Human mitochondrial DNA: roles of inherited and somatic mutations
Open accessAbstract
Mutations in the human mitochondrial genome are known to cause an array of diverse disorders, most of which are maternally inherited, and all of which are associated with defects in oxidative energy metabolism. It is now emerging that somatic mutations in mitochondrial DNA (mtDNA) are also linked to other complex traits, including neurodegenerative diseases, ageing and cancer. Here we discuss insights into the roles of mtDNA mutations in a wide variety of diseases, highlighting the interesting genetic characteristics of the mitochondrial genome and challenges in studying its contribution to pathogenesis.
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Mitochondrial haplogroups carrying pathogenic SNPs can contribute to metabolic, late-onset neurodegenerative and autoimmune diseases.
“MtDNA haplogroups with pathogenic SNPs can contribute to metabolic, late-onset neurodegenerative diseases and autoimmune diseases through various mechanisms32,33”
From The role of mitochondria in rheumatic diseases (2022) · cites this paper as [32]
The 'Mitochondrial haplotypes as modifiers' section says pathogenic mtDNA mutations can cause diabetes and describes a haplogroup modifying the effects of an optic-neuropathy mutation. But 'Susceptibility to complex disorders' calls links between haplogroups and metabolic or neurodegenerative disorders highly controversial and concludes that the evidence is too weak to establish a contribution. The paper mentions an autoimmune response to mitochondrial dysfunction, not autoimmune disease caused by haplogroups carrying pathogenic SNPs. (LLM, conf=0.88)
Experimental — accuracy not yet measuredMitochondrial mutations are increasingly implicated in mitochondrial malfunction during aging.
“The mitochondrial genome has a high mutation rate, and mitochondrial mutations are increasingly implicated in mitochondrial malfunction during aging(Schon et al., 2012; Sevini et al., 2014).”
From Programmed cell death in aging (2015) · cites this paper as Schon et al., 2012
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Sequence and organization of the human mitochondrial genome
Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., et al. (1981) · Nature · doi:10.1038/290457a0 · Cited by 9,640 · see citing works
The metabolism of tumors in the body
Warburg, O., Wind, F., & Negelein, E. (1927) · Journal of General Physiology · doi:10.1085/jgp.8.6.519 · Cited by 4,416 · see citing works
Mitochondrial DNA and human evolution
Cann, R. L., Stoneking, M., & Wilson, A. C. (1987) · Nature · doi:10.1038/325031a0 · Cited by 3,100 · see citing works
Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-α prolyl hydroxylase
Selak, M. A., Armour, S. M., MacKenzie, E. D., Boulahbel, H., Watson, D. G., Mansfield, K. D., Pan, Y., Simon, M. C., Thompson, C. B., & Gottlieb, E. (2005) · Cancer Cell · doi:10.1016/j.ccr.2004.11.022 · Cited by 2,108 · see citing works
On the origin of mitosing cells
Sagan, L. (1967) · Journal of Theoretical Biology · doi:10.1016/0022-5193(67)90079-3 · Cited by 1,870 · see citing works
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
Holt, I. J., Harding, A. E., & MORGAN-HUGHES, J. A. (1988) · Nature · doi:10.1038/331717a0 · Cited by 1,845 · see citing works
Human Cells Lacking mtDNA: Repopulation with Exogenous Mitochondria by Complementation
King, M. P., & Attardi, G. M. (1989) · Science · doi:10.1126/science.2814477 · Cited by 1,659 · see citing works
Mitochondrial Respiratory-Chain Diseases
DiMauro, S., & Schon, E. A. (2003) · New England Journal of Medicine · doi:10.1056/nejmra022567 · Cited by 1,650 · see citing works
Self-citationThe Multiple Leiomyoma Consortium (2002) · Nature Genetics · doi:10.1038/ng849 · Cited by 1,635 · see citing works
Bender, A., Krishnan, K. J., Morris, C. M., Taylor, G. A., Reeve, A. K., Perry, R. H., Jaros, E., Hersheson, J. S., Betts, J., Klopstock, T., et al. (2006) · Nature Genetics · doi:10.1038/ng1769 · Cited by 1,570 · see citing works
Metabolite profiling identifies a key role for glycine in rapid cancer cell proliferation
Jain, M., Nilsson, R., Sharma, S., Madhusudhan, N., Kitami, T., Souza, A. L., Kafri, R., Kirschner, M. W., Clish, C. B., & Mootha, V. K. (2012) · Science · doi:10.1126/science.1218595 · Cited by 1,403 · see citing works
Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation
(1990) · Trends in Genetics · doi:10.1016/0168-9525(90)90040-d · Cited by 1,386 · see citing works
Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Öztaş, S., Qiu, W.-Q., ARNOS, K. S., Cortopassi, G. A., Jaber, L., Rotter, J. I., et al. (1993) · Nature Genetics · doi:10.1038/ng0793-289 · Cited by 1,190 · see citing works
Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome
Moraes, C. T., DiMauro, S., Zeviani, M., Lombès, A., Shanske, S., Miranda, A. F., Nakase, H., Bonilla, E., Werneck, L. C., Servidei, S., et al. (1989) · New England Journal of Medicine · doi:10.1056/nejm198905183202001 · Cited by 1,029 · see citing works
Self-citationA new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
Holt, I. J., Harding, A. E., Petty, R., & MORGAN-HUGHES, J. A. (1990) · PubMed · Cited by 996 · see citing works
Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder
Nishino, I., Spinazzola, A., & Hirano, M. (1999) · Science · doi:10.1126/science.283.5402.689 · Cited by 899 · see citing works
Self-citationMitochondrial DNA deletions in human brain: regional variability and increase with advanced age
Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., Flint Beal, M., & Wallace, D. C. (1992) · Nature Genetics · doi:10.1038/ng1292-324 · Cited by 890 · see citing works
Kraytsberg, Y., Kudryavtseva, E., McKee, A. C., Geula, C., Kowall, N. W., & Khrapko, K. (2006) · Nature Genetics · doi:10.1038/ng1778 · Cited by 884 · see citing works
Spelbrink, J. N., Li, F.-Y., Tiranti, V., Nikali, K., Yuan, Q.-P., Tariq, M., Wanrooij, S., Garrido, N., Comi, G., Morandi, L., et al. (2001) · Nature Genetics · doi:10.1038/90058 · Cited by 882 · see citing works
Van Goethem, G., Dermaut, B., Löfgren, A., Martin, J.-J., & Van Broeckhoven, C. (2001) · Nature Genetics · doi:10.1038/90034 · Cited by 841 · see citing works
Somatic mutations of the mitochondrial genome in human colorectal tumours
Polyák, K., Li, Y., Zhu, H., Christoph Lengauer, C., Willson, J. K. V., Markowitz, S. D., Trush, M. A., Kinzler, K. W., & Vogelstein, B. (1998) · Nature Genetics · doi:10.1038/3108 · Cited by 834 · see citing works
Effects of Purifying and Adaptive Selection on Regional Variation in Human mtDNA
Ruiz‐Pesini, E., Mishmar, D., Brandon, M., Procaccio, V., & Wallace, D. C. (2004) · Science · doi:10.1126/science.1088434 · Cited by 806 · see citing works
A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues.
Cortopassi, G. A., Shibata, D. K., Soong, N.-W., & Arnheim, N. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.16.7370 · Cited by 639 · see citing works
Mitochondria in cancer cells: what is so special about them?
