Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

LAEMMLI, U. K. (1970) · Nature · doi:10.1038/227680a0 · Cited by 249,961

Basic Methods in Molecular Biology

(1986) · Elsevier eBooks · doi:10.1016/b978-0-444-01082-7.x5001-2 · Cited by 3,163

Positional Cloning of the Werner's Syndrome Gene

Yu, C., Oshima, J., Fu, Y., Wijsman, E. M., Hisama, F. M., Alisch, R. S., Matthews, S., Nakura, J., Miki, T., Ouais, S. G., et al. (1996) · Science · doi:10.1126/science.272.5259.258 · Cited by 1,705

Extrachromosomal rDNA circles—a cause of aging in yeast

Sinclair, D. A., & Guarente, L. (1997) · Cell · doi:10.1016/s0092-8674(00)80493-6 · Cited by 1,500

Replication of animal mitochondrial DNA

Clayton, D. A. (1982) · Cell · doi:10.1016/0092-8674(82)90049-6 · Cited by 1,243

Crystal structure of a bacteriophage T7 DNA replication complex at 2.2 Å resolution

Doublié, S., Tabor, S., Long, A. M., Richardson, C. C., & Ellenberger, T. (1998) · Nature · doi:10.1038/34593 · Cited by 1,184

The I.M.A.G.E. Consortium: An Integrated Molecular Analysis of Genomes and Their Expression

Lennon, G., Auffray, C., Polymeropoulos, M. H., & Soares, M. B. (1996) · Genomics · doi:10.1006/geno.1996.0177 · Cited by 1,123

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

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Van Goethem, G., Dermaut, B., Löfgren, A., Martin, J.-J., & Van Broeckhoven, C. (2001) · Nature Genetics · doi:10.1038/90034 · Cited by 841

Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells

Robin, E. D., & Wong, R. J. (1988) · Journal of Cellular Physiology · doi:10.1002/jcp.1041360316 · Cited by 660

Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy

Palmieri, L., Alberio, S., Pisano, I., Lodi, T., Meznarič, M., Zidar, J., Santoro, A., Scarcia, P., Fontanesi, F., Lamantea, E., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi341 · Cited by 185

Mechanisms of mitochondrial diseases

Ylikallio, E., & Suomalainen, A. (2011) · Annals of Medicine · doi:10.3109/07853890.2011.598547 · Cited by 197

The ever-growing complexity of the mitochondrial fission machinery

Pagliuso, A., Cossart, P., & Stavru, F. (2017) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-017-2603-0 · Cited by 192

Human Dna2 Is a Nuclear and Mitochondrial DNA Maintenance Protein

Duxin, J. P., Dao, B., Martinsson, P., Rajala, N. K. M., Guittat, L., Campbell, J. L., Spelbrink, J. N., & Stewart, S. A. (2009) · Molecular and Cellular Biology · doi:10.1128/mcb.01834-08 · Cited by 178

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A Disease of Two Genomes

Hirano, M., Nishigaki, Y., & Martí, R. (2004) · The Neurologist · doi:10.1097/01.nrl.0000106919.06469.04 · Cited by 181

Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases

DeBalsi, K. L., Hoff, K. E., & Copeland, W. C. (2017) · Ageing Research Reviews · doi:10.1016/j.arr.2016.04.006 · Cited by 180

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 184

Evidence for a two membrane–spanning autonomous mitochondrial DNA replisome

Meeusen, S., & Nunnari, J. M. (2003) · The Journal of Cell Biology · doi:10.1083/jcb.200304040 · Cited by 177

Mice with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypes

Kasahara, T., Kubota, M., Miyauchi, T., Noda, Y., Mouri, A., Nabeshima, T., & Kato, T. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001824 · Cited by 178

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion

Sarzi, E., Goffart, S., Serre, V., Chrétien, D., Slama, A., Münnich, A., Spelbrink, J. N., & Rötig, A. (2007) · Annals of Neurology · doi:10.1002/ana.21207 · Cited by 174

Functional organization of mammalian mitochondrial DNA in nucleoids: history, recent developments, and future challenges

Spelbrink, J. N. (2010) · IUBMB Life · doi:10.1002/iub.282 · Cited by 171

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

Milenkovic, D., Matic, S., Kuhl, I., Ruzzenente, B., Freyer, C., Jemt, E., Park, C. B., Falkenberg, M., & Larsson, N.-G. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt051 · Cited by 173

