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Items: 1 to 50 of 70

1.

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.

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, Hirano M, Friedman J.

Parkinsonism Relat Disord. 2019 Sep 28;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. [Epub ahead of print] Review.

PMID:
31621627
2.

Growth differentiation factor-15 as a biomarker of strength and recovery in survivors of acute respiratory failure.

Rosenberg BJ, Hirano M, Quinzii CM, Colantuoni E, Needham DM, Lederer DJ, Baldwin MR.

Thorax. 2019 Nov;74(11):1099-1101. doi: 10.1136/thoraxjnl-2019-213621. Epub 2019 Sep 18.

PMID:
31534031
3.

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

Nguyen TTT, Ishida CT, Shang E, Shu C, Torrini C, Zhang Y, Bianchetti E, Sanchez-Quintero MJ, Kleiner G, Quinzii CM, Westhoff MA, Karpel-Massler G, Canoll P, Siegelin MD.

EMBO Mol Med. 2019 Oct;11(10):e10769. doi: 10.15252/emmm.201910769. Epub 2019 Aug 29.

4.

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.

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, Chong SC, Rodenburg RJT, Smeitink J, Mak CC, Yeung KS, Fung JL, Lam W, Hui J, Lee NC, Fung CW, Chung BH.

NPJ Genom Med. 2019 Aug 5;4:18. doi: 10.1038/s41525-019-0091-x. eCollection 2019.

5.

A metabolic perspective on CSF-mediated neurodegeneration in multiple sclerosis.

Wentling M, Lopez-Gomez C, Park HJ, Amatruda M, Ntranos A, Aramini J, Petracca M, Rusielewicz T, Chen E, Tolstikov V, Kiebish M, Fossati V, Inglese M, Quinzii CM, Katz Sand I, Casaccia P.

Brain. 2019 Sep 1;142(9):2756-2774. doi: 10.1093/brain/awz201.

PMID:
31305892
6.

Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy.

Monzio Compagnoni G, Kleiner G, Samarani M, Aureli M, Faustini G, Bellucci A, Ronchi D, Bordoni A, Garbellini M, Salani S, Fortunato F, Frattini E, Abati E, Bergamini C, Fato R, Tabano S, Miozzo M, Serratto G, Passafaro M, Deleidi M, Silipigni R, Nizzardo M, Bresolin N, Comi GP, Corti S, Quinzii CM, Di Fonzo A.

Stem Cell Reports. 2018 Nov 13;11(5):1185-1198. doi: 10.1016/j.stemcr.2018.09.007. Epub 2018 Oct 18.

7.

Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice.

Kubota A, Juanola-Falgarona M, Emmanuele V, Sanchez-Quintero MJ, Kariya S, Sera F, Homma S, Tanji K, Quinzii CM, Hirano M.

Hum Mol Genet. 2019 Jan 15;28(2):209-219. doi: 10.1093/hmg/ddy299.

PMID:
30260394
8.

Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy.

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, Reale C, Garavaglia B, Mora G, Albanese A, Cogiamanian F, Ardolino G, Bresolin N, Corti S, Comi GP, Quinzii CM, Di Fonzo A.

Biochim Biophys Acta Mol Basis Dis. 2018 Dec;1864(12):3588-3597. doi: 10.1016/j.bbadis.2018.09.018. Epub 2018 Sep 19.

PMID:
30254015
9.

CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway.

Kleiner G, Barca E, Ziosi M, Emmanuele V, Xu Y, Hidalgo-Gutierrez A, Qiao C, Tadesse S, Area-Gomez E, Lopez LC, Quinzii CM.

Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3708-3722. doi: 10.1016/j.bbadis.2018.09.002. Epub 2018 Sep 6.

10.

Metabolic Reprogramming by Dual AKT/ERK Inhibition through Imipridones Elicits Unique Vulnerabilities in Glioblastoma.

Ishida CT, Zhang Y, Bianchetti E, Shu C, Nguyen TTT, Kleiner G, Sanchez-Quintero MJ, Quinzii CM, Westhoff MA, Karpel-Massler G, Prabhu VV, Allen JE, Siegelin MD.