Gogvadze, V. G., Orrenius, S., & Zhivotovsky, B. (2008) · Trends in Cell Biology · doi:10.1016/j.tcb.2008.01.006 · Cited by 636 · see citing works
Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance
Kaukonen, J., Juselius, J. K., Tiranti, V., Kyttälä, A., Zeviani, M., Comi, G. P., Keränen, S., Peltonen, L., & Suomalainen, A. (2000) · Science · doi:10.1126/science.289.5480.782 · Cited by 636 · see citing works
Molecular Poltergeists: Mitochondrial DNA Copies (numts) in Sequenced Nuclear Genomes
Hazkani‐Covo, E., Zeller, R. M., & Martin, W. F. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000834 · Cited by 630 · see citing works
Pathogenic Mitochondrial DNA Mutations Are Common in the General Population
Elliott, H. R., Samuels, D. C., Eden, J. A., Relton, C. L., & Chinnery, P. F. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.07.004 · Cited by 629 · see citing works
Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block
Kearns, T. P. (1958) · A M A Archives of Ophthalmology · doi:10.1001/archopht.1958.00940080296016 · Cited by 627 · see citing works
Progressive parkinsonism in mice with respiratory-chain-deficient dopamine neurons
Ekstrand, M. I., Terzioglu, M., Galter, D., Zhu, S., Hofstetter, C., Lindqvist, E., Thams, S., Bergstrand, A., Hansson, F. S., Trifunovic, A., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0605208103 · Cited by 605 · see citing works
Rapid examination of muscle tissue
Engel, W. K., & Cunningham, G. G. (1963) · Neurology · doi:10.1212/wnl.13.11.919 · Cited by 585 · see citing works
Moraes, C. T., Shanske, S., Tritschler, H., Aprille, J. R., Andreetta, F., Bonilla, E., Schon, E. A., & DiMauro, S. (1991) · PubMed · Cited by 583 · see citing works
Self-citationPrevalence of mitochondrial DNA disease in adults
Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F., & Turnbull, D. M. (2007) · Annals of Neurology · doi:10.1002/ana.21217 · Cited by 581 · see citing works
Mitochondria: The Next (Neurode)Generation
Schon, E. A., & Przedborski, S. (2011) · Neuron · doi:10.1016/j.neuron.2011.06.003 · Cited by 568 · see citing works
Self-citationA subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.
Kadowaki, T., Kadowaki, H., Mori, Y., Tobe, K., Sakuta, R., Suzuki, Y., Tanabe, Y., Sakura, H., Awata, T., Goto, Y.-I., et al. (1994) · New England Journal of Medicine · doi:10.1056/nejm199404073301403 · Cited by 551 · see citing works
van Nederveen, F. H., Gaal, J., Favier, J., Korpershoek, E., Oldenburg, R. A., de Bruyn, E. M., Sleddens, H. F. B. M., Derkx, P., Rivière, J., Dannenberg, H., et al. (2009) · The Lancet Oncology · doi:10.1016/s1470-2045(09)70164-0 · Cited by 534 · see citing works
Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA
Stewart, J. B., Freyer, C., Elson, J. L., Wredenberg, A., Cansu, Z., Trifunović, A., & Larsson, N. (2008) · PLoS Biology · doi:10.1371/journal.pbio.0060010 · Cited by 525 · see citing works
Monogenic Mitochondrial Disorders
Koopman, W. J. H., Willems, P. H. G. M., & Smeitink, J. A. M. (2012) · New England Journal of Medicine · doi:10.1056/nejmra1012478 · Cited by 515 · see citing works
Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
Calvo, S. E., Compton, A. G., Hershman, S. G., Lim, S. C., Lieber, D. S., Tucker, E. J., Laskowski, A., Garone, C., Liu, S., Jaffe, D. B., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003310 · Cited by 476 · see citing works
Self-citationPOLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
Naviaux, R. K., & Nguyen, K. V. (2004) · Annals of Neurology · doi:10.1002/ana.20079 · Cited by 459 · see citing works
King, M. P., Koga, Y., Davidson, M., & Schon, E. A. (1992) · Molecular and Cellular Biology · doi:10.1128/mcb.12.2.480 · Cited by 458 · see citing works
Self-citationBua, E., Johnson, J., Herbst, A., Delong, B., McKenzie, D., Salamat, S., & Aiken, J. M. (2006) · The American Journal of Human Genetics · doi:10.1086/507132 · Cited by 442 · see citing works
Pearson, H. A., Lobel, J. S., Kocoshis, S. A., Naiman, J. L., Windmiller, J., Lammi, A. T., Hoffman, R., & Marsh, J. C. (1979) · The Journal of Pediatrics · doi:10.1016/s0022-3476(79)80286-3 · Cited by 440 · see citing works
Voltage-dependent anion channel (VDAC) as mitochondrial governator—Thinking outside the box
Lemasters, J. J., & Holmuhamedov, E. (2005) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2005.10.006 · Cited by 437 · see citing works
Exercise Intolerance Due to Mutations in the CytochromebGene of Mitochondrial DNA
Andreu, A. L., Hanna, M. G., Reichmann, H., Bruno, C., Penn, A. S., Tanji, K., Pallotti, F., Iwata, S., Bonilla, E., Lach, B., et al. (1999) · New England Journal of Medicine · doi:10.1056/nejm199909303411404 · Cited by 427 · see citing works
Self-citationInoue, K., Nakada, K., Ogura, A., Isobe, K., Goto, Y., Nonaka, I., & Hayashi, J.-I. (2000) · Nature Genetics · doi:10.1038/82826 · Cited by 393 · see citing works
Pelicano, H., Xu, R., Du, M., Feng, L., Sasaki, R., Carew, J. S., Hu, Y., Ramdas, L., Hu, L., Keating, M. J., et al. (2006) · The Journal of Cell Biology · doi:10.1083/jcb.200512100 · Cited by 382 · see citing works
Targeting Mitochondrial Dysfunction: Role for PINK1 and Parkin in Mitochondrial Quality Control
Narendra, D. P., & Youle, R. J. (2011) · Antioxidants & Redox Signaling · doi:10.1089/ars.2010.3799 · Cited by 367 · see citing works
[27] Isolation of human cell lines lacking mitochondrial DNA
King, M. P., & Attardi, G. M. (1996) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(96)64029-4 · Cited by 355 · see citing works
Hudson, G., Carelli, V., Spruijt, L., Gerards, M., Mowbray, C., Achilli, A., Pyle, A., Elson, J. L., Howell, N., Morgia, C. L., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519394 · Cited by 353 · see citing works
Tyynismaa, H., Mjosund, K. P., Wanrooij, S., Lappalainen, I., Ylikallio, E., Jalanko, A., Spelbrink, J. N., Paetau, A., & Suomalainen, A. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0505551102 · Cited by 342 · see citing works
Loveland, B. E. (1990) · Cell · doi:10.1016/0092-8674(90)90345-f · Cited by 320 · see citing works
l -Arginine improves the symptoms of strokelike episodes in MELAS
Koga, Y., Akita, Y., Nishioka, J., Yatsuga, S., Povalko, N., Tanabe, Y., Fujimoto, S., & Matsuishi, T. (2005) · Neurology · doi:10.1212/01.wnl.0000151976.60624.01 · Cited by 310 · see citing works
Sciacco, M., Bonilla, E., Schon, E. A., DiMauro, S., & Moraes, C. T. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.1.13 · Cited by 305 · see citing works
Self-citationGreaves, L. C., Reeve, A. K., Taylor, R. W., & Turnbull, D. M. (2011) · The Journal of Pathology · doi:10.1002/path.3028 · Cited by 301 · see citing works
KEARNS-SAYRE SYNDROME WITH MUSCLE MITOCHONDRIAL DNA DELETION
Lestienne, P. P., & Ponsot, G. (1988) · The Lancet · doi:10.1016/s0140-6736(88)91632-7 · Cited by 300 · see citing works
Majewski, N., Nogueira, V., Robey, R. B., & Hay, N. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.24.2.730-740.2004 · Cited by 289 · see citing works
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
Santorelli, F. M., Shanske, S., Macaya, A., Vivo, D. C. D., & DiMauro, S. (1993) · Annals of Neurology · doi:10.1002/ana.410340612 · Cited by 256 · see citing works
Self-citationStorlazzi, C. T., Lonoce, A., Guastadisegni, M. C., Trombetta, D., D’Addabbo, P., Daniele, G., L’Abbate, A., Macchia, G., Surace, C., Kok, K., et al. (2010) · Genome Research · doi:10.1101/gr.106252.110 · Cited by 254 · see citing works
Oestrogens ameliorate mitochondrial dysfunction in Leber’s hereditary optic neuropathy
Giordano, C., Montopoli, M., Perli, E., Orlandi, M., Fantin, M., Ross‐Cisneros, F. N., Caparrotta, L., Martinuzzi, A., Ragazzi, E., Ghelli, A. M., et al. (2010) · Brain · doi:10.1093/brain/awq276 · Cited by 251 · see citing works
Yu, M., Zhou, Y., Shi, Y., Ning, L., Yang, Y., Wei, X., Zhang, N., Hao, X., & Niu, R. (2007) · IUBMB Life · doi:10.1080/15216540701509955 · Cited by 250 · see citing works
HIONA, A. (2008) · Experimental Gerontology · doi:10.1016/j.exger.2007.10.001 · Cited by 247 · see citing works
Simonetti, S., Chen, X., DiMauro, S., & Schon, E. A. (1992) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/0925-4439(92)90059-v · Cited by 241 · see citing works
Self-citationChinnery, P. F., Samuels, D. C., Elson, J. L., & Turnbull, D. M. (2002) · The Lancet · doi:10.1016/s0140-6736(02)11310-9 · Cited by 234 · see citing works
Umeda, N., Suzuki, T., Yukawa, M., Ohya, Y., Shindo, H., Watanabe, K., & Suzuki, T. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m409306200 · Cited by 230 · see citing works
Yu, M. (2011) · Life Sciences · doi:10.1016/j.lfs.2011.05.010 · Cited by 216 · see citing works