A hybrid G-quadruplex structure formed between RNA and DNA explains the extraordinary stability of the mitochondrial R-loop

Wanrooij, P. H., Uhler, J. P., Shi, Y., Westerlund, F., Falkenberg, M., & Gustafsson, C. M. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks802 · Cited by 172

Detection of mitochondrial DNA depletion in living human cells using PicoGreen staining

Ashley, N., Harris, D., & Poulton, J. (2004) · Experimental Cell Research · doi:10.1016/j.yexcr.2004.10.013 · Cited by 170

Mitochondrial DNA replication in mammalian cells: overview of the pathway

Falkenberg, M. (2018) · Essays in Biochemistry · doi:10.1042/ebc20170100 · Cited by 186

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

Ostergaard, E., Hansen, F. J., Sorensen, N., Duno, M., Vissing, J., Larsen, P. L., Faeroe, O., Thorgrimsson, S., Wibrand, F., Christensen, E., et al. (2007) · Brain · doi:10.1093/brain/awl383 · Cited by 188

Mitochondrial biogenesis in the axons of vertebrate peripheral neurons

Amiri, M., & Hollenbeck, P. J. (2008) · Developmental Neurobiology · doi:10.1002/dneu.20668 · Cited by 165

Defects in mitochondrial DNA replication and human disease

Copeland, W. C. (2011) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.3109/10409238.2011.632763 · Cited by 176

Mitochondrial encephalomyopathies: an update

DiMauro, S., & Hirano, M. (2005) · Neuromuscular Disorders · doi:10.1016/j.nmd.2004.12.008 · Cited by 162

Mitochondria

Chinnery, P. F. (2003) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.74.9.1188 · Cited by 160

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

Goethem, G. V., Schwartz, M., Löfgren, A., Dermaut, B., Broeckhoven, C. V., & Vissing, J. (2003) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201002 · Cited by 161

Active Site Mutation in DNA Polymerase γ Associated with Progressive External Ophthalmoplegia Causes Error-prone DNA Synthesis

Ponamarev, M. V., Longley, M. J., Nguyen, D., Kunkel, T. A., & Copeland, W. C. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.c200100200 · Cited by 156

Human Mitochondrial DNA ReplicationPreprint

Holt, I. J., & Reyes, A. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a012971 · Cited by 155

Mutations of ANT1 , Twinkle , and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

Agostino, A., Valletta, L., Chinnery, P. F., Ferrari, G., Carrara, F., Taylor, R. W., Schaefer, A. M., Turnbull, D. M., Tiranti, V., & Zeviani, M. (2003) · Neurology · doi:10.1212/01.wnl.0000056088.09408.3c · Cited by 153

Overexpression of TFAM or twinkle increases mtDNA copy number and facilitates cardioprotection associated with limited mitochondrial oxidative stress

Ikeda, M., Ide, T., Fujino, T., Arai, S., Saku, K., Kakino, T., Tyynismaa, H., Yamasaki, T., Yamada, K.-I., Kang, D., et al. (2015) · PLOS ONE · doi:10.1371/journal.pone.0119687 · Cited by 152

Mitochondrial biogenesis and turnover

Diaz, F., & Moraes, C. T. (2008) · Cell Calcium · doi:10.1016/j.ceca.2007.12.004 · Cited by 156

Genetic insights into OXPHOS defect and its role in cancer

Chandra, D., & Singh, K. K. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2010.10.023 · Cited by 155

Mammalian mitochondrial nucleoids: Organizing an independently minded genome

Holt, I. J., He, J., Mao, C.-C., Boyd-Kirkup, J. D., Martinsson, P., Sembongi, H., Reyes, A., & Spelbrink, J. N. (2007) · Mitochondrion · doi:10.1016/j.mito.2007.06.004 · Cited by 149

Single-Molecule Analysis of mtDNA Replication Uncovers the Basis of the Common Deletion

Phillips, A. F., Millet, A. R., Tigano, M., Dubois, S. M., Crimmins, H., Babin, L., Charpentier, M., Piganeau, M., Brunet, E., & Sfeir, A. J. (2017) · Molecular Cell · doi:10.1016/j.molcel.2016.12.014 · Cited by 147

Expression of catalytic mutants of the mtDNA helicase twinkle and polymerase POLG causes distinct replication stalling phenotypes