Clin Cancer Res. 2018 Nov 1;24(21):5392-5406. doi: 10.1158/1078-0432.CCR-18-1040. Epub 2018 Jul 23.

PMID:
30037819
11.

Emerging therapies for mitochondrial diseases.

Hirano M, Emmanuele V, Quinzii CM.

Essays Biochem. 2018 Jul 20;62(3):467-481. doi: 10.1042/EBC20170114. Print 2018 Jul 20. Review.

12.

Combined HDAC and Bromodomain Protein Inhibition Reprograms Tumor Cell Metabolism and Elicits Synthetic Lethality in Glioblastoma.

Zhang Y, Ishida CT, Ishida W, Lo SL, Zhao J, Shu C, Bianchetti E, Kleiner G, Sanchez-Quintero MJ, Quinzii CM, Westhoff MA, Karpel-Massler G, Canoll P, Siegelin MD.

Clin Cancer Res. 2018 Aug 15;24(16):3941-3954. doi: 10.1158/1078-0432.CCR-18-0260. Epub 2018 May 15.

13.

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

Zhang Y, Ishida CT, Shu C, Kleiner G, Sanchez-Quintero MJ, Bianchetti E, Quinzii CM, Westhoff MA, Karpel-Massler G, Siegelin MD.

Sci Rep. 2018 May 9;8(1):7373. doi: 10.1038/s41598-018-25802-0.

14.

Metabolic studies of a patient harbouring a novel S487L mutation in the catalytic subunit of AMPK.

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.

Biochim Biophys Acta Mol Basis Dis. 2018 May;1864(5 Pt A):1896-1903. doi: 10.1016/j.bbadis.2018.03.011. Epub 2018 Mar 8.

15.

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

Barca E, Emmanuele V, DiMauro S, Toscano A, Quinzii CM.

Curr Neuropharmacol. 2019;17(1):21-32. doi: 10.2174/1570159X15666171109125643. Review.

16.

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

Quinzii CM, Luna-Sanchez M, Ziosi M, Hidalgo-Gutierrez A, Kleiner G, Lopez LC.

Front Physiol. 2017 Jul 25;8:525. doi: 10.3389/fphys.2017.00525. eCollection 2017. Review.

17.

Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.

Sondheimer N, Hewson S, Cameron JM, Somers GR, Broadbent JD, Ziosi M, Quinzii CM, Naini AB.

Mol Genet Metab Rep. 2017 May 11;12:23-27. doi: 10.1016/j.ymgmr.2017.05.001. eCollection 2017 Sep.

18.

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

Ziosi M, Di Meo I, Kleiner G, Gao XH, Barca E, Sanchez-Quintero MJ, Tadesse S, Jiang H, Qiao C, Rodenburg RJ, Scalais E, Schuelke M, Willard B, Hatzoglou M, Tiranti V, Quinzii CM.

EMBO Mol Med. 2017 Jan;9(1):96-111. doi: 10.15252/emmm.201606356.

19.

A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.

Garone C, Gurgel-Giannetti J, Sanna-Cherchi S, Krishna S, Naini A, Quinzii CM, Hirano M.

J Child Neurol. 2017 Feb;32(2):246-250. doi: 10.1177/0883073816666221. Epub 2016 Sep 28.

PMID:
27651038
20.

Coenzyme Q10 as a Peripheral Biomarker for Multiple System Atrophy.

Kuo SH, Quinzii CM.

JAMA Neurol. 2016 Aug 1;73(8):917-9. doi: 10.1001/jamaneurol.2016.1810. No abstract available.

21.

Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum.

Barca E, Kleiner G, Tang G, Ziosi M, Tadesse S, Masliah E, Louis ED, Faust P, Kang UJ, Torres J, Cortes EP, Vonsattel JP, Kuo SH, Quinzii CM.

J Neuropathol Exp Neurol. 2016 Jul;75(7):663-72. doi: 10.1093/jnen/nlw037. Epub 2016 May 27.

