Heterogeneity of Coenzyme Q10Deficiency: Patient Study and Literature Review

Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations

López, L. C., Schuelke, M., Quinzii, C. M., Kanki, T., Rodenburg, R. J., Naini, A., DiMauro, S., & Hirano, M. (2006) · The American Journal of Human Genetics · doi:10.1086/510023 · Cited by 397 · see citing works

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Heeringa, S. F., Chernin, G., Chaki, M., Zhou, W., Sloan, A. J., Ji, Z., Xie, L. X., Salviati, L., Hurd, T. W., Vega-Warner, V., et al. (2011) · Journal of Clinical Investigation · doi:10.1172/jci45693 · Cited by 396 · see citing works

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy.

Ogasahara, S., Engel, A. G., Frens, D. B., & Mack, D. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.7.2379 · Cited by 365 · see citing works

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

Rötig, A., Appelkvist, E., Géromel, V., Chrétien, D., Kadhom, N., Edery, P., Bideau, M. L., Dallner, G., Münnich, A., Ernster, L., et al. (2000) · The Lancet · doi:10.1016/s0140-6736(00)02531-9 · Cited by 354 · see citing works

A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency

Quinzii, C. M., Naini, A., Salviati, L., Trevisson, E., Navas, P., DiMauro, S., & Hirano, M. (2006) · The American Journal of Human Genetics · doi:10.1086/500092 · Cited by 348 · see citing works

COQ2 Nephropathy

Diomedi‐Camassei, F., Giandomenico, S. D., Santorelli, F. M., Caridi, G., Piemonte, F., Montini, G., Ghiggeri, G. M., Murer, L., Barisoni, L. M. C., Pastore, A., et al. (2007) · Journal of the American Society of Nephrology · doi:10.1681/asn.2006080833 · Cited by 331 · see citing works

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

Lagier‐Tourenne, C., Tazir, M., López, L. C., Quinzii, C. M., Assoum, M., Drouot, N., Busso, C., Makri, S., Alipacha, L., Benhassine, T., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.024 · Cited by 323 · see citing works

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Gempel, K. E., Topaloğlu, H., Talim, B., Schneiderat, P., Schoser, B. G. H., Hans, V., Pálmafy, B., Kale, G., Tokatlı, A., Quinzii, C. M., et al. (2007) · Brain · doi:10.1093/brain/awm054 · Cited by 313 · see citing works

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

Mollet, J., Delahodde, A., Serre, V., Chrétien, D., Schlemmer, D., Lombès, A., Boddaert, N., Desguerre, I., de Lonlay, P., de Baulny, H. O., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.022 · Cited by 289 · see citing works

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

Mollet, J., Giurgea, I., Schlemmer, D., Dallner, G., Chrétien, D., Delahodde, A., Bacq, D., de Lonlay, P., Münnich, A., & Rötig, A. (2007) · Journal of Clinical Investigation · doi:10.1172/jci29089 · Cited by 254 · see citing works

Early Coenzyme Q10 Supplementation in Primary Coenzyme Q10 Deficiency

Montini, G., Malaventura, C., & Salviati, L. (2008) · New England Journal of Medicine · doi:10.1056/nejmc0800582 · Cited by 253 · see citing works

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

Musumeci, O., Naini, A., Slonim, A. E., Skavin, N., Hadjigeorgiou, G. L., Krawiecki, N., Weissman, B. M., Tsao, C., Mendell, J. R., Shanske, S., et al. (2001) · Neurology · doi:10.1212/wnl.56.7.849 · Cited by 252 · see citing works

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

Duncan, A. J., Bitner-Glindzicz, M. A. K., Meunier, B., Costello, H., Hargreaves, I. P., López, L. C., Hirano, M., Quinzii, C. M., Sadowski, M. I., Hardy, J., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.018 · Cited by 218 · see citing works

Cerebellar ataxia and coenzyme Q10 deficiency

Lamperti, C., Naini, A., Hirano, M., Vivo, D. C. D., Bertini, E., Servidei, S., Valeriani, M., Lynch, D. R., Banwell, B., Berg, M., et al. (2003) · Neurology · doi:10.1212/01.wnl.0000055089.39373.fc · Cited by 206 · see citing works

Mitochondrial encephalomyopathy with coenzyme Q 10 deficiency

Sobreira, C. F. D. R., Hirano, M., Shanske, S., Keller, R. K., Haller, R. G., Davidson, E., Santorelli, F. M., Miranda, A. F., Bonilla, E., Mojon, D. S., et al. (1997) · Neurology · doi:10.1212/wnl.48.5.1238 · Cited by 193 · see citing works

