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Select item 63829021.

Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance

Nianwei Zhou, Lu Tang, Yingying Jiang, Shengmei Qin, Jie Cui, Yanan Wang, Wenqing Zhu, Weipeng Zhao, Cuizhen Pan, Xianhong Shu

Anatol J Cardiol. 2019 Jan; 21(1): 18–24. Published online 2018 Dec 18. doi: 10.14744/AnatolJCardiol.2018.53258

PMCID:: PMC6382902

Article PDF–1.7M

Select item 59522152.

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman

EBioMedicine. 2018 Apr; 30: 86–93. Published online 2018 Feb 24. doi: 10.1016/j.ebiom.2018.02.010

PMCID:: PMC5952215

Article PDF–1.8M

Select item 48441003.

Impaired Cellular Bioenergetics Causes Mitochondrial Calcium Handling Defects in MT-ND5 Mutant Cybrids

Matthew McKenzie, Michael R. Duchen

PLoS One. 2016; 11(4): e0154371. Published online 2016 Apr 25. doi: 10.1371/journal.pone.0154371

PMCID:: PMC4844100

Article PDF–768K

Select item 26324384.

Systematic Association Studies of Mitochondrial DNA Variations in Schizophrenia: Focus on the ND5 Gene

Mikhil N. Bamne, Michael E. Talkowski, Carlos T. Moraes, Stephen B. Manuck, Robert E. Ferrell, Kodavali V. Chowdari, Vishwajit L. Nimgaonkar

Schizophr Bull. 2008 May; 34(3): 458–465. Published online 2007 Sep 26. doi: 10.1093/schbul/sbm100

PMCID:: PMC2632438

Article PDF–242K

Select item 25980425.

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease

M J Blok, L Spruijt, I F M de Coo, K Schoonderwoerd, A Hendrickx, H J Smeets

J Med Genet. 2007 Apr; 44(4): e74. doi: 10.1136/jmg.2006.045716

PMCID:: PMC2598042

Article PDF–236K

Select item 22175906.

mtDNA nt13708A Variant Increases the Risk of Multiple Sclerosis

Xinhua Yu, Dirk Koczan, Anna-Maija Sulonen, Denis A. Akkad, Antje Kroner, Manuel Comabella, Gianna Costa, Daniela Corongiu, Robert Goertsches, Montserrat Camina-Tato, Hans-Juergen Thiesen, Harald I. Nyland, Sverre J. Mørk, Xavier Montalban, Peter Rieckmann, Maria G. Marrosu, Kjell-Morten Myhr, Joerg T. Epplen, Janna Saarela, Saleh M. Ibrahim

PLoS One. 2008; 3(2): e1530. Published online 2008 Feb 13. doi: 10.1371/journal.pone.0001530

PMCID:: PMC2217590

Article PDF–137K

Select item 95787977.

circMTND5 Participates in Renal Mitochondrial Injury and Fibrosis by Sponging MIR6812 in Lupus Nephritis

Junjun Luan, Congcong Jiao, Cong Ma, Yixiao Zhang, Xiangnan Hao, Guangyu Zhou, Jingqi Fu, Xingyu Qiu, Hongyu Li, Wei Yang, Gabor G. Illei, Jeffrey B. Kopp, Jingbo Pi, Hua Zhou

Oxid Med Cell Longev. 2022; 2022: 2769487. Published online 2022 Oct 11. doi: 10.1155/2022/2769487

PMCID:: PMC9578797

Article PDF–3.2M

Select item 82090148.

Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I

Franziska Nuber, Johannes Schimpf, Jean-Paul di Rago, Déborah Tribouillard-Tanvier, Vincent Procaccio, Marie-Laure Martin-Negrier, Aurélien Trimouille, Olivier Biner, Christoph von Ballmoos, Thorsten Friedrich

Sci Rep. 2021; 11: 12641. Published online 2021 Jun 16. doi: 10.1038/s41598-021-91631-3

PMCID:: PMC8209014

Article PDF–2.5M

Select item 43543489.

Mitochondrial genetic variants identified to be associated with posttraumatic stress disorder

A Flaquer, C Baumbach, K-H Ladwig, J Kriebel, M Waldenberger, H Grallert, J Baumert, T Meitinger, J Kruse, A Peters, R Emeny, K Strauch

Transl Psychiatry. 2015 Mar; 5(3): e524. Published online 2015 Mar 10. doi: 10.1038/tp.2015.18

PMCID:: PMC4354348

Article PDF–705K

Select item 325625810.

Mitochondrial DNA Mutations in Respiratory Complex-I in Never-Smoker Lung Cancer Patients Contribute to Lung Cancer Progression and associated with EGFR gene mutation

Santanu Dasgupta, Ethan Soudry, Nitai Mukhopadhyay, Chunbo Shao, John Yee, Stephan Lam, Wan Lam, Wei Zhang, Adi F Gazdar, Paul B Fisher, David Sidransky

J Cell Physiol. Author manuscript; available in PMC 2013 Jun 1.

Published in final edited form as: J Cell Physiol. 2012 Jun; 227(6): 2451–2460. doi: 10.1002/jcp.22980

PMCID:: PMC3256258

Article PDF–1.4M

Select item 266806711.