22.

Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.

Barca E, Musumeci O, Montagnese F, Marino S, Granata F, Nunnari D, Peverelli L, DiMauro S, Quinzii CM, Toscano A.

Clin Genet. 2016 Aug;90(2):156-60. doi: 10.1111/cge.12742. Epub 2016 Feb 16.

23.

CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.

Barca E, Tang M, Kleiner G, Engelstad K, DiMauro S, Quinzii CM, De Vivo DC.

JIMD Rep. 2016;29:47-52. Epub 2015 Nov 29.

24.

Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.

Garcia-Diaz B, Barca E, Balreira A, Lopez LC, Tadesse S, Krishna S, Naini A, Mariotti C, Castellotti B, Quinzii CM.

Hum Mol Genet. 2015 Aug 15;24(16):4516-29. doi: 10.1093/hmg/ddv183. Epub 2015 May 14.

25.

The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene.

Luna-Sánchez M, Díaz-Casado E, Barca E, Tejada MÁ, Montilla-García Á, Cobos EJ, Escames G, Acuña-Castroviejo D, Quinzii CM, López LC.

EMBO Mol Med. 2015 May;7(5):670-87. doi: 10.15252/emmm.201404632.

26.

Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

Emmanuele V, Kubota A, Garcia-Diaz B, Garone C, Akman HO, Sánchez-Gutiérrez D, Escudero LM, Kariya S, Homma S, Tanji K, Quinzii CM, Hirano M.

Hum Mol Genet. 2015 Feb 1;24(3):714-26. doi: 10.1093/hmg/ddu490. Epub 2014 Sep 30.

27.

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.

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, Horvath R.

J Neurol. 2014 Nov;261(11):2192-8. doi: 10.1007/s00415-014-7476-7. Epub 2014 Sep 3.

28.

Pathomechanisms in coenzyme q10-deficient human fibroblasts.

López LC, Luna-Sánchez M, García-Corzo L, Quinzii CM, Hirano M.

Mol Syndromol. 2014 Jul;5(3-4):163-9. doi: 10.1159/000360494.

29.

Clinical presentations of coenzyme q10 deficiency syndrome.

Quinzii CM, Emmanuele V, Hirano M.

Mol Syndromol. 2014 Jul;5(3-4):141-6. doi: 10.1159/000360490.

30.

Mutant COQ2 in multiple-system atrophy.

Quinzii CM, Hirano M, DiMauro S.

N Engl J Med. 2014 Jul 3;371(1):81-2. doi: 10.1056/NEJMc1311763. No abstract available.

31.

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.

Garone C, Garcia-Diaz B, Emmanuele V, Lopez LC, Tadesse S, Akman HO, Tanji K, Quinzii CM, Hirano M.

EMBO Mol Med. 2014 Aug;6(8):1016-27. doi: 10.15252/emmm.201404092.

32.

Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

Goldman JS, Quinzii C, Dunning-Broadbent J, Waters C, Mitsumoto H, Brannagan TH 3rd, Cosentino S, Huey ED, Nagy P, Kuo SH.

JAMA Neurol. 2014 Jun;71(6):771-4. doi: 10.1001/jamaneurol.2013.5762.

33.

Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy.

Garcia-Diaz B, Garone C, Barca E, Mojahed H, Gutierrez P, Pizzorno G, Tanji K, Arias-Mendoza F, Quinzii CM, Hirano M.

Brain. 2014 May;137(Pt 5):1337-49. doi: 10.1093/brain/awu068. Epub 2014 Apr 10.

34.

High-mobility group box 1 is dispensable for autophagy, mitochondrial quality control, and organ function in vivo.

Huebener P, Gwak GY, Pradere JP, Quinzii CM, Friedman R, Lin CS, Trent CM, Mederacke I, Zhao E, Dapito DH, Lin Y, Goldberg IJ, Czaja MJ, Schwabe RF.

Cell Metab. 2014 Mar 4;19(3):539-47. doi: 10.1016/j.cmet.2014.01.014.

35.