Shiva, S., Brookes, P. S., Patel, R. P., Anderson, P. G., & Darley-Usmar, V. M. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.131128898 · Cited by 212 · see citing works
Mita, S., Schmidt, B., Schon, E. A., DiMauro, S., & Bonilla, E. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.23.9509 · Cited by 211 · see citing works
Self-citationTorres, J., Darley-Usmar, V. M., & Wilson, M. T. (1995) · Biochemical Journal · doi:10.1042/bj3120169 · Cited by 206 · see citing works
Mourier, T., Hansen, A. J., Willerslev, E., & Arctander, P. (2001) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a003971 · Cited by 191 · see citing works
Nishigaki, Y., Martí, R., Copeland, W. C., & Hirano, M. (2003) · Journal of Clinical Investigation · doi:10.1172/jci17828 · Cited by 191 · see citing works
Self-citationMitochondrial Stress Engages E2F1 Apoptotic Signaling to Cause Deafness
Raimundo, N., Song, L., Shutt, T. E., McKay, S. E., Cotney, J. L., Guan, M., Gilliland, T., Hohuan, D., Santos‐Sacchi, J., & Shadel, G. S. (2012) · Cell · doi:10.1016/j.cell.2011.12.027 · Cited by 189 · see citing works
Mechanisms of mitochondrial diseases
Ylikallio, E., & Suomalainen, A. (2011) · Annals of Medicine · doi:10.3109/07853890.2011.598547 · Cited by 185 · see citing works
Carelli, V., Achilli, A., Valentino, M. L., Rengo, C., Semino, O., Pala, M., Olivieri, A., Mattiazzi, M., Pallotti, F., Carrara, F., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/501236 · Cited by 184 · see citing works
Comprehensive Association Testing of Common Mitochondrial DNA Variation in Metabolic Disease
Saxena, R., de Bakker, P. I. W., Singer, K., Mootha, V. K., Burtt, N. P., Hirschhorn, J. N., Gaudet, D., Isomaa, B., Daly, M. J., Groop, L., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/504926 · Cited by 183 · see citing works
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype
Kaufmann, P., Engelstad, K., Wei, Y., Kulikova, R., Oskoui, M., Sproule, D. M., Battista, V., Koenigsberger, D. Y., Pascual, J. M., Shanske, S., et al. (2011) · Neurology · doi:10.1212/wnl.0b013e31823a0c7f · Cited by 176 · see citing works
Self-citationPrevalence of Mitochondrial 1555A→G Mutation in European Children
Bitner-Glindzicz, M. A. K., Pembrey, M. E., Duncan, A., Heron, J., Ring, S. M., Hall, A. J., & Rahman, S. (2009) · New England Journal of Medicine · doi:10.1056/nejmc0806396 · Cited by 172 · see citing works
Gilkerson, R., de Vries, R. L. A., Lebot, P., Wikström, J. D., Törgyekes, E., Shirihai, O. S., Przedborski, S., & Schon, E. A. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr529 · Cited by 169 · see citing works
Self-citationMolecular analysis of the muscle pathology associated with mitochondrial DNA deletions
Moraes, C. T., Ricci, E., Petruzzella, V., Shanske, S., DiMauro, S., Schon, E. A., & Bonilla, E. (1992) · Nature Genetics · doi:10.1038/ng0892-359 · Cited by 164 · see citing works
Self-citationMitochondrial nucleoids maintain genetic autonomy but allow for functional complementation
Gilkerson, R., Schon, E. A., Hernández, E., & Davidson, M. M. (2008) · The Journal of Cell Biology · doi:10.1083/jcb.200712101 · Cited by 163 · see citing works
Self-citationReactive oxygen species, oxidative stress, and cell death correlate with level of CoQ 10 deficiency
Quinzii, C. M., López, L. C., Gilkerson, R., Dorado, B., Çoku, J., Naini, A., Lagier‐Tourenne, C., Schuelke, M., Salviati, L., Carrozzo, R., et al. (2010) · The FASEB Journal · doi:10.1096/fj.09-152728 · Cited by 162 · see citing works
Self-citationMeißner, C., Bruse, P., Mohamed, S. A., Schulz, A., Warnk, H., Storm, T., & Oehmichen, M. (2008) · Experimental Gerontology · doi:10.1016/j.exger.2008.03.004 · Cited by 154 · see citing works
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer
Turner, C., Killoran, C., Thomas, N. S. T., Rosenberg, M. J., Chuzhanova, N. A., Johnston, J. J., Kemel, Y. M., Cooper, D. N., & Biesecker, L. G. (2003) · Human Genetics · doi:10.1007/s00439-002-0892-2 · Cited by 138 · see citing works
Approaches to the treatment of mitochondrial diseases
DiMauro, S., Hirano, M., & Schon, E. A. (2006) · Muscle & Nerve · doi:10.1002/mus.20598 · Cited by 138 · see citing works
Self-citationSantoro, A., Balbi, V., Balducci, E., Pirazzini, C., Rosini, F., Tavano, F., Achilli, A., Siviero, P., Minicuci, N., Bellavista, E., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0012037 · Cited by 134 · see citing works
Nakase, H., Moraes, C. T., Rizzuto, R., Lombès, A., DiMauro, S., & Schon, E. A. (1990) · PubMed · Cited by 132 · see citing works
Self-citationRegulation of glucose metabolism by p53: Emerging new roles for the tumor suppressor
Madan, E., Gogna, R., Bhatt, M. L. B., Pati, U., Kuppusamy, P., & Mahdi, A. A. (2011) · Oncotarget · doi:10.18632/oncotarget.389 · Cited by 130 · see citing works
Prevalence of Mitochondrial 1555A→G Mutation in Adults of European Descent
Vandebona, H., Mitchell, P., Manwaring, N., Griffiths, K., Gopinath, B., Wang, J. J., & Sue, C. M. (2009) · New England Journal of Medicine · doi:10.1056/nejmc0806397 · Cited by 124 · see citing works
Petruzzella, V., Moraes, C. T., Sano, M. C., Bonilla, S., DiMauro, S., & Schon, E. A. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.3.449 · Cited by 118 · see citing works
Self-citationMolecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
Horváth, R., Kemp, J. P., Tuppen, H. A. L., Hudson, G., Oldfors, A., Marie, S. K. N., Moslemi, A. ‐., Servidei, S., Holme, E., Shanske, S., et al. (2009) · Brain · doi:10.1093/brain/awp221 · Cited by 118 · see citing works
Self-citationSgarbi, G., Baracca, A., Lenaz, G., Valentino, M. L., Carelli, V., & Solaini, G. (2006) · Biochemical Journal · doi:10.1042/bj20051748 · Cited by 117 · see citing works
A functionally dominant mitochondrial DNA mutation
Sacconi, S., Salviati, L., Nishigaki, Y., Walker, W. F., Hernandez-Rosa, E., Trevisson, E., Delplace, S., Desnuelle, C., Shanske, S., Hirano, M., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn073 · Cited by 113 · see citing works
Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs
Suzuki, T., Nagao, A., & Suzuki, T. (2011) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.65 · Cited by 112 · see citing works
Ellinger, J., Müller, D. C., Müller, S. C., Hauser, S., Heukamp, L. C., von Ruecker, A., Bastian, P. J., & Walgenbach‐Brünagel, G. (2010) · Urologic Oncology Seminars and Original Investigations · doi:10.1016/j.urolonc.2010.03.004 · Cited by 111 · see citing works
(1994) · PubMed · Cited by 109 · see citing works
Delay of muscle degeneration and necrosis in mdx mice by calpain inhibition
Badalamente, M. A., & Stracher, A. (2000) · Muscle & Nerve · doi:10.1002/(sici)1097-4598(200001)23:1 · Cited by 105 · see citing works
Self-citationA Mitochondrial Etiology of Neurodegenerative Diseases: Evidence from Parkinson's Disease
Хуснутдинова, Э. К., Gilyazova, I. R., Ruiz‐Pesini, E., Derbeneva, O. A., Khusainova, R. I., Khidiyatova, I. M., Magzhanov, R. V., & Wallace, D. C. (2008) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1427.001 · Cited by 105 · see citing works
Hypocitrullinemia in patients with MELAS: an insight into the “MELAS paradox”
Naini, A., Kaufmann, P., Shanske, S., Engelstad, K., Vivo, D. C. D., & Schon, E. A. (2004) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2004.11.026 · Cited by 103 · see citing works
Self-citationSanGiovanni, J. P., Arking, D. E., Iyengar, S. K., Elashoff, M. R., Clemons, T. E., Reed, G. F., Henning, A. K., Sivakumaran, T. A., Xu, X., DeWan, A. T., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0005508 · Cited by 101 · see citing works
Battersby, B. J. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.22.2469 · Cited by 101 · see citing works
Ghelli, A. M., Porcelli, A. M., Zanna, C., Vidoni, S., Mattioli, S., Barbieri, A., Iommarini, L., Pala, M., Achilli, A., Torroni, A., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0007922 · Cited by 97 · see citing works
The pseudo-mitochondrial genome influences mistakes in heteroplasmy interpretation
Parr, R. L., Maki, J., Reguly, B., Dakubo, G. D., Aguirre, A., Wittock, R., Robinson, K., Jakupciak, J. P., & Thayer, R. E. (2006) · BMC Genomics · doi:10.1186/1471-2164-7-185 · Cited by 96 · see citing works
Pallotti, F., Chen, X., Bonilla, E., & Schon, E. A. (1996) · PubMed Central · Cited by 93 · see citing works
Self-citationMitochondrial Mutations and Polymorphisms in Psychiatric Disorders
Sequeira, A., Martin, M. V., Rollins, B. L., Moon, E. A., Bunney, W. E., Macciardi, F. M., Lupoli, S., Smith, E. N., Kelsoe, J. R., Magnan, C. N., et al. (2012) · Frontiers in Genetics · doi:10.3389/fgene.2012.00103 · Cited by 93 · see citing works
Mutations in mtDNA: Are We Scraping the Bottom of the Barrel?