Wanrooij, S., Goffart, S., Pohjoismäki, J. L. O., Yasukawa, T., & Spelbrink, J. N. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm215 · Cited by 148

In Vivo Occupancy of Mitochondrial Single-Stranded DNA Binding Protein Supports the Strand Displacement Mode of DNA Replication

Fusté, J. M., Shi, Y., Wanrooij, S., Zhu, X., Jemt, E., Persson, Ö., Sabouri, N., Gustafsson, C. M., & Falkenberg, M. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004832 · Cited by 148

Consequences of mutations in human DNA polymerase γ

Longley, M. J., Graziewicz, M. A., Bienstock, R. J., & Copeland, W. C. (2005) · Gene · doi:10.1016/j.gene.2005.03.029 · Cited by 141

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

Goffart, S., Cooper, H. M., Tyynismaa, H., Wanrooij, S., Suomalainen, A., & Spelbrink, J. N. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddn359 · Cited by 138

Lactic acidemia and mitochondrial disease

ROBINSON, B. (2006) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2006.05.015 · Cited by 137

High mitochondrial DNA copy number has detrimental effects in mice

Ylikallio, E., Tyynismaa, H., Tsutsui, H., Ide, T., & Suomalainen, A. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq163 · Cited by 136

Genome-wide comprehensive analysis of human helicases

Umate, P., Tuteja, N., & Tuteja, R. (2011) · Communicative & Integrative Biology · doi:10.4161/cib.13844 · Cited by 137

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion

Hakonen, A. H., Goffart, S., Marjavaara, S. K., Paetau, A. E., Cooper, H., Mattila, K., Lampinen, M., Sajantila, A., Lönnqvist, T. R. I., Spelbrink, J. N., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn280 · Cited by 135

M itochondrial DNA and primary mitochondrial dysfunction in P arkinson's disease

Giannoccaro, M. P., Morgia, C. L., Rizzo, G., & Carelli, V. (2017) · Movement Disorders · doi:10.1002/mds.26966 · Cited by 137

Mitochondrial abnormalities in inclusion-body myositis

Oldfors, A., Moslemi, A. ‐., Jonasson, L., Ohlsson, M., Kollberg, G., & Lindberg, C. (2006) · Neurology · doi:10.1212/01.wnl.0000192127.63013.8d · Cited by 135

The neurology of mitochondrial DNA disease

McFarland, R., Taylor, R. W., & Turnbull, D. M. (2002) · The Lancet Neurology · doi:10.1016/s1474-4422(02)00159-x · Cited by 134

Mitochondrial disease in adults: what's old and what's new?

Chinnery, P. F. (2015) · EMBO Molecular Medicine · doi:10.15252/emmm.201505079 · Cited by 133

Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia

Graziewicz, M. A., Longley, M. J., Bienstock, R. J., Zeviani, M., & Copeland, W. C. (2004) · Nature Structural & Molecular Biology · doi:10.1038/nsmb805 · Cited by 131

Treatment for mitochondrial disorders

Chinnery, P. F., Majamaa, K., Turnbull, D. M., & Thorburn, D. R. (2006) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd004426.pub2 · Cited by 129

The human mitochondrial replication fork in health and disease

Wanrooij, S., & Falkenberg, M. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2010.04.015 · Cited by 127

mtDNA makes a U-turn for the mitochondrial nucleoid

Kukat, C., & Larsson, N. (2013) · Trends in Cell Biology · doi:10.1016/j.tcb.2013.04.009 · Cited by 128

Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases

Udhayabanu, T., Manole, A., Rajeshwari, M., Varalakshmi, P., Houlden, H., & Ashokkumar, B. (2017) · Journal of Clinical Medicine · doi:10.3390/jcm6050052 · Cited by 128

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA

Wanrooij, S. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh634 · Cited by 127

Association of G-quadruplex forming sequences with human mtDNA deletion breakpoints

Dong, D. W., Pereira, F., Barrett, S. P., Kolesar, J. E., Cao, K., Damas, J., Yatsunyk, L. A., Johnson, F. B., & Kaufman, B. A. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-677 · Cited by 123

Mitochondrial genome deletions and minicircles are common in lice (Insecta: Phthiraptera)

Cameron, S. L., Yoshizawa, K., Mizukoshi, A., Whiting, M. F., & Johnson, K. P. (2011) · BMC Genomics · doi:10.1186/1471-2164-12-394 · Cited by 122

Proximity Biotinylation as a Method for Mapping Proteins Associated with mtDNA in Living Cells