Supercompetitor status of Drosophila Myc cells requires p53 as a fitness sensor to reprogram metabolism and promote viability.

de la Cova C, Senoo-Matsuda N, Ziosi M, Wu DC, Bellosta P, Quinzii CM, Johnston LA.

Cell Metab. 2014 Mar 4;19(3):470-83. doi: 10.1016/j.cmet.2014.01.012. Epub 2014 Feb 20.

36.

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.

Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H.

Nat Genet. 2013 Feb;45(2):214-9. doi: 10.1038/ng.2501. Epub 2013 Jan 13.

37.

Cerebellar Ataxia and CoQ10 Deficiency.

Quinzii CM, Hirano M, Naini A.

J Neurol Disord Stroke. 2013;1(1):1004. No abstract available.

38.

Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.

Quinzii CM, Garone C, Emmanuele V, Tadesse S, Krishna S, Dorado B, Hirano M.

FASEB J. 2013 Feb;27(2):612-21. doi: 10.1096/fj.12-209361. Epub 2012 Nov 12.

39.

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

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.

Am J Hum Genet. 2012 Oct 5;91(4):729-36. doi: 10.1016/j.ajhg.2012.08.019. Epub 2012 Sep 27.

40.

Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.

Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M.

Arch Neurol. 2012 Aug;69(8):978-83. doi: 10.1001/archneurol.2012.206. Review. Erratum in: Arch Neurol. 2012 Jul;69(7):886. López, Luis [corrected to López, Luis C].

41.

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

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, Dimauro S, Hirano M, Santos-Ocaña C, Navas P.

J Med Genet. 2012 Mar;49(3):187-91. doi: 10.1136/jmedgenet-2011-100394.

42.

Effects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts.

Quinzii CM, Tadesse S, Naini A, Hirano M.

PLoS One. 2012;7(2):e30606. doi: 10.1371/journal.pone.0030606. Epub 2012 Feb 16.

43.

CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

Hirano M, Garone C, Quinzii CM.

Biochim Biophys Acta. 2012 May;1820(5):625-31. doi: 10.1016/j.bbagen.2012.01.006. Epub 2012 Jan 18. Review.

44.

Primary and secondary CoQ(10) deficiencies in humans.

Quinzii CM, Hirano M.

Biofactors. 2011 Sep-Oct;37(5):361-5. doi: 10.1002/biof.155. Epub 2011 Oct 11. Review.

45.

Senataxin mutations and amyotrophic lateral sclerosis.

Hirano M, Quinzii CM, Mitsumoto H, Hays AP, Roberts JK, Richard P, Rowland LP.

Amyotroph Lateral Scler. 2011 May;12(3):223-7. doi: 10.3109/17482968.2010.545952. Epub 2010 Dec 29.

PMID:
21190393
46.

Coenzyme Q and mitochondrial disease.

Quinzii CM, Hirano M.

Dev Disabil Res Rev. 2010;16(2):183-8. doi: 10.1002/ddrr.108. Review.

47.

Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects.

López LC, Quinzii CM, Area E, Naini A, Rahman S, Schuelke M, Salviati L, Dimauro S, Hirano M.

PLoS One. 2010 Jul 30;5(7):e11897. doi: 10.1371/journal.pone.0011897.

48.

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.

Quinzii CM, López LC, Gilkerson RW, Dorado B, Coku J, Naini AB, Lagier-Tourenne C, Schuelke M, Salviati L, Carrozzo R, Santorelli F, Rahman S, Tazir M, Koenig M, DiMauro S, Hirano M.

FASEB J. 2010 Oct;24(10):3733-43. doi: 10.1096/fj.09-152728. Epub 2010 May 21.

49.

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.

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.

Am J Hum Genet. 2009 May;84(5):558-66. doi: 10.1016/j.ajhg.2009.03.018. Epub 2009 Apr 16.

50.

Human CoQ10 deficiencies.

Quinzii CM, López LC, Naini A, DiMauro S, Hirano M.

Biofactors. 2008;32(1-4):113-8.

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