DiMauro, S., & Andreu, A. L. (2000) · Brain Pathology · doi:10.1111/j.1750-3639.2000.tb00275.x · Cited by 88 · see citing works
Self-citationTransfer of a mitochondrial DNA fragment toMCOLN1 causes an inherited case of mucolipidosis IV
Goldin, E., Stahl, S., Cooney, A. M., Kaneski, C. R., Gupta, S. N., Brady, R. O., Ellis, J. R., & Schiffmann, R. (2004) · Human Mutation · doi:10.1002/humu.20094 · Cited by 87 · see citing works
Decreased Mitochondrial DNA Mutagenesis in Human Colorectal Cancer
Ericson, N. G., Kulawiec, M., Vermulst, M., Sheahan, K. D., O'Sullivan, J. N., Salk, J. J., & Bielas, J. H. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002689 · Cited by 87 · see citing works
Environmental stress increases the entry of cytoplasmic organellar DNA into the nucleus in plants
Wang, D., Lloyd, A. H., & Timmis, J. N. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1117890109 · Cited by 82 · see citing works
Peters, G. J., Schwartsmann, G., Nadal, J. C., Laurensse, E. J., van Groeningen, C. J., van der Vijgh, W. J. F., & Pinedo, H. M. (1990) · PubMed · Cited by 80 · see citing works
Mitochondrial DNA deletions are associated with non-B DNA conformations
Damas, J., Carneiro, J., Gonçalves, J., Stewart, J. B., Samuels, D. C., Amorim, A., & Pereira, F. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks500 · Cited by 77 · see citing works
Hayashi, J., Takemitsu, M., & Nonaka, I. (1992) · Somatic Cell and Molecular Genetics · doi:10.1007/bf01233159 · Cited by 70 · see citing works
Parr, R. L., Dakubo, G. D., Crandall, K. A., Maki, J. N., Reguly, B., Aguirre, A. A., Wittock, R., Robinson, K., Alexander, J. S., Birch‐Machin, M. A., et al. (2006) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2006.050112 · Cited by 69 · see citing works
Mitochondrial DNA Content Varies with Pathological Characteristics of Breast Cancer
Bai, R., Chang, J., Yeh, K., Lou, M. A., Lu, J., Tan, D., Liu, H., & Wong, L. C. (2011) · Journal of Oncology · doi:10.1155/2011/496189 · Cited by 68 · see citing works
Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocation
Willett-Brozick, J. E., Savul, S., Richey, L., & Baysal, B. E. (2001) · Human Genetics · doi:10.1007/s004390100564 · Cited by 67 · see citing works
Amo, T., & Brand, M. D. (2007) · Biochemical Journal · doi:10.1042/bj20061609 · Cited by 67 · see citing works
Uusimaa, J., Jungbluth, H., Fratter, C., Crisponi, G., Feng, L., Zeviani, M., Hughes, I., Treacy, E. P., Birks, J., Brown, G., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmg.2011.089995 · Cited by 67 · see citing works
New Morphological Approaches to the Study of Mitochondrial Encephalomyopathies
Bonilla, E., Sciacco, M., Tanji, K., Sparaco, M., Petruzzella, V., & Moraes, C. T. (1992) · Brain Pathology · doi:10.1111/j.1750-3639.1992.tb00679.x · Cited by 62 · see citing works
Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres
Oldfors, A., Larsson, N., Holme, E., Tulinius, M., Kadenbach, B., & Droste, M. (1992) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(92)90025-g · Cited by 61 · see citing works
Ashley, N., Adams, S., Slama, A., Zeviani, M., Suomalainen, A., Andreu, A. L., Naviaux, R. K., & Poulton, J. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm090 · Cited by 61 · see citing works
Mitochondrial haplogroup H correlates with ATP levels and age at onset in Huntington disease
Arning, L., Haghikia, A., Taherzadeh-Fard, E., Carsten Saft, C., Andrich, J., Puła, B., Höxtermann, S., Wieczorek, S., Akkad, D. A., Perrech, M., et al. (2010) · Journal of Molecular Medicine · doi:10.1007/s00109-010-0589-2 · Cited by 60 · see citing works
Mitochondrial DNA sequences are present inside nuclear DNA in rat tissues and increase with age
Caro, P., Gómez, J., Arduini, A., González-Sánchez, M., González-García, M., Borrás, C., Viña, J., Puertas, M. J., Sastre, J., & Barja, G. (2010) · Mitochondrion · doi:10.1016/j.mito.2010.05.004 · Cited by 56 · see citing works
Bodyak, N. D. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.1.17 · Cited by 55 · see citing works
Cheng, X., & Ivessa, A. (2010) · Aging Cell · doi:10.1111/j.1474-9726.2010.00607.x · Cited by 54 · see citing works
Valsesia, A., Rimoldi, D., Martinet, D., Ibberson, M. R., Benaglio, P., Quadroni, M., Waridel, P., Gaillard, M., Pidoux, M., Rapin, B., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0018369 · Cited by 54 · see citing works
Mitochondrial–nuclear epistasis: Implications for human aging and longevity
Tranah, G. J. (2010) · Ageing Research Reviews · doi:10.1016/j.arr.2010.06.003 · Cited by 54 · see citing works
Polymorphic NumtS trace human population relationships
Lang, M., Sazzini, M., Calabrese, F. M., Simone, D., Boattini, A., Romeo, G. C., Luiselli, D., Attimonelli, M., & Gasparre, G. (2011) · Human Genetics · doi:10.1007/s00439-011-1125-3 · Cited by 49 · see citing works
Maki, J., Robinson, K., Reguly, B., Alexander, J. S., Wittock, R., Aguirre, A., Diamandis, E. P., Escott, N. G., Skehan, A. M., Prowse, O., et al. (2007) · American Journal of Clinical Pathology · doi:10.1309/ujjth4hfepwaq78q · Cited by 45 · see citing works
Nuclear insertions of mitochondrial origin: Database updating and usefulness in cancer studies
Ramos, A., Barbena, E., Mateiu, L. M., González, M. D. M., Mairal, Q., Lima, M. C. F., Montiel, R., Aluja, M. P., & dos Santos, C. M. P. (2011) · Mitochondrion · doi:10.1016/j.mito.2011.08.009 · Cited by 45 · see citing works
Common Mitochondrial Sequence Variants in Ischemic Stroke
Anderson, C., Biffi, A., Rahman, R., Ross, O. A., Jagiełła, J., Kissela, B., Cole, J. W., Cortellini, L., Rost, N., Cheng, Y.-C., et al. (2010) · Annals of Neurology · doi:10.1002/ana.22108 · Cited by 43 · see citing works
Mitochondrial DNA sequence variation and neurodegeneration
Mancuso, M., Filosto, M., Orsucci, D., & Siciliano, G. (2008) · Human Genomics · doi:10.1186/1479-7364-3-1-71 · Cited by 42 · see citing works
Aortic Rupture in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes
Tay, S. K. H., Nordli, D. R., Bonilla, E., Null, E., Monaco, S. E., Hirano, M., & DiMauro, S. (2006) · Archives of Neurology · doi:10.1001/archneur.63.2.281 · Cited by 40 · see citing works
Self-citationYan, Q., Bykhovskaya, Y., Li, R., Mengesha, E., Shohat, M., Estivill, X., Fischel‐Ghodsian, N., & Guan, M. (2006) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2006.02.078 · Cited by 37 · see citing works
Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions
Moraes, C. T., Sciacco, M., Ricci, E., Tengan, C. H., Hao, H., Bonilla, E., Schon, E. A., & DiMauro, S. (1995) · Muscle & Nerve · doi:10.1002/mus.880181429 · Cited by 36 · see citing works
Self-citationDihydroorotate-quinone reductase of neurospora crassa mitochondria
Miller, R. W., & Adams, W. C. (1971) · Archives of Biochemistry and Biophysics · doi:10.1016/s0003-9861(71)80063-2 · Cited by 35 · see citing works