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

Quinzii, C. M., Kattah, A. G., Naini, A., Akman, H. O., Mootha, V. K., DiMauro, S., & Hirano, M. (2005) · Neurology · doi:10.1212/01.wnl.0000150588.75281.58 · Cited by 171 · see citing works

Coenzyme Q 10 reverses pathological phenotype and reduces apoptosis in familial CoQ 10 deficiency

Giovanni, S. D., Massimiliano Mirabella, A., Spinazzola, A., Crociani, P., Silvestri, G., Broccolini, A., Tonali, P., Mauro, S. D., & Servidei, S. (2001) · Neurology · doi:10.1212/wnl.57.3.515 · Cited by 160 · see citing works

Coenzyme Q– responsive Leigh's encephalopathy in two sisters

Maldergem, L. V., Trijbels, F. J. M., DiMauro, S., Sindelar, P. J., Musumeci, O., Janssen, A. J. M., Delberghe, X., Martin, J., & Gillerot, Y. (2002) · Annals of Neurology · doi:10.1002/ana.10371 · Cited by 142 · see citing works

A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency

Boitier, E., Degoul, F., Desguerre, I., Charpentier, C., François, D., Ponsot, G., Diry, M., Rustin, P., & Marsac, C. (1998) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(98)00006-9 · Cited by 127 · see citing works

Isolated Mitochondrial Myopathy Associated With Muscle Coenzyme Q10 Deficiency

Lalani, S. R., Vladutiu, G. D., Plunkett, K., Lotze, T. E., Adesina, A. M., & Scaglia, F. (2005) · Archives of Neurology · doi:10.1001/archneur.62.2.317 · Cited by 127 · see citing works

Neonatal presentation of coenzyme Q10 deficiency

Rahman, S., Hargreaves, I. P., Clayton, P. T., & Heales, S. (2001) · The Journal of Pediatrics · doi:10.1067/mpd.2001.117575 · Cited by 122 · see citing works

Coenzyme Q10 deficiency and isolated myopathy

Horváth, R., Schneiderat, P., Schoser, B. G. H., Gempel, K. E., Neuen-Jacob, E., Plöger, H., Müller‐Höcker, J., Pongratz, D. E., Naini, A., DiMauro, S., et al. (2006) · Neurology · doi:10.1212/01.wnl.0000194241.35115.7c · Cited by 115 · see citing works

Primary and secondary CoQ10 deficiencies in humans

Quinzii, C. M., & Hirano, M. (2011) · BioFactors · doi:10.1002/biof.155 · Cited by 111 · see citing works

Adult-onset cerebellar ataxia due to mutations inCABC1/ADCK3

Horváth, R., Czermin, B., Gulati, S., et al. (2011) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2011-301258 · Cited by 107 · see citing works

Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

Artuch, R., Brea‐Calvo, G., Briones, P., Aracil, A., Galván, M. F., Espinós, C., Corral, J., Volpini, V., Ribes, A., Andreu, A. L., et al. (2006) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2006.01.021 · Cited by 100 · see citing works

Progression despite replacement of a myopathic form of coenzyme Q 10 defect

Auré, K., Benoist, J., de Baulny, H. O., Romero, N. B., Rigal, O., & Lombès, A. (2004) · Neurology · doi:10.1212/01.wnl.0000134607.76780.b2 · Cited by 83 · see citing works

Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1

Ber, I. L., Dubourg, O., Benoist, J., Jardel, C., Mochel, F., Koenig, M., Brice, A., Lombès, A., & Dürr, A. (2007) · Neurology · doi:10.1212/01.wnl.0000252366.10731.43 · Cited by 76 · see citing works

Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency

Gironi, M., Lamperti, C., Nemni, R., Moggio, M. G., Comi, G. P., Guerini, F. R., Ferrante, P., Canal, N., Naini, A., Bresolin, N., et al. (2004) · Neurology · doi:10.1212/01.wnl.0000113719.67643.b7 · Cited by 75 · see citing works

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy

Gerards, M., van den Bosch, B. J. C., Calis, C., Schoonderwoerd, K., van Engelen, K., Tijssen, M. A. J., de Coo, I. F. M., van der Kooi, A. J., & Smeets, H. J. M. (2010) · Mitochondrion · doi:10.1016/j.mito.2010.05.008 · Cited by 75 · see citing works

Coenzyme Q10‐responsive ataxia: 2‐year‐treatment follow‐up

Pineda, M., Montero, R., Aracil, A., et al. (2010) · Movement Disorders · doi:10.1002/mds.23129 · Cited by 58 · see citing works

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency

Aeby, A., Sznajer, Y., Cavé, H., Rebuffat, E., Coster, R. V., Rigal, O., & Bogaert, P. V. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0612-0 · Cited by 49 · see citing works