Han, S., Udeshi, N. D., Deerinck, T. J., Svinkina, T., Ellisman, M. H., Carr, S. A., & Ting, A. Y. (2017) · Cell chemical biology · doi:10.1016/j.chembiol.2017.02.002 · Cited by 131

Tissue specific differences in mitochondrial DNA maintenance and expression

Herbers, E., Kekäläinen, N. J., Hangas, A., Pohjoismäki, J. L., & Goffart, S. (2019) · Mitochondrion · doi:10.1016/j.mito.2018.01.004 · Cited by 121

Mitochondrial genetics

Fragouli, E. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-816561-4.00009-0 · Cited by 122

Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase γ

Lewis, W., Day, B. J., Kohler, J. J., Hosseini, S. H., Chan, S. S. L., Green, E. C., Haase, C. P., Keebaugh, E. S., Long, R., Ludaway, T., et al. (2007) · Laboratory Investigation · doi:10.1038/labinvest.3700523 · Cited by 121

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

Tyynismaa, H., Ylikallio, E., Patel, M. D., Molnár, M. J., Haller, R. G., & Suomalainen, A. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.07.009 · Cited by 121

Replication and Transcription of Human Mitochondrial DNA

Falkenberg, M., Larsson, N., & Gustafsson, C. M. (2024) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-052621-092014 · Cited by 129

Deoxyribonucleotide Pool Imbalance Stimulates Deletions in HeLa Cell Mitochondrial DNA

Song, S., Wheeler, L. J., & Mathews, C. K. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.c300401200 · Cited by 120

Oxidative phosphorylation-dependent regulation of cancer cell apoptosis in response to anticancer agents

Yadav, N., Kumar, S., Marlowe, T. A., Chaudhary, A. K., Kumar, R., Wang, J., O’Malley, J., Boland, P. M., Jayanthi, S., Kumar, T. K. S., et al. (2015) · Cell Death and Disease · doi:10.1038/cddis.2015.305 · Cited by 125

The mitochondrial theory of aging: dead or alive?

Jacobs, H. T. (2003) · Aging Cell · doi:10.1046/j.1474-9728.2003.00032.x · Cited by 117

Clinical and Genetic Heterogeneity in Progressive External Ophthalmoplegia Due to Mutations in Polymerase γ

Filosto, M., Mancuso, M., Nishigaki, Y., Pancrudo, J., Harati, Y., Gooch, C. L., Mankodi, A. K., Bayne, L. L., Bonilla, E., Shanske, S., et al. (2003) · Archives of Neurology · doi:10.1001/archneur.60.9.1279 · Cited by 118

Disorders of nuclear-mitochondrial intergenomic signaling

Spinazzola, A., & Zeviani, M. (2005) · Gene · doi:10.1016/j.gene.2005.03.025 · Cited by 118

POS5 Gene of Saccharomyces cerevisiae Encodes a Mitochondrial NADH Kinase Required for Stability of Mitochondrial DNA

Strand, M. K., Stuart, G. R., Longley, M. J., Graziewicz, M. A., Dominick, O. C., & Copeland, W. C. (2003) · Eukaryotic Cell · doi:10.1128/ec.2.4.809-820.2003 · Cited by 118

Mitochondrial DNA 3644T→C mutation associated with bipolar disorder

Munakata, K., Tanaka, M., Mori, K., Washizuka, S., Yoneda, M., Tajima, O., Akiyama, T., Nanko, S., Kunugi, H., Tadokoro, K., et al. (2004) · Genomics · doi:10.1016/j.ygeno.2004.08.015 · Cited by 113

Mitochondrial Dysfunction as the Molecular Basis of Bipolar Disorder

Kato, T. (2007) · CNS Drugs · doi:10.2165/00023210-200721010-00001 · Cited by 114

The control of mtDNA replication during differentiation and development

John, J. C. S. (2013) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2013.10.036 · Cited by 113

Maintenance of mitochondrial DNA integrity: repair and degradation

Kang, D., & Hamasaki, N. (2002) · Current Genetics · doi:10.1007/s00294-002-0312-0 · Cited by 112

Twinkle, the Mitochondrial Replicative DNA Helicase, Is Widespread in the Eukaryotic Radiation and May Also Be the Mitochondrial DNA Primase in Most Eukaryotes

