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Select item 108973141.

Brown adipose tissue CoQ deficiency activates the integrated stress response and FGF21-dependent mitohormesis

Ching-Fang Chang, Amanda L Gunawan, Irene Liparulo, Peter-James H Zushin, Kaitlyn Vitangcol, Greg A Timblin, Kaoru Saijo, Biao Wang, Güneş Parlakgül, Ana Paula Arruda, Andreas Stahl

EMBO J. 2024 Jan; 43(2): 168–195. Published online 2024 Jan 11. doi: 10.1038/s44318-023-00008-x

PMCID:: PMC10897314

Abstract Article PDF–5.6M

Select item 105456122.

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs

Adriana P Rebelo, Pedro J Tomaselli, Jessica Medina, Ying Wang, Maike F Dohrn, Eva Nyvltova, Matt C Danzi, Mark Garrett, Sean E Smith, Alan Pestronk, Chengcheng Li, Ariel Ruiz, Elizabeth Jacobs, Shawna M E Feely, Marcondes C França, Jr, Marcus V Gomes, Diogo F Santos, Surinder Kumar, David B Lombard, Mario Saporta, Siegfried Hekimi, Antoni Barrientos, Conrad Weihl, Michael E Shy, Wilson Marques, Stephan Zuchner

Brain. 2023 Oct; 146(10): 4191–4199. Published online 2023 May 12. doi: 10.1093/brain/awad158

PMCID:: PMC10545612

Abstract Article PDF–620K

Select item 103933943.

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy

Arnaud Jacquier, Julian Theuriet, Fanny Fontaine, Valentine Mosbach, Nicolas Lacoste, Shams Ribault, Valérie Risson, Julien Carras, Laurent Coudert, Thomas Simonet, Philippe Latour, Tanya Stojkovic, Juliette Piard, Anne Cosson, Gaëtan Lesca, Françoise Bouhour, Stéphane Allouche, Hélène Puccio, Antoine Pegat, Laurent Schaeffer

Brain. 2023 Aug; 146(8): 3470–3483. Published online 2022 Dec 1. doi: 10.1093/brain/awac453

PMCID:: PMC10393394

Abstract Article PDF–1.1M

Select item 100792994.

Evaluation of Coenzyme Q10 (CoQ10) Deficiency and Therapy in Mouse Models of Cardiomyopathy

Tian-Tian Pu, Wei Wu, Pei-Da Liang, Jin-Chan Du, Sheng-Li Han, Xiu-Ling Deng, Xiao-Jun Du

J Cardiovasc Pharmacol. 2023 Apr; 81(4): 259–269. Published online 2023 Jan 18. doi: 10.1097/FJC.0000000000001401

PMCID:: PMC10079299

Abstract Article PDF–1.4M

Select item 94821535.

Effects of CoQ10 Replacement Therapy on the Audiological Characteristics of Pediatric Patients with COQ6 Variants

Dong Woo Nam, Sang Soo Park, So Min Lee, Myung-Whan Suh, Moo Kyun Park, Jae-Jin Song, Byung Yoon Choi, Jun Ho Lee, Seung Ha Oh, Kyung Chul Moon, Yo Han Ahn, Hee Gyung Kang, Hae Il Cheong, Ji Hyun Kim, Sang-Yeon Lee

Biomed Res Int. 2022; 2022: 5250254. Published online 2022 Sep 9. doi: 10.1155/2022/5250254

PMCID:: PMC9482153

Abstract Article PDF–657K

Select item 94439486.

The efficacy of coenzyme Q₁₀ treatment in alleviating the symptoms of primary coenzyme Q₁₀ deficiency: A systematic review

Ying Wang, Siegfried Hekimi

J Cell Mol Med. 2022 Sep; 26(17): 4635–4644. Published online 2022 Aug 19. doi: 10.1111/jcmm.17488

PMCID:: PMC9443948

Abstract Article PDF–1.0M

Select item 90350007.

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

Paulina Bahena, Narsis Daftarian, Reza Maroofian, Paola Linares, Daniel Villalobos, Mehraban Mirrahimi, Aboulfazl Rad, Julia Doll, Michaela A. H. Hofrichter, Asuman Koparir, Tabea Röder, Seungbin Han, Hamideh Sabbaghi, Hamid Ahmadieh, Hassan Behboudi, Cristina Villanueva-Mendoza, Vianney Cortés-Gonzalez, Rocio Zamora-Ortiz, Susanne Kohl, Laura Kuehlewein, Hossein Darvish, Elham Alehabib, Maria de la Luz Arenas-Sordo, Fatemeh Suri, Barbara Vona, Thomas Haaf

Hum Genet. 2022; 141(3-4): 785–803. Published online 2021 Jun 20. doi: 10.1007/s00439-021-02303-1

PMCID:: PMC9035000

Abstract Article PDF–1.9M

Select item 89283628.

Coenzyme Q10 deficiency can be expected to compromise Sirt1 activity

James J DiNicolantonio, Mark F McCarty, James H O'Keefe

Open Heart. 2022; 9(1): e001927. Published online 2022 Mar 16. doi: 10.1136/openhrt-2021-001927

PMCID:: PMC8928362

Abstract Article PDF–359K

Select item 89144409.

Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy

Mahmoud Reza Ashrafi, Roya Haghighi, Reza Shervin Badv, Homa Ghabeli, Ali Reza Tavasoli, Elham Pourbakhtyaran, Zahra Rezaei, Nejat Mahdieh, Pouria Mohammadi, Morteza Heidari

J Mol Neurosci. 2022; 72(5): 1125–1132. Published online 2022 Mar 11. doi: 10.1007/s12031-022-01993-0

PMCID:: PMC8914440

Abstract Article PDF–1.7M

Select item 854329810.

Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2

Changrui Xiao, Esteban Astiazaran-Symonds, Shrabani Basu, Monisha Kisling, Fernando Scaglia, Kimberly A. Chapman, Yudong Wang, Jerry Vockley, Carlos R. Ferreira

Am J Med Genet A. Author manuscript; available in PMC 2021 Oct 25.

Published in final edited form as: Am J Med Genet A. 2020 Oct; 182(10): 2426–2431. Published online 2020 Aug 17. doi: 10.1002/ajmg.a.61786

PMCID:: PMC8543298

Abstract Article PDF–724K

Select item 850821911.

Cellular Models for Primary CoQ Deficiency Pathogenesis Study

Carlos Santos-Ocaña, María V. Cascajo, María Alcázar-Fabra, Carmine Staiano, Guillermo López-Lluch, Gloria Brea-Calvo, Plácido Navas

Int J Mol Sci. 2021 Oct; 22(19): 10211. Published online 2021 Sep 22. doi: 10.3390/ijms221910211

PMCID:: PMC8508219

Abstract Article PDF–1.2M

Select item 846449312.

Coenzyme Q nanodisks counteract the effect of statins on C2C12 myotubes

Anthony Moschetti, Ruben K. Dagda, Robert O. Ryan

Nanomedicine. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Nanomedicine. 2021 Oct; 37: 102439. Published online 2021 Jul 10. doi: 10.1016/j.nano.2021.102439

PMCID:: PMC8464493

Abstract Article PDF–728K

Select item 797517013.

Predominant Cerebellar Volume Loss as a Neuroradiologic Feature of Pediatric Respiratory Chain Defects

Fernando Scaglia, Lee-Jun C. Wong, Georgirene D. Vladutiu, Jill V. Hunter

AJNR Am J Neuroradiol. 2005 Aug; 26(7): 1675–1680.

Correction in:: AJNR Am J Neuroradiol. 2005 Sep; 26(8): 2165.

PMCID:: PMC7975170

Abstract Article PDF–173K

Select item 791972914.

Targeting a Braf/Mapk pathway rescues podocyte lipid peroxidation in CoQ-deficiency kidney disease

Eriene-Heidi Sidhom, Choah Kim, Maria Kost-Alimova, May Theng Ting, Keith Keller, Julian Avila-Pacheco, Andrew J.B. Watts, Katherine A. Vernon, Jamie L. Marshall, Estefanía Reyes-Bricio, Matthew Racette, Nicolas Wieder, Giulio Kleiner, Elizabeth J. Grinkevich, Fei Chen, Astrid Weins, Clary B. Clish, Jillian L. Shaw, Catarina M. Quinzii, Anna Greka

J Clin Invest. 2021 Mar 1; 131(5): e141380. Published online 2021 Mar 1. doi: 10.1172/JCI141380

PMCID:: PMC7919729

Abstract Article PDF–2.7M

Select item 781808315.

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

Francesca Nardecchia, Agnese De Giorgi, Flavia Palombo, Claudio Fiorini, Anna M. De Negri, Valerio Carelli, Leonardo Caporali, Vincenzo Leuzzi

Ann Clin Transl Neurol. 2021 Jan; 8(1): 247–251. Published online 2020 Dec 7. doi: 10.1002/acn3.51232

PMCID:: PMC7818083

Abstract Article PDF–679K

Select item 772431116.

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

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

Hum Mol Genet. 2020 Oct 1; 29(19): 3296–3311. Published online 2020 Sep 25. doi: 10.1093/hmg/ddaa214

PMCID:: PMC7724311

Abstract Article PDF–2.0M

Select item 766274417.

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

Aliaa H. Abdelhakim, Avinash V. Dharmadhikari, Sara D. Ragi, Jose Ronaldo Lima de Carvalho, Jr., Christine L. Xu, Amanda L. Thomas, Christie M. Buchovecky, Mahesh M. Mansukhani, Ali B. Naini, Jun Liao, Vaidehi Jobanputra, Irene H. Maumenee, Stephen H. Tsang

Orphanet J Rare Dis. 2020; 15: 320. Published online 2020 Nov 13. doi: 10.1186/s13023-020-01600-8

PMCID:: PMC7662744

Abstract Article PDF–1.7M

Select item 754959818.

Primary coenzyme Q10 deficiency due to COQ8A gene mutations

Linwei Zhang, Tetsuo Ashizawa, Dantao Peng

Mol Genet Genomic Med. 2020 Oct; 8(10): e1420. Published online 2020 Aug 2. doi: 10.1002/mgg3.1420

PMCID:: PMC7549598

Abstract Article PDF–1.0M

Select item 741255919.

Metabolism of the Flavonol Kaempferol in Kidney Cells Liberates the B-ring to Enter Coenzyme Q Biosynthesis

Lucía Fernández-del-Río, Eric Soubeyrand, Gilles J. Basset, Catherine F. Clarke

Molecules. 2020 Jul; 25(13): 2955. Published online 2020 Jun 27. doi: 10.3390/molecules25132955

PMCID:: PMC7412559

Abstract Article PDF–944K

Select item 681617420.

A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report

Xia Wu, Wenhong Wang, Yan Liu, Wenyu Chen, Linsheng Zhao

BMC Med Genet. 2019; 20: 165. Published online 2019 Oct 28. doi: 10.1186/s12881-019-0898-4

PMCID:: PMC6816174

Abstract Article PDF–1.9M

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