Mitochondrial DNA Haplogroups M7b1′2 and M8a Affect Clinical Expression of Leber Hereditary Optic Neuropathy in Chinese Families with the m.11778G→A Mutation

Yanli Ji, A-Mei Zhang, Xiaoyun Jia, Ya-Ping Zhang, Xueshan Xiao, Shiqiang Li, Xiangming Guo, Hans-Jürgen Bandelt, Qingjiong Zhang, Yong-Gang Yao

Am J Hum Genet. 2008 Dec 12; 83(6): 760–768. Published online 2008 Dec 5. doi: 10.1016/j.ajhg.2008.11.002

PMCID:: PMC2668067

Article PDF–348K

Select item 807615212.

Impact of Mitochondrial Genetic Variants in ND1, ND2, ND5, and ND6 Genes on Sperm Motility and Intracytoplasmic Sperm Injection (ICSI) Outcomes

Mohammad A. Al Smadi, Mohamad Eid Hammadeh, Erich Solomayer, Osamah Batiha, Mohammad M. Altalib, Mohammad Y. Jahmani, Mohammad A. Shboul, Bassam Nusair, Houda Amor

Reprod Sci. 2021 May; 28(5): 1540–1555. Published online 2021 Jan 21. doi: 10.1007/s43032-020-00449-3

PMCID:: PMC8076152

Article PDF–2.1M

Select item 265274613.

PGC-1α/β upregulation is associated with improved oxidative phosphorylation in cells harboring nonsense mtDNA mutations

Sarika Srivastava, John N. Barrett, Carlos T. Moraes

Hum Mol Genet. Author manuscript; available in PMC 2009 Mar 9.

Published in final edited form as: Hum Mol Genet. 2007 Apr 15; 16(8): 993–1005. Published online 2007 Mar 6. doi: 10.1093/hmg/ddm045

PMCID:: PMC2652746

Article PDF–1007K

Select item 276752214.

Mitochondrial DNA variant interactions modify breast cancer risk

Daniel Covarrubias, Ren-Kui Bai, Lee-Jun C. Wong, Suzanne M. Leal

J Hum Genet. Author manuscript; available in PMC 2009 Oct 27.

Published in final edited form as: J Hum Genet. 2008; 53(10): 924–928. Published online 2008 Aug 19. doi: 10.1007/s10038-008-0331-x

PMCID:: PMC2767522

Article PDF–334K

Select item 544960815.

FASTKD1 and FASTKD4 have opposite effects on expression of specific mitochondrial RNAs, depending upon their endonuclease-like RAP domain

Erik Boehm, Sofia Zaganelli, Kinsey Maundrell, Alexis A. Jourdain, Stéphane Thore, Jean-Claude Martinou

Nucleic Acids Res. 2017 Jun 2; 45(10): 6135–6146. Published online 2017 Mar 10. doi: 10.1093/nar/gkx164

PMCID:: PMC5449608

Article PDF–8.2M

Select item 422669616.

Nuclear and cytoplasmic p53 suppress cell invasion by inhibiting respiratory Complex-I activity via Bcl-2 family proteins

Eun Mi Kim, Jong Kuk Park, Sang-Gu Hwang, Wun-Jae Kim, Zheng-Gang Liu, Sang Won Kang, Hong-Duck Um

Oncotarget. 2014 Sep; 5(18): 8452–8465. Published online 2014 Aug 6. doi: 10.18632/oncotarget.2320

PMCID:: PMC4226696

Article PDF–3.3M

Select item 113374217.

Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin

Ingrid Bourges, Claire Ramus, Bénédicte Mousson de Camaret, Réjane Beugnot, Claire Remacle, Pierre Cardol, Götz Hofhaus, Jean-Paul Issartel

Biochem J. 2004 Nov 1; 383(Pt 3): 491–499. Prepublished online 2004 Jul 14. Published online 2004 Oct 26. doi: 10.1042/BJ20040256

PMCID:: PMC1133742

Article PDF–423K

Select item 330272918.

YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation

Lukas Stiburek, Jana Cesnekova, Olga Kostkova, Daniela Fornuskova, Kamila Vinsova, Laszlo Wenchich, Josef Houstek, Jiri Zeman

Mol Biol Cell. 2012 Mar 15; 23(6): 1010–1023. doi: 10.1091/mbc.E11-08-0674

PMCID:: PMC3302729

Article PDF–1.8M

Select item 106907819.

Genotyping Parkinson Disease-Associated Mitochondrial Polymorphisms

Yiguo Jiang, Tammy Ellis, Anne R Greenlee

Clin Med Res. 2004 May; 2(2): 99–106. doi: 10.3121/cmr.2.2.99

PMCID:: PMC1069078

Article PDF–357K

Select item 248132820.

RNA binding activity of the recessive parkinsonism protein DJ-1 supports involvement in multiple cellular pathways

Marcel P. van der Brug, Jeff Blackinton, Jayanth Chandran, Ling-Yang Hao, Ashish Lal, Krystyna Mazan-Mamczarz, Jennifer Martindale, Chengsong Xie, Rili Ahmad, Kelly J. Thomas, Alexandra Beilina, J. Raphael Gibbs, Jinhui Ding, Amanda J. Myers, Ming Zhan, Huaibin Cai, Nancy M. Bonini, Myriam Gorospe, Mark R. Cookson

Proc Natl Acad Sci U S A. 2008 Jul 22; 105(29): 10244–10249. Published online 2008 Jul 14. doi: 10.1073/pnas.0708518105

PMCID:: PMC2481328

Article PDF–811K

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