Shutt, T. E., & Gray, M. W. (2006) · Journal of Molecular Evolution · doi:10.1007/s00239-005-0162-8 · Cited by 111

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

Rosa, I. D., Cámara, Y., Durigon, R., Moss, C. F., Vidoni, S., Akman, G., Hunt, L., Johnson, M. A., Grocott, S., Wang, L., et al. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1005779 · Cited by 111

The transcription machinery in mammalian mitochondria

Gaspari, M., Larsson, N., & Gustafsson, C. M. (2004) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2004.10.003 · Cited by 111

Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome

Luoma, P. T., Luo, N., Löscher, W. N., Farr, C. L., Horváth, R., Wanschitz, J., Kiechl, S. J., Kaguni, L. S., & Suomalainen, A. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi196 · Cited by 113

Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA

Hirano, M., Marti, R., Ferreiro-Barros, C., Vilà, M. R., Tadesse, S., Nishigaki, Y., Nishino, I., & Vu, T. H. (2001) · Seminars in Cell & Developmental Biology · doi:10.1006/scdb.2001.0279 · Cited by 109

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene

Siciliano, G., Tessa, A., Petrini, S., Mancuso, M., Bruno, C., Grieco, G. S., Malandrini, A., DeFlorio, L., Martini, B., Federico, A., et al. (2003) · Neuromuscular Disorders · doi:10.1016/s0960-8966(02)00221-3 · Cited by 111

Replication of mitochondrial DNA occurs throughout the mitochondria of cultured human cells

Magnusson, J. (2003) · Experimental Cell Research · doi:10.1016/s0014-4827(03)00249-0 · Cited by 109

Mitophagy plays a central role in mitochondrial ageing

Diot, A., Morten, K., & Poulton, J. (2016) · Mammalian Genome · doi:10.1007/s00335-016-9651-x · Cited by 112

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

Morino, H., Pierce, S. B., Matsuda, Y., Walsh, T., Ohsawa, R., Newby, M., Hiraki-Kamon, K., Kuramochi, M., Lee, M. K., Klevit, R. E., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000001036 · Cited by 107

Multisystem manifestations of mitochondrial disorders

Donato, S. D. (2009) · Journal of Neurology · doi:10.1007/s00415-009-5028-3 · Cited by 108

Human Mitochondrial DNA-Protein Complexes Attach to a Cholesterol-Rich Membrane Structure

Gerhold, J. M., Cansız-Arda, Ş., Lõhmus, M., Engberg, O., Reyes, A., van Rennes, H., Sanz, A., Holt, I. J., Cooper, H. M., & Spelbrink, J. N. (2015) · Scientific Reports · doi:10.1038/srep15292 · Cited by 110

The role played by viruses in the evolution of their hosts: a view based on informational protein phylogenies

Filée, J., Forterre, P., & Laurent, J. (2003) · Research in Microbiology · doi:10.1016/s0923-2508(03)00066-4 · Cited by 106

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Ronchi, D., Garone, C., Bordoni, A., Ríos, P. G., Calvo, S. E., Ripolone, M., Ranieri, M., Rizzuti, M., Villa, L., Magri, F., et al. (2012) · Brain · doi:10.1093/brain/aws258 · Cited by 104

Mouse models of mitochondrial DNA defects and their relevance for human disease

Tyynismaa, H., & Suomalainen, A. (2009) · EMBO Reports · doi:10.1038/embor.2008.242 · Cited by 105

ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy

Nishigaki, Y. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddh010 · Cited by 101

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

Tyynismaa, H., Sun, R. X., Ahola, S., Almusa, H., Pöyhönen, R., Korpela, M., Honkaniemi, J., Isohanni, P., Paetau, A. E., Wang, L., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr438 · Cited by 99

Expanding the genotypic spectrum of Perrault syndrome

Demain, L. A. M., Urquhart, J. E., O’Sullivan, J., Williams, S. G., Bhaskar, S. S., Jenkinson, E. M., Lourenço, C. M., Heiberg, A., Pearce, S. H. S., Shalev, S. A., et al. (2016) · Clinical Genetics · doi:10.1111/cge.12776 · Cited by 98

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

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Theunissen, T. E. J., Nguyen, M. K., Kamps, R., Hendrickx, A. T. M., Sallevelt, S. C. E. H., Gottschalk, R. W. H., Calis, C., Stassen, A. P. M., de Koning, B., Hartog, E. N. M. M.-D., et al. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00400 · Cited by 98

