: 10.1016/J.Cmet.2014.01.012  0.433
2012 Garcia-Diaz B, Barros MH, Sanna-Cherchi S, Emmanuele V, Akman HO, Ferreiro-Barros CC, Horvath R, Tadesse S, El Gharaby N, DiMauro S, De Vivo DC, Shokr A, Hirano M, Quinzii CM. Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. American Journal of Human Genetics. 91: 729-36. PMID 23022099 DOI: 10.1016/j.ajhg.2012.08.019  0.334
2012 Emmanuele V, López LC, López L, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M. Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. Archives of Neurology. 69: 978-83. PMID 22490322 DOI: 10.1001/Archneurol.2012.206  0.437
2012 Salviati L, Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, Doimo M, Cassina M, Agosto C, Desbats MA, Sartori G, Sacconi S, Memo L, Zuffardi O, Artuch R, Quinzii C, et al. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. Journal of Medical Genetics. 49: 187-91. PMID 22368301 DOI: 10.1136/Jmedgenet-2011-100394  0.341
2012 Quinzii CM, Tadesse S, Naini A, Hirano M. Effects of inhibiting CoQ 10 biosynthesis with 4-nitrobenzoate in human fibroblasts Plos One. 7. PMID 22359546 DOI: 10.1371/journal.pone.0030606  0.302
2012 Quinzii C, Barros M, Sanna-Cherchi S, Emmanuele V, Lopez Garcia B, Akman A, Horvath R, Ferreiro-Barros C, El Gharably N, De Vivo D, Shokr A, Hirano M. Severe Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Due to a New Molecular Defect (IN7-1.003) Neurology. 78: IN7-1.003-IN7-1.003. DOI: 10.1212/Wnl.78.1_Meetingabstracts.In7-1.003  0.381
2011 Quinzii CM, Hirano M. Primary and secondary CoQ(10) deficiencies in humans. Biofactors (Oxford, England). 37: 361-5. PMID 21990098 DOI: 10.1002/biof.155  0.371
2010 Quinzii CM, Hirano M. Coenzyme Q and mitochondrial disease. Developmental Disabilities Research Reviews. 16: 183-8. PMID 20818733 DOI: 10.1002/ddrr.108  0.399
2009 Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, López LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. American Journal of Human Genetics. 84: 558-66. PMID 19375058 DOI: 10.1016/J.Ajhg.2009.03.018  0.363
2009 Quinzii CM, López LC, Naini A, DiMauro S, Hirano M. Human CoQ10 deficiencies. Biofactors (Oxford, England). 32: 113-8. PMID 19096106 DOI: 10.1002/BIOF.5520320113  0.403
2008 Ferreiro-Barros CC, Tengan CH, Barros MH, Palenzuela L, Kanki C, Quinzii C, Lou J, El Gharaby N, Shokr A, De Vivo DC, DiMauro S, Hirano M. Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis. Journal of the Neurological Sciences. 275: 128-32. PMID 18835491 DOI: 10.1016/J.Jns.2008.08.028  0.386
2008 Casarin A, Jimenez-Ortega JC, Trevisson E, Pertegato V, Doimo M, Ferrero-Gomez ML, Abbadi S, Artuch R, Quinzii C, Hirano M, Basso G, Ocaña CS, Navas P, Salviati L. Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis. Biochemical and Biophysical Research Communications. 372: 35-9. PMID 18474229 DOI: 10.1016/J.Bbrc.2008.04.172  0.357
2008 Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, et al. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. American Journal of Human Genetics. 82: 661-72. PMID 18319074 DOI: 10.1016/J.Ajhg.2007.12.024  0.364
2007 Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, Hans VH, Pálmafy B, Kale G, Tokatli A, Quinzii C, Hirano M, Naini A, DiMauro S, Prokisch H, Lochmüller H, et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain : a Journal of Neurology. 130: 2037-44. PMID 17412732 DOI: 10.1093/Brain/Awm054  0.444
2007 López-Martín JM, Salviati L, Trevisson E, Montini G, DiMauro S, Quinzii C, Hirano M, Rodriguez-Hernandez A, Cordero MD, Sánchez-Alcázar JA, Santos-Ocaña C, Navas P. Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. Human Molecular Genetics. 16: 1091-7. PMID 17374725 DOI: 10.1093/Hmg/Ddm058  0.451
2007 DiMauro S, Quinzii CM, Hirano M. Mutations in coenzyme Q10 biosynthetic genes. The Journal of Clinical Investigation. 117: 587-9. PMID 17332886 DOI: 10.1172/JCI31423  0.34
2007 Quinzii CM, DiMauro S, Hirano M. Human coenzyme Q10 deficiency. Neurochemical Research. 32: 723-7. PMID 17094036 DOI: 10.1007/s11064-006-9190-z  0.32
2007 Quinzii C, Garcia LL, Naini A, Mauro SD, Hirano M. M.P.3.05 CoQ10 deficiency: Clinical and genetic studies Neuromuscular Disorders. 17: 828. DOI: 10.1016/J.Nmd.2007.06.227  0.312
2007 Topaloglu H, Gempel K, Talim B, Schneiderat P, Schoser B, Volkmar H, Kale G, Tokatli A, Quinzii C, Hirano M, Naini A, Mauro SD, Prokisch H, Lochmüller HH, Horvath R. M.P.3.03 Treatment of myopathic form of coenzyme Q10 deficiency caused by electron-transferring-flavoprotein dehydrogenase (ETFDH) gene mutations Neuromuscular Disorders. 17: 827-828. DOI: 10.1016/J.Nmd.2007.06.225  0.396
2007 Topaloglu H, Gempel K, Talim B, Schneiderat P, Schoser B, Volkmar H, Kale G, Tokatli A, Quinzii C, Hirano M, Naini A, Mauro SD, Prokisch H, Lochmüller H, Horvath R. M.O.2 Mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene cause myopathic form of coenzyme Q10 deficiency Neuromuscular Disorders. 17: 766. DOI: 10.1016/J.Nmd.2007.06.021  0.368
2006 López LC, Schuelke M, Quinzii CM, Kanki T, Rodenburg RJ, Naini A, Dimauro S, Hirano M. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. American Journal of Human Genetics. 79: 1125-9. PMID 17186472 DOI: 10.1086/510023  0.379
2006 Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, Kurth J, Eggers E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. American Journal of Human Genetics. 79: 544-8. PMID 16909392 DOI: 10.1086/506913  0.429
2006 Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. American Journal of Human Genetics. 78: 345-9. PMID 16400613 DOI: 10.1086/500092  0.449
2005 Salviati L, Sacconi S, Murer L, Zacchello G, Franceschini L, Laverda AM, Basso G, Quinzii C, Angelini C, Hirano M, Naini AB, Navas P, DiMauro S, Montini G. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition Neurology. 65: 606-608. PMID 16116126 DOI: 10.1212/01.Wnl.0000172859.55579.A7  0.358
2005 Davidzon G, Mancuso M, Ferraris S, Quinzii C, Hirano M, Peters HL, Kirby D, Thorburn DR, DiMauro S. POLG mutations and Alpers syndrome. Annals of Neurology. 57: 921-3. PMID 15929042 DOI: 10.1002/Ana.20498  0.407
2005 Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, DiMauro S, Hirano M. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology. 64: 539-41. PMID 15699391 DOI: 10.1212/01.WNL.0000150588.75281.58  0.397
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