Absence of pathogenic mitochondrial DNA mutations in mouse brain tumors
Kiebish, M. A., & Seyfried, T. N. (2005) · BMC Cancer · doi:10.1186/1471-2407-5-102 · Cited by 32 · see citing works
Nishigaki, Y., Fuku, N., & Tanaka, M. (2010) · Geriatrics and gerontology international/Geriatrics & gerontology international · doi:10.1111/j.1447-0594.2010.00599.x · Cited by 31 · see citing works
Rodríguez-Juárez, F., Aguirre, E., & Cadenas, S. (2007) · Biochemical Journal · doi:10.1042/bj20070033 · Cited by 31 · see citing works
Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation
Siao, P., Vucic, S., Hedley‐Whyte, E. T., Dreyer, M., & Cros, D. (2003) · Journal of Clinical Neuromuscular Disease · doi:10.1097/00131402-200309000-00001 · Cited by 31 · see citing works
Power and SNP tagging in whole mitochondrial genome association studiesPreprint
McRae, A. F., Byrne, E. M., Zhao, Z., Montgomery, G. W., & Visscher, P. M. (2008) · Genome Research · doi:10.1101/gr.074872.107 · Cited by 30 · see citing works
Hasegawa, H., Matsuoka, T., Goto, Y., & Nonaka, I. (1993) · Acta Neuropathologica · doi:10.1007/bf00227723 · Cited by 22 · see citing works
Control of mitochondrial integrity in Parkinson’s disease
Vives-Bauzá, C., Tocilescu, M. A., deVries, R. L. A., Wolken, D. M. A., Jackson-Lewis, V. R., & Przedborski, S. (2010) · Progress in brain research · doi:10.1016/s0079-6123(10)83006-7 · Cited by 21 · see citing works
Associating Mitochondrial DNA Variation with Complex Traits
Elson, J. L., Majamaa, K., Howell, N., & Chinnery, P. F. (2007) · The American Journal of Human Genetics · doi:10.1086/511652 · Cited by 19 · see citing works
Appendix 1. Basic Properties of Mitochondria
García‐Rodríguez, L. J. (2007) · Methods in cell biology · doi:10.1016/s0091-679x(06)80040-3 · Cited by 19 · see citing works
Yoneda, M., Miyatake, T., & Attardi, G. M. (1995) · Muscle & Nerve · doi:10.1002/mus.880181420 · Cited by 18 · see citing works
Ingram, C. J. E., Weale, M. E., Plaster, C. A., Morrison, K. E., Goodall, G., Pall, H., Beck, M., Jablonka, S., Sendtner, M., Fisher, E., et al. (2012) · Amyotrophic Lateral Sclerosis · doi:10.3109/17482968.2012.654394 · Cited by 14 · see citing works
Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia
Sánchez-Ferrero, E., Coto, E., Corao, A. I., Díaz, M., Gámez, J., Esteban‐Pérez, J., Gonzalo, J. F., Pascual, S. I. P., de Munaín, A. L., Morís, G., et al. (2011) · Journal of Neurology · doi:10.1007/s00415-011-6155-1 · Cited by 12 · see citing works
No evidence of association between frontotemporal dementia and major European mtDNA haplogroups
Rose, G., Longo, T., Maletta, R., Passarino, G., Bruni, A. C., & BENEDICTIS, G. D. (2008) · European Journal of Neurology · doi:10.1111/j.1468-1331.2008.02222.x · Cited by 11 · see citing works
ENZYME PATTERNS OF TUMORS DEMONSTRATED HISTOCHEMICALLY IN CRYOSTAT SECTIONS
Melnick, P. J. (1965) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1965.tb45422.x · Cited by 10 · see citing works
Lee, J., Ryu, T.-Y., Cho, C., & Kim, D.-K. (2010) · Pathology & Oncology Research · doi:10.1007/s12253-010-9297-z · Cited by 8 · see citing works
Hirano, T., Shiraishi, K., Adachi, K., Miura, S., Watanabe, H., & Utiyama, H. (1999) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/s0027-5107(99)00037-8 · Cited by 7 · see citing works
Increased activity of surviving locus ceruleus neurons in Alzheimer's disease
Moser (1999) · Pure Amsterdam UMC · doi:10.1002/1531-8249(199901)45:1
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Gorman, G. S., Chinnery, P. F., DiMauro, S., Hirano, M., Koga, Y., McFarland, R., Suomalainen, A., Thorburn, D. R., Zeviani, M., & Turnbull, D. M. (2016) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2016.80 · Cited by 1,615 · see citing works
Self-citationBirsoy, K., Wang, T., Chen, W. W., Freinkman, E., Abu-Remaileh, M., & Sabatini, D. M. (2015) · Cell · doi:10.1016/j.cell.2015.07.016 · Cited by 1,388 · see citing works
Mitochondrial dynamics and inheritance during cell division, development and disease
Mishra, P., & Chan, D. C. (2014) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3877 · Cited by 1,038 · see citing works
The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease
Stewart, J. B., & Chinnery, P. F. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3966 · Cited by 1,041 · see citing works
Mitochondrial function as a therapeutic target in heart failure
Brown, D. A., Perry, J. B., Allen, M. E., Sabbah, H. N., Stauffer, B. L., Shaikh, S. R., Cleland, J. G. F., Colucci, W. S., Butler, J., Voors, A. A., et al. (2016) · Nature Reviews Cardiology · doi:10.1038/nrcardio.2016.203 · Cited by 811 · see citing works
Tan, A. S., Baty, J. W., Dong, L.-F., Bezawork-Geleta, A., Endaya, B., Goodwin, J., Bajzikova, M., Kovarova, J., Peterka, M., Yan, B., et al. (2015) · Cell Metabolism · doi:10.1016/j.cmet.2014.12.003 · Cited by 785 · see citing works
Mitochondrial dysfunction in diabetic kidney disease
Forbes, J. M., & Thorburn, D. R. (2018) · Nature Reviews Nephrology · doi:10.1038/nrneph.2018.9 · Cited by 641 · see citing works
α-Synuclein binds to TOM20 and inhibits mitochondrial protein import in Parkinson’s disease
Di Maio, R., Barrett, P. J., Hoffman, E. K., Barrett, C. W., Zharikov, A., Borah, A., Hu, X., McCoy, J., Chu, C. T., Burton, E. A., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aaf3634 · Cited by 619 · see citing works
Mitochondria functionality and sperm quality
Amaral, A., Lourenço, B., Marques, M., & Ramalho‐Santos, J. (2013) · Reproduction · doi:10.1530/rep-13-0178 · Cited by 578 · see citing works
Mitochondria as a Target of Environmental Toxicants
Meyer, J. N., Leung, M. C. K., Rooney, J. P., Sendoel, A., Hengartner, M. O., Kisby, G. E., & Bess, A. S. (2013) · Toxicological Sciences · doi:10.1093/toxsci/kft102 · Cited by 571 · see citing works
Mitochondrial DNA copy number variation across human cancers
Reznik, E., Miller, M. L., Şenbabaoğlu, Y., Riaz, N., Sarungbam, J., Tickoo, S. K., Al‐Ahmadie, H. A., Lee, W., Seshan, V., Hakimi, A. A., et al. (2016) · eLife · doi:10.7554/elife.10769 · Cited by 515 · see citing works
Emerging roles of tRNA in adaptive translation, signalling dynamics and disease
Kirchner, S., & Ignatova, Z. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3861 · Cited by 524 · see citing works
Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer
Ju, Y. S., Alexandrov, L. B., Gerstung, M., Martin, S., Nik‐Zainal, S., Ramakrishna, M., Davies, H. R., Papaemmanuil, E., Gundem, G., Shlien, A., et al. (2014) · eLife · doi:10.7554/elife.02935 · Cited by 481 · see citing works
Comprehensive molecular characterization of mitochondrial genomes in human cancers