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

Fonzo, A. D., Bordoni, A., Crimi, M., Galbiati, S., Bo, R. D., Bresolin, N., & Comi, G. P. (2003) · Human Mutation · doi:10.1002/humu.9203 · Cited by 97

A crucial role of mitochondrial Hsp40 in preventing dilated cardiomyopathy

Hayashi, M., Imanaka‐Yoshida, K., Yoshida, T., Wood, M. R., Fearns, C., Tatake, R. J., & Lee, J. (2005) · Nature Medicine · doi:10.1038/nm1327 · Cited by 97

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions

Yamashita, S., Nishino, I., Nonaka, I., & Goto, Y. (2008) · Journal of Human Genetics · doi:10.1007/s10038-008-0289-8 · Cited by 96

Mitochondrial cytopathies

El‐Hattab, A. W., & Scaglia, F. (2016) · Cell Calcium · doi:10.1016/j.ceca.2016.03.003 · Cited by 98

Progressive External Ophthalmoplegia

McClelland, C. M., Manousakis, G., & Lee, M. S. (2016) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-016-0652-7 · Cited by 96

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

Fratter, C., Gorman, G. S., Stewart, J. D., Buddles, M., Smith, C., Evans, J., Seller, A., Poulton, J., Roberts, M., Hanna, M. G., et al. (2010) · Neurology · doi:10.1212/wnl.0b013e3181df099f · Cited by 95

The role of mitochondrial dysfunction in psychiatric disease

Scaglia, F. (2010) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.115 · Cited by 96

Import of mitochondrial transcription factor A (TFAM) into rat liver mitochondria stimulates transcription of mitochondrial DNA

Garstka, H. L. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg717 · Cited by 95

Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism

Hudson, G., Deschauer, M., Busse, K., Zierz, S., & Chinnery, P. F. (2005) · Neurology · doi:10.1212/01.wnl.0000149767.51152.83 · Cited by 94

A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family

Napoli, L., Bordoni, A., Zeviani, M., Hadjigeorgiou, G. M., Sciacco, M., Tiranti, V., Terentiou, A., Moggio, M. G., Papadimitriou, A., Scarlato, G., et al. (2001) · Neurology · doi:10.1212/wnl.57.12.2295 · Cited by 94

Familial Parkinsonism and Ophthalmoplegia From a Mutation in the Mitochondrial DNA Helicase Twinkle

Baloh, R. H., Salavaggione, E., Milbrandt, J., & Pestronk, A. (2007) · Archives of Neurology · doi:10.1001/archneur.64.7.998 · Cited by 94

DNA Polymerase Gamma in Mitochondrial DNA Replication and Repair

Copeland, W. C., & Longley, M. J. (2003) · The Scientific World JOURNAL · doi:10.1100/tsw.2003.09 · Cited by 91

PGC‐1α activation as a therapeutic approach in mitochondrial disease

Wenz, T. (2009) · IUBMB Life · doi:10.1002/iub.261 · Cited by 91

Introducing yesterday‘s phage Therapy in today‘s Medicine

Pirnay, J., Verbeken, G., Rose, T., Jennes, S., Zizi, M., Huys, I., Lavigne, R., Merabishvili, M., Vaneechoutte, M., Buckling, A. G. J., et al. (2012) · Future Virology · doi:10.2217/fvl.12.24 · Cited by 91

The oxidative damage theory of aging

Lin, M. T., & Flint Beal, M. (2003) · Clinical Neuroscience Research · doi:10.1016/s1566-2772(03)00007-0 · Cited by 89

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

Structure–Function Defects of the TWINKLE Linker Region in Progressive External Ophthalmoplegia

Korhonen, J. A., Pande, V., Holmlund, T., Farge, G., Pham, X. H., Nilsson, L., & Falkenberg, M. (2008) · Journal of Molecular Biology · doi:10.1016/j.jmb.2008.01.035 · Cited by 68

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

Goffart, S., Cooper, H. M., Tyynismaa, H., Wanrooij, S., Suomalainen, A., & Spelbrink, J. N. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddn359 · Cited by 138

Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase

Peter, B., Farge, G., Pardo-Hernández, C., Tångefjord, S., & Falkenberg, M. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy415 · Cited by 21

Mitochondrial helicase Twinkle in mtDNA copy number regulation and a late-onset disease model

Tyynismaa, H. (2007) · Työväentutkimus Vuosikirja

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

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