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

Castellotti, B., Mariotti, C., Rimoldi, M., Fancellu, R., Plumari, M., Caimi, S., Uziel, G., Nardocci, N., Moroni, I., Zorzi, G. S., et al. (2011) · Neurogenetics · doi:10.1007/s10048-011-0281-x · Cited by 49 · see citing works

Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency

Leshinsky‐Silver, E., Levine, A., Nissenkorn, A., et al. (2003) · Molecular Genetics and Metabolism · doi:10.1016/s1096-7192(03)00097-0 · Cited by 42 · see citing works

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children

Terracciano, A., Renaldo, F., Zanni, G., et al. (2011) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2011.07.016 · Cited by 32 · see citing works

Ataxia With Oculomotor Apraxia Type 1 (AOA1): Clinical and Neuropsychological Features in 2 New Patients and Differential Diagnosis

D’Arrigo, S., Riva, D., Bulgheroni, S., et al. (2008) · Journal of Child Neurology · doi:10.1177/0883073808314959 · Cited by 22 · see citing works

Hypotonia and Infantile Spasms: A New Phenotype of Coenzyme Q10 Deficiency?

Huntsman, R. J., Lemire, E. G., & Dunham, C. P. (2009) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/s0317167100006429 · Cited by 3 · see citing works

Coenzyme Q10 Supplementation for the Reduction of Oxidative Stress: Clinical Implications in the Treatment of Chronic Diseases

Gutierrez-Mariscal, F. M., Arenas-de Larriva, A. P., Limia-Perez, L., Romero-Cabrera, J. L., Yubero-Serrano, E. M., & López-Miranda, J. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21217870 · Cited by 190 · see citing works

Disorders of Human Coenzyme Q10 Metabolism: An Overview

Hargreaves, I., Heaton, R. A., & Mantle, D. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21186695 · Cited by 182 · see citing works

Role of Coenzyme Q10 in Health and Disease: An Update on the Last 10 Years (2010–2020)

Cirilli, I., Damiani, E., Dludla, P. V., Hargreaves, I., Marcheggiani, F., Millichap, L. E., Orlando, P., Silvestri, S., & Tiano, L. (2021) · Antioxidants · doi:10.3390/antiox10081325 · Cited by 115 · see citing works

Diagnosis of mitochondrial myopathies

Milone, M., & Wong, L.-J. (2013) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2013.07.007 · Cited by 89 · see citing works

Secondary Coenzyme Q 10 Deficiencies in Oxidative Phosphorylation (OXPHOS) and Non-OXPHOS Disorders

Yubero, D., Montero, R., Martín, M. A., Montoya, J., Ribes, A., Grazina, M., Trevisson, E., Rodriguez-Aguilera, J. C., Hargreaves, I. P., Salviati, L., et al. (2016) · Mitochondrion · doi:10.1016/j.mito.2016.06.007 · Cited by 72 · see citing works

Systematic clinical approach for diagnosing upper limb tremor

Wardt, J. V. D., van der Stouwe, A. M. M., Dirkx, M., Elting, J. W. J., Post, B., Tijssen, M. A., & Helmich, R. C. (2020) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp-2019-322676 · Cited by 72 · see citing works

Trends in coenzyme Q10 research.

Nakamura, T. (1985) · Journal of Synthetic Organic Chemistry Japan · doi:10.5059/yukigoseikyokaishi.43.10 · Cited by 2 · see citing works

Coenzyme Q–dependent mitochondrial respiratory chain activity in granulosa cells is reduced with aging

Ben‐Meir, A., Yahalomi, S., Moshe, B.-D., Shufaro, Y., Reubinoff, B. E., & Saada, A. (2015) · Fertility and Sterility · doi:10.1016/j.fertnstert.2015.05.023 · Cited by 55 · see citing works

Vitamin K2 cannot substitute Coenzyme Q10 as electron carrier in the mitochondrial respiratory chain of mammalian cells

Cerqua, C., Casarin, A., Pierrel, F., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-43014-y · Cited by 27 · see citing works

Method for detecting CoQ10 incorporation in the mitochondrial respiratory chain supercomplex

Sugawara, K., Sato, S., Tanaka, Y., Nakamura, A., Fujisawa, A., Yamamoto, Y., & Kashiba, M. (2023) · Journal of Clinical Biochemistry and Nutrition · doi:10.3164/jcbn.22-137 · Cited by 4 · see citing works

P.5.012 Coenzyme Q and α-tocopherol in rat brain during aging and after long-term coenzyme Q and α-tocopherol containing nutrient supplementation

Каленикова, Е. И., Gorodetskaya, E. A., Murashev, A. N., et al. (2005) · European Neuropsychopharmacology · doi:10.1016/s0924-977x(05)80414-6