Yuan, Y., Ju, Y. S., Kim, Y.-W., Li, J., Wang, Y., Yoon, S.-S., Yang, Y., Martincorena, I., Creighton, C. J., Weinstein, J. N., et al. (2020) · Nature Genetics · doi:10.1038/s41588-019-0557-x · Cited by 468 · see citing works
Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs
Bacman, S. R., Williams, S. L., Pinto, M., Peralta, S., & Moraes, C. T. (2013) · Nature Medicine · doi:10.1038/nm.3261 · Cited by 432 · see citing works
Programmed cell death in aging
Tower, J. (2015) · Ageing Research Reviews · doi:10.1016/j.arr.2015.04.002 · Cited by 426 · see citing works
Chlorinated Persistent Organic Pollutants, Obesity, and Type 2 Diabetes
Lee, D., Porta, M. S., Jacobs, D. R., & Vandenberg, L. N. (2014) · Endocrine Reviews · doi:10.1210/er.2013-1084 · Cited by 420 · see citing works
Mitochondrial dysfunction in inherited renal disease and acute kidney injury
Emma, F., Montini, G., Parikh, S. M., & Salviati, L. (2016) · Nature Reviews Nephrology · doi:10.1038/nrneph.2015.214 · Cited by 399 · see citing works
Chinnery, P. F., & Hudson, G. (2013) · British Medical Bulletin · doi:10.1093/bmb/ldt017 · Cited by 395 · see citing works
Orlandini von Niessen, A. G., Poleganov, M. A., Rechner, C., Plaschke, A., Kranz, L. M., Fesser, S., Diken, M., Löwer, M., Vallazza, B., Beissert, T., et al. (2019) · Molecular Therapy · doi:10.1016/j.ymthe.2018.12.011 · Cited by 365 · see citing works
Meiners, S., Eickelberg, O., & Königshoff, M. (2015) · European Respiratory Journal · doi:10.1183/09031936.00186914 · Cited by 340 · see citing works
The clinical maze of mitochondrial neurology
DiMauro, S., Schon, E. A., Carelli, V., & Hirano, M. (2013) · Nature Reviews Neurology · doi:10.1038/nrneurol.2013.126 · Cited by 351 · see citing works
Self-citationTowards clinical application of pronuclear transfer to prevent mitochondrial DNA disease
Hyslop, L., Blakeley, P., Craven, L., Richardson, J. M., Fogarty, N. M. E., Fragouli, E., Lamb, M., Wamaitha, S. E., Prathalingam, N., Zhang, Q., et al. (2016) · Nature · doi:10.1038/nature18303 · Cited by 345 · see citing works
Oocyte mitochondrial function and reproduction
Babayev, E., & Seli, E. U. (2015) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/gco.0000000000000164 · Cited by 333 · see citing works
Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations
Kang, E., Wu, J., Gutiérrez, N. M., Koski, A., Tippner-Hedges, R., Agaronyan, K., Platero-Luengo, A., Martínez‐Redondo, P., Ma, H., Lee, Y., et al. (2016) · Nature · doi:10.1038/nature20592 · Cited by 327 · see citing works
Wang, C., Wu, S., Wu, Y., & Wei, Y. (2013) · Experimental Biology and Medicine · doi:10.1177/1535370213493069 · Cited by 315 · see citing works
Role of mitochondrial dysfunction in cancer progression
Hsu, C., Tseng, L., & Lee, H. (2016) · Experimental Biology and Medicine · doi:10.1177/1535370216641787 · Cited by 306 · see citing works
The function of the respiratory supercomplexes: The plasticity model
Acín‐Pérez, R., & Enrı́quez, J. A. (2013) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2013.12.009 · Cited by 301 · see citing works
Mitochondrial DNA variation and cancer
Kopinski, P. K., Singh, L. N., Zhang, S., Lott, M. T., & Wallace, D. C. (2021) · Nature reviews. Cancer · doi:10.1038/s41568-021-00358-w · Cited by 301 · see citing works
Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals
Ye, K., Lü, J., Ma, F., Keinan, A., & Gu, Z. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1403521111 · Cited by 296 · see citing works
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Viale, A., Corti, D., & Draetta, G. F. (2015) · Cancer Research · doi:10.1158/0008-5472.can-15-0491 · Cited by 265 · see citing works
New Perspectives on Proton Pumping in Cellular Respiration
Wikström, M. K. F., Sharma, V., Kaila, V. R. I., Hosler, J. P., & Hummer, G. (2015) · Chemical Reviews · doi:10.1021/cr500448t · Cited by 258 · see citing works
Sahuri-Arisoylu, M., Brody, L., Parkinson, J. R. C., Parkes, H. G., Navaratnam, N., Miller, A. D., Thomas, E. L., Frost, G. S., & Bell, J. D. (2016) · International Journal of Obesity · doi:10.1038/ijo.2016.23 · Cited by 255 · see citing works
Gene Therapy for Leber Hereditary Optic Neuropathy
Feuer, W. J., Schiffman, J. C., Davis, J. L., Porciatti, V., Gonzalez, P., Koilkonda, R. D., Yuan, H., Lalwani, A., Lam, B. L., & Guy, J. (2016) · Ophthalmology · doi:10.1016/j.ophtha.2015.10.025 · Cited by 230 · see citing works
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Akbari, M., Kirkwood, T. B. L., & Bohr, V. A. (2019) · Ageing Research Reviews · doi:10.1016/j.arr.2019.100940 · Cited by 232 · see citing works
Pathophysiology of endotoxin tolerance: mechanisms and clinical consequences
López‐Collazo, E., & del Fresno, C. (2013) · Critical Care · doi:10.1186/cc13110 · Cited by 224 · see citing works
Mitonuclear interactions: evolutionary consequences over multiple biological scales
Wolff, J. N., Ladoukakis, E. D., Enrı́quez, J. A., & Dowling, D. K. (2014) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2013.0443 · Cited by 222 · see citing works
Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs
Kang, E., Wang, X., Tippner-Hedges, R., Ma, H., Folmes, C. D. L., Gutiérrez, N. M., Lee, Y., Dyken, C. V., Ahmed, R., Li, Y., et al. (2016) · Cell stem cell · doi:10.1016/j.stem.2016.02.005 · Cited by 216 · see citing works
Mechanisms of replication and repair in mitochondrial DNA deletion formation
Fontana, G. A., & Gahlon, H. L. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa804 · Cited by 209 · see citing works
Truban, D., Hou, X., Caulfield, T. R., Fiesel, F. C., & Springer, W. (2016) · Journal of Parkinson’s Disease · doi:10.3233/jpd-160989 · Cited by 237 · see citing works
Cancer as a mitochondrial metabolic disease
Seyfried, T. N. (2015) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2015.00043 · Cited by 202 · see citing works
Mitochondria, Metabolism, and Redox Mechanisms in Psychiatric Disorders
Kim, Y., Vadodaria, K. C., Lenkei, Z., Kato, T., Gage, F. H., Marchetto, M. C., & Santos, R. (2018) · Antioxidants and Redox Signaling · doi:10.1089/ars.2018.7606 · Cited by 189 · see citing works
Polar Body Genome Transfer for Preventing the Transmission of Inherited Mitochondrial Diseases
Wang, T., Sha, H., Ji, D., Zhang, H. L., Chen, D., Cao, Y., & Zhu, J. (2014) · Cell · doi:10.1016/j.cell.2014.04.042 · Cited by 181 · see citing works
MtDNA‐maintenance defects: syndromes and genes
Viscomi, C. F., & Zeviani, M. (2017) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-017-0027-5 · Cited by 180 · see citing works
Independent impacts of aging on mitochondrial DNA quantity and quality in humans
Zhang, R., Wang, Y., Ye, K., Picard, M. A., & Gu, Z. (2017) · BMC Genomics · doi:10.1186/s12864-017-4287-0 · Cited by 174 · see citing works
Mitochondrial disease: genetics and management
Ng, Y. S., & Turnbull, D. M. (2015) · Journal of Neurology · doi:10.1007/s00415-015-7884-3 · Cited by 173 · see citing works
