PMC Articles for MedGen (Select 764872) - PMC

Select item 91901801.

Reduced electron transport chain complex I protein abundance and function in Mfn2-deficient myogenic progenitors lead to oxidative stress and mitochondria swelling

Nanjian Luo, Feng Yue, Zhihao Jia, Jingjuan Chen, Qing Deng, Yongju Zhao, Shihuan Kuang

FASEB J. Author manuscript; available in PMC 2022 Jun 13.

Published in final edited form as: FASEB J. 2021 Apr; 35(4): e21426. doi: 10.1096/fj.202002464R

PMCID:: PMC9190180

Article PDF–3.2M

Select item 84644932.

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

Article PDF–728K

Select item 74652473.

Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report

Adrián González-Quintana, Inés García-Consuegra, Amaya Belanger-Quintana, Pablo Serrano-Lorenzo, Alejandro Lucia, Alberto Blázquez, Jorge Docampo, Cristina Ugalde, María Morán, Joaquín Arenas, Miguel A. Martín

Genes (Basel) 2020 Aug; 11(8): 855. Published online 2020 Jul 26. doi: 10.3390/genes11080855

PMCID:: PMC7465247

Article PDF–1.7M

Select item 70789144.

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Charlotte L. Alston, Nicolai Kohlschmidt, Gina O'Grady, Leigh Waddell, Frances Evesson, Sandra B. T. Cooper, Christian Turner, Jennifer Duff, Ana Topf, Delia Yubero, Cristina Jou, Andrés Nascimento, Carlos Ortez, Angels García‐Cazorla, Claudia Gross, Maria O'Callaghan, Saikat Santra, Maryanne A. Preece, Michael Champion, Sergei Korenev, Efsthatia Chronopoulou, Majumdar Anirban, Germaine Pierre, Daniel McArthur, Kyle Thompson, Placido Navas, Antonia Ribes, Frederic Tort, Agatha Schlüter, Aurora Pujol, Raquel Montero, Georgia Sarquella, Hanns Lochmüller, Cecilia Jiménez‐Mallebrera, Robert W. Taylor, Rafael Artuch, Janbernd Kirschner, Sarah C. Grünert, Andreas Roos, Rita Horvath

J Inherit Metab Dis. 2020 Mar; 43(2): 297–308. Published online 2019 Aug 13. doi: 10.1002/jimd.12156

PMCID:: PMC7078914

Article PDF–2.2M

Select item 63925775.

Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review

Chuan Xu, Jiajun Chen, Yingyu Zhang, Jia Li

Medicine (Baltimore) 2018 May; 97(21): e10539. Published online 2018 May 25. doi: 10.1097/MD.0000000000010539

PMCID:: PMC6392577

Article PDF–824K

Select item 58480936.

STATINS ACCELERATE DISEASE PROGRESSION AND SHORTEN SURVIVAL IN SOD1^G93A MICE

XIAOWEI W. SU, WINT NANDAR, ELIZABETH B. NEELY, ZACHARY SIMMONS, JAMES R. CONNOR

Muscle Nerve. Author manuscript; available in PMC 2018 Mar 13.

Published in final edited form as: Muscle Nerve. 2016 Aug; 54(2): 284–291. Published online 2016 May 19. doi: 10.1002/mus.25048

PMCID:: PMC5848093

Article PDF–551K

Select item 53774127.

Doxorubicin inhibits muscle inflammation after eccentric exercise

Sheng‐Chih Huang, Jin‐Fu Wu, Suchada Saovieng, Wei‐Horng Chien, Ming‐Fen Hsu, Xiao‐Fei Li, Shin‐Da Lee, Chih‐Yang Huang, Chih‐Yang Huang, Chia‐Hua Kuo

J Cachexia Sarcopenia Muscle. 2017 Apr; 8(2): 277–284. Published online 2016 Oct 10. doi: 10.1002/jcsm.12148

PMCID:: PMC5377412

Article PDF–771K

Select item 52881328.

Barth syndrome: connecting cardiolipin to cardiomyopathy

Nikita Ikon, Robert O. Ryan

Lipids. Author manuscript; available in PMC 2018 Feb 1.

Published in final edited form as: Lipids. 2017 Feb; 52(2): 99–108. Published online 2017 Jan 9. doi: 10.1007/s11745-016-4229-7

PMCID:: PMC5288132

Article PDF–1.0M

Select item 49506739.

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

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

Clin Genet. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Clin Genet. 2016 Aug; 90(2): 156–160. Published online 2016 Feb 16. doi: 10.1111/cge.12742

PMCID:: PMC4950673

Article PDF–195K

Select item 475536410.

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q₁₀ content

Claudio Asencio, María A Rodríguez-Hernandez, Paz Briones, Julio Montoya, Ana Cortés, Sonia Emperador, Angela Gavilán, Eduardo Ruiz-Pesini, Dèlia Yubero, Raquel Montero, Mercedes Pineda, María M O'Callaghan, María Alcázar-Fabra, Leonardo Salviati, Rafael Artuch, Plácido Navas

Eur J Hum Genet. 2016 Mar; 24(3): 367–372. Published online 2015 May 27. doi: 10.1038/ejhg.2015.112

PMCID:: PMC4755364

Article PDF–956K

Select item 309674511.

CALORIE RESTRICTION MODIFIES UBIQUINONE AND COQ TRANSCRIPTS LEVELS IN MOUSE TISSUES

Cristina Parrado, Guillermo López-Lluch, Elisabet Rodríguez-Bies, Sara Santa-Cruz, Plácido Navas, Jon J. Ramsey, José M. Villalba

Free Radic Biol Med. Author manuscript; available in PMC 2012 Jun 15.

Published in final edited form as: Free Radic Biol Med. 2011 Jun 15; 50(12): 1728–1736. Published online 2011 Mar 27. doi: 10.1016/j.freeradbiomed.2011.03.024

PMCID:: PMC3096745

Article PDF–529K

Select item 38839412.

Effect of Coenzyme Q on Serum Levels of Creatine Phosphokinase in Preclinical Muscular Dystrophy

Karl Folkers, Ryo Nakamura, Gian Paolo Littarru, Hans Zellweger, John B. Brunkhorst, Coyle W. Williams, Jr., John H. Langston

Proc Natl Acad Sci U S A. 1974 May; 71(5): 2098–2102. doi: 10.1073/pnas.71.5.2098

PMCID:: PMC388394

Article PDF–941K

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