TALE and TALEN genome editing technologies
Becker, S., & Boch, J. (2021) · Gene and Genome Editing · doi:10.1016/j.ggedit.2021.100007 · Cited by 175 · see citing works
Mitochondria, OxPhos, and neurodegeneration: cells are not just running out of gas
Área-Gómez, E., Guardia‐Laguarta, C., Schon, E. A., & Przedborski, S. (2019) · Journal of Clinical Investigation · doi:10.1172/jci120848 · Cited by 169 · see citing works
Self-citationWu, S., Wu, Y., Wu, T.-P., & Wei, Y. (2013) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2013.10.034 · Cited by 159 · see citing works
Maternal ancestry and population history from whole mitochondrial genomes
Kivisild, T. (2015) · Investigative Genetics · doi:10.1186/s13323-015-0022-2 · Cited by 155 · see citing works
Mitochondrial DNA editing in mice with DddA-TALE fusion deaminases
Lee, H., Lee, S., Baek, G., Kim, A., Kang, B., Seo, H., & Kim, J. (2021) · Nature Communications · doi:10.1038/s41467-021-21464-1 · Cited by 154 · see citing works
Kung, H., Lin, K.-J., Kung, C., & Lin, T. (2021) · Biomedicines · doi:10.3390/biomedicines9080918 · Cited by 160 · see citing works
Maintaining Ancient Organelles
Vega, R. B., Horton, J. L., & Kelly, D. P. (2015) · Circulation Research · doi:10.1161/circresaha.116.305420 · Cited by 146 · see citing works
Won, J.-H., Park, S., Hong, S., Son, S., & Yu, J.-W. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m115.667063 · Cited by 142 · see citing works
Mitochondrial oxidative DNA damage and exposure to particulate air pollution in mother-newborn pairs
Grevendonk, L., Janssen, B. G., Vanpoucke, C., Lefebvre, W., Hoxha, M., Bollati, V., & Nawrot, T. S. (2016) · Environmental Health · doi:10.1186/s12940-016-0095-2 · Cited by 145 · see citing works
“Besides metabolic disorders, the stochastic accumulation of mtDNA mutations encompasses the pathophysiological basis of disease processes including aging, neurodegenerative diseases, and cancer [38].”
BackgroundCao, J., Zheng, Y., Wu, X.-W., Tan, C., Chen, M., Wu, N., Ji, L., & Mao, Z. (2019) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.8b01704 · Cited by 141 · see citing works
Polycystic Ovary Syndrome and Oxidative Stress—From Bench to Bedside
Żeber‐Lubecka, N., Ciebiera, M., & Hennig, E. E. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241814126 · Cited by 140 · see citing works
Mitochondrial DNA: the overlooked oncogenome?
Gammage, P. A., & Frezza, C. (2019) · BMC Biology · doi:10.1186/s12915-019-0668-y · Cited by 140 · see citing works
Pagano, G., Talamanca, A. A., Castello, G., Cordero, M. D., d’Ischia, M., Gadaleta, M. N., Pallardó, F. V., Petrović, S. Ž., Tiano, L., & Zatterale, A. (2014) · Oxidative Medicine and Cellular Longevity · doi:10.1155/2014/541230 · Cited by 137 · see citing works
Molecular biomarkers of depression
Gururajan, A., Clarke, G. A., Dinan, T. G., & Cryan, J. F. (2016) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2016.02.011 · Cited by 134 · see citing works
Selective mitochondrial DNA degradation following double-strand breaks
Moretton, A., Morel, F., Macao, B., Lachaume, P., Ishak, L., Lefebvre, M., Garreau-Balandier, I., Vernet, P., Falkenberg, M., & Farge, G. (2017) · PLoS ONE · doi:10.1371/journal.pone.0176795 · Cited by 129 · see citing works
Folate-mediated one-carbon metabolism: a targeting strategy in cancer therapy
Yang, C., Zhang, J., Liao, M., Yang, Y., Wang, Y., Yuan, Y., & Ouyang, L. (2020) · Drug Discovery Today · doi:10.1016/j.drudis.2020.12.006 · Cited by 126 · see citing works
Shu, L., Hu, C., Xu, M., Yu, J., He, H., Lin, J., Sha, H., Lü, B., Engelender, S., Guan, M., et al. (2021) · The EMBO Journal · doi:10.15252/embj.2020106283 · Cited by 124 · see citing works
Association of G-quadruplex forming sequences with human mtDNA deletion breakpoints
Dong, D.-W. W., Pereira, F., Barrett, S. P., Kolesar, J., Cao, K.-J., Damas, J., Yatsunyk, L., Johnson, F., & Kaufman, B. A. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-677 · Cited by 116 · see citing works
Mitochondrial DNA: Impacting Central and Peripheral Nervous Systems
Carelli, V., & Chan, D. C. (2014) · Neuron · doi:10.1016/j.neuron.2014.11.022 · Cited by 127 · see citing works
Mitochondrial Dysfunction in Migraine
Yorns, W. R., & Hardison, H. H. (2013) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2013.09.002 · Cited by 125 · see citing works
Modjtahedi, N., Tokatlidis, K., Dessen, P., & Kroemer, G. (2016) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2015.12.004 · Cited by 122 · see citing works
Endurance Exercise and the Regulation of Skeletal Muscle Metabolism
Booth, F. W., Ruegsegger, G. N., Toedebusch, R. G., & Yan, Z. (2015) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2015.07.016 · Cited by 125 · see citing works
Fakruddin, M., Wei, F., Suzuki, T., Asano, K., Kaieda, T., Omori, A., Izumi, R., Fujimura, A., Kaitsuka, T., Miyata, K., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2017.12.051 · Cited by 121 · see citing works
Aryaman, J., Johnston, I. G., & Jones, N. S. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2018.00718 · Cited by 121 · see citing works
Disease progression in patients with single, large-scale mitochondrial DNA deletions
Grady, J. P., Campbell, G. R., Ratnaike, T. E., Blakely, E. L., Falkous, G., Nesbitt, V., Schaefer, A. M., McNally, R., Gorman, G. S., Taylor, R. W., et al. (2013) · Brain · doi:10.1093/brain/awt321 · Cited by 118 · see citing works
Modifying the Mitochondrial Genome
Patananan, A. N., Wu, T., Chiou, P.-Y. E., & Teitell, M. A. (2016) · Cell Metabolism · doi:10.1016/j.cmet.2016.04.004 · Cited by 117 · see citing works
Endocrine disorders in mitochondrial disease
Schaefer, A. M., Walker, M., Turnbull, D. M., & Taylor, R. W. (2013) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2013.06.004 · Cited by 116 · see citing works
Mitochondria on the move: Horizontal mitochondrial transfer in disease and health
Dong, L., Rohlena, J., Zobalová, R., Nahácka, Z., Rodriguez, A., Berridge, M. V., & Neužil, J. (2023) · The Journal of Cell Biology · doi:10.1083/jcb.202211044 · Cited by 116 · see citing works
An overview of mammalian mitochondrial DNA replication mechanisms
Yasukawa, T., & Kang, D. (2018) · The Journal of Biochemistry · doi:10.1093/jb/mvy058 · Cited by 112 · see citing works
Spectrum of combined respiratory chain defects
Mayr, J., Haack, T., Freisinger, P., Karall, D., Makowski, C., Koch, J., Feichtinger, R., Zimmermann, F., Rolinski, B., Ahting, U., et al. (2015) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-015-9831-y · Cited by 114 · see citing works
mtDNA Heteroplasmy: Origin, Detection, Significance, and Evolutionary Consequences
Parakatselaki, M.-E., & Ladoukakis, E. D. (2021) · Life · doi:10.3390/life11070633 · Cited by 106 · see citing works
Forkink, M., Manjeri, G. R., Liemburg-Apers, D. C., Nibbeling, E. A. R., Blanchard, M. G., Wojtala, A., Smeitink, J. A. M., Wieckowski, M. R., Willems, P. H. G. M., & Koopman, W. J. H. (2014) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2014.04.008 · Cited by 106 · see citing works
HIV Treatment and Associated Mitochondrial Pathology
Gardner, K., Hall, P. A., Chinnery, P. F., & Payne, B. A. I. (2013) · Toxicologic Pathology · doi:10.1177/0192623313503519 · Cited by 103 · see citing works
Iommarini, L., Kurelac, I., Capristo, M., Calvaruso, M. A., Giorgio, V., Bergamini, C., Ghelli, A. M., Nanni, P., Giovanni, C. D., Carelli, V., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt533 · Cited by 101 · see citing works
Mitochondrial dysfunction and pulmonary hypertension: cause, effect, or both
Marshall, J. D., Bazan, I. S., Zhang, Y., Fares, W. H., & Lee, P. J. (2018) · American Journal of Physiology-Lung Cellular and Molecular Physiology · doi:10.1152/ajplung.00331.2017 · Cited by 100 · see citing works
Bhargava, A., Tamrakar, S., Aglawe, A., Lad, H., Srivastava, R. K., Mishra, D. K., Tiwari, R. R., Chaudhury, K., Goryacheva, I. Y., & Mishra, P. K. (2017) · Environmental Pollution · doi:10.1016/j.envpol.2017.11.093 · Cited by 99 · see citing works
Mitochondrial DNA mutations and breast tumorigenesis
Yadav, N., & Chandra, D. (2013) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2013.10.002 · Cited by 96 · see citing works
Hyder, F., Hermán, P., Bailey, C. J., Møller, A., Globinsky, R., Fulbright, R. K., Rothman, D. L., & GJEDDE, A. H. (2016) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1177/0271678x15625349 · Cited by 97 · see citing works
Ferreira, R. M., Chiaratti, M. R., Macabelli, C. H., Rodrigues, C. A., Ferraz, M. L., Watanabe, Y. F., Smith, L. C., Meirelles, F. V., & Baruselli, P. S. (2016) · Biology of Reproduction · doi:10.1095/biolreprod.115.133017 · Cited by 97 · see citing works
Barrera, G., Gentile, F., Pizzimenti, S., Canuto, R. A., Daga, M., Arcaro, A., Cetrangolo, G. P., Lepore, A., Ferretti, C., Dianzani, C., et al. (2016) · Antioxidants · doi:10.3390/antiox5010007 · Cited by 95 · see citing works
Fu, Z., Ye, J., Dean, J. W., Bostick, J. W., Weinberg, S. E., Xiong, L., Oliff, K. N., Chen, Z. E., Avram, D., Chandel, N. S., et al. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.06.024 · Cited by 94 · see citing works
Twisted intramolecular charge transfer (TICT) based fluorescent probes and imaging agents
Wu, Y., Wang, H.-M., Hu, X., Zang, Y., Li, J. X., Han, H., He, X., Lewis, S. E., Ismail, H. M., & James, T. D. (2025) · Chemical Society Reviews · doi:10.1039/d3cs01118f · Cited by 95 · see citing works
Mitochondrial and metabolic alterations in cancer cells
Gregorio, J. D., Petricca, S., Iorio, R., Toniato, E., & Flati, V. (2022) · European Journal of Cell Biology · doi:10.1016/j.ejcb.2022.151225 · Cited by 93 · see citing works
Evolutionary perspectives on the links between mitochondrial genotype and disease phenotype
Dowling, D. K. (2013) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2013.11.013 · Cited by 92 · see citing works
Joseph, B., Corwin, J., Li, B., Atwell, S., & Kliebenstein, D. J. (2013) · eLife · doi:10.7554/elife.00776 · Cited by 87 · see citing works
Gunnewiek, T. M. K., van Hugte, E., Frega, M., Guardia, G. S., Foreman, K., Panneman, D. M., Mossink, B., Linda, K., Keller, J. M., Schubert, D., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.107538 · Cited by 90 · see citing works
Mitochondrial dysfunction: a neglected component of skin diseases
Feichtinger, R. G., Sperl, W., Bauer, J. W., & Kofler, B. (2014) · Experimental Dermatology · doi:10.1111/exd.12484 · Cited by 90 · see citing works
The role of mitochondria in rheumatic diseases
Becker, Y. L. C., Duvvuri, B., Fortin, P. R., Lood, C., & Boilard, E. (2022) · Nature Reviews Rheumatology · doi:10.1038/s41584-022-00834-z · Cited by 81 · see citing works
Mitochondrial Chemical Biology: New Probes Elucidate the Secrets of the Powerhouse of the Cell
Wisnovsky, S., Lei, E. K., Jean, S. R., & Kelley, S. O. (2016) · Cell chemical biology · doi:10.1016/j.chembiol.2016.06.012 · Cited by 88 · see citing works
Mitochondrial diseases caused by mtDNA mutations: a mini-review
Ryzhkova, A. I., Sazonova, M. A., Sinyov, V. V., Валерьевна, Г. Е., Chicheva, M. M., Melnichenko, A. А., Grechko, A. V., Postnov, A. Y., Orekhov, A. N., & Shkurat, T. P. (2018) · Therapeutics and Clinical Risk Management · doi:10.2147/tcrm.s154863 · Cited by 88 · see citing works
Mitochondrial dysfunction: An emerging link in the pathophysiology of polycystic ovary syndrome
Shukla, P., & Mukherjee, S. (2020) · Mitochondrion · doi:10.1016/j.mito.2020.02.006 · Cited by 88 · see citing works
Cagnone, G., Tsai, T., Makanji, Y., Matthews, P., Gould, J. A., Bonkowski, M. S., Elgass, K., Wong, A. S. A., Wu, L. E., McKenzie, M., et al. (2016) · Scientific Reports · doi:10.1038/srep23229 · Cited by 88 · see citing works
The Landscape of mtDNA Modifications in Cancer: A Tale of Two Cities
Hertweck, K. L., & Dasgupta, S. (2017) · Frontiers in Oncology · doi:10.3389/fonc.2017.00262 · Cited by 87 · see citing works
The role of mitochondrial reactive oxygen species in cartilage matrix destruction
Reed, K. N., Wilson, G. L., Pearsall, A. W., & Grishko, V. I. (2014) · Molecular and Cellular Biochemistry · doi:10.1007/s11010-014-2187-z · Cited by 84 · see citing works
- Authors
- Schon, E. A., DiMauro, S., & Hirano, M.
- Affiliations
- Columbia University Irving Medical Center (US)
- Corresponding author
- Schon, Eric A.
- ORCID
- Hirano, Michio
- Venue
- Nature Reviews Genetics
- Published
- 2012-11-16
- Volume
- 13
- Issue
- 12
- Pages
- 878-890
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- PMC
- PMC3959762
- OpenAlex
- W1968408636
- Cited by
- 757
- References
- 150
- Citations by year
- 2026: 34 · 2025: 34 · 2024: 53 · 2023: 39 · 2022: 54 · 2021: 65 · 2020: 70 · 2019: 53 · 2018: 72 · 2017: 43 · 2016: 72 · 2015: 60 · 2014: 62 · 2013: 46
- FWCI
- 4.90
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- U.S. Department of Defense
- Alzheimer's Drug Discovery Foundation
- National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD32062, P01HD032062)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Keywords
- mitochondrial DNA mutations, primary mitochondrial disease, somatic mtDNA mutations, oxidative phosphorylation defects, neurodegeneration, aging, cancer, complex traits, mitochondrial genome
- MeSH terms
- Aging, DNA, Mitochondrial, Electron Transport, Humans, Models, Biological, Models, Genetic, Mutation, Neoplasms, Oxidative Phosphorylation, Germ-Line Mutation, Heredodegenerative Disorders, Nervous System, Mitochondrial Diseases, Genome, Mitochondrial
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