An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

Saiki, R. K., Scharf, S., Faloona, F., Mullis, K. B., Horn, G. T., Erlich, H. A., & Arnheim, N. (1985) · Science · doi:10.1126/science.2999980 · Cited by 8,956

Complete sequence of bovine mitochondrial DNA conserved features of the mammalian mitochondrial genome

Anderson, S., de Bruijn, M. H. L., Coulson, A. R., Eperon, I. C., Sanger, F., & Young, I. G. (1982) · Journal of Molecular Biology · doi:10.1016/0022-2836(82)90137-1 · Cited by 1,472

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

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

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

Role of mitochondria in oxidative stress and ageing

Lenaz, G. (1998) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/s0005-2728(98)00120-0 · Cited by 650

Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study

Luoma, P., Melberg, A., Rinne, J. O., Kaukonen, J. A., Nupponen, N. N., Chalmers, R. M., Oldfors, A., Rautakorpi, I., Peltonen, L., Majamaa, K., et al. (2004) · The Lancet · doi:10.1016/s0140-6736(04)16983-3 · Cited by 548

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

Amati-Bonneau, P., Valentino, M. L., Reynier, P., Gallardo, M. E., Bornstein, B., Boissiere, A., Campos, Y., Rivera, H., de la Aleja, J. G., Carroccia, R., et al. (2008) · Brain · doi:10.1093/brain/awm298 · Cited by 520

Mitochondrial diseases: the contribution of organelle stress responses to pathology

Suomalainen, A., & Battersby, B. J. (2018) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2017.66 · Cited by 505

Pearson's marrow–pancreas syndrome. A multisystem mitochondrial disorder in infancy

Rötig, A., Cormier, V, Blanche, S., Bonnefont, J. P., Ledeist, F., Romero, N., Schmitz, J., Rustin, P., Fischer, A., & Saudubray, J. M. (1990) · Journal of Clinical Investigation · doi:10.1172/jci114881 · Cited by 461

Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3

Khan, N. A., Auranen, M., Paetau, I., Pirinen, E., Euro, L., Forsström, S., Pasila, L., Velagapudi, V., Carroll, C. J., Auwerx, J., et al. (2014) · EMBO Molecular Medicine · doi:10.1002/emmm.201403943 · Cited by 385

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

DNA Polymerase γ in Mitochondrial DNA Replication and Repair

Graziewicz, M. A., Longley, M. J., & Copeland, W. C. (2006) · Chemical Reviews · doi:10.1021/cr040463d · Cited by 301

Mitochondrial myopathy induces a starvation-like response

Tyynismaa, H., Carroll, C. J., Raimundo, N., Ahola-Erkkilä, S., Wenz, T., Ruhanen, H., Guse, K., Hemminki, A., Peltola-Mjøsund, K. E., Tulkki, V., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq310 · Cited by 300

Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia

Lamantea, E., Tiranti, V., Bordoni, A., Toscano, A., Bono, F., Servidei, S., Papadimitriou, A., Spelbrink, H., Silvestri, L., Casari, G., et al. (2002) · Annals of Neurology · doi:10.1002/ana.10278 · Cited by 270

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

Van Goethem, G., Luoma, P., Rantamäki, M., Al Memar, A., Kaakkola, S., Hackman, P., Krahe, R., Löfgren, A., Martin, J. J., De Jonghe, P., et al. (2004) · Neurology · doi:10.1212/01.wnl.0000140494.58732.83 · Cited by 261

Mitochondrial bioenergetics in aging

Lenaz, G., D’Aurelio, M., Merlo Pich, M., Genova, M. L., Ventura, B., Bovina, C., Formiggini, G., & Parenti Castelli, G. (2000) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/s0005-2728(00)00177-8 · Cited by 189

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

Different in situ hybridization patterns of mitochondrial DNA in cytochrome c oxidase-deficient extraocular muscle fibres in the elderly

Müller-Höcker, J., Seibel, P., Schneiderbanger, K., & Kadenbach, B. (1993) · Virchows Archiv A Pathological Anatomy and Histopathology · doi:10.1007/bf01605127 · Cited by 168

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

Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation

Simon, D. K., Pulst, S. M., Sutton, J. P., Browne, S. E., Beal, M. F., & Johns, D. R. (1999) · Neurology · doi:10.1212/wnl.53.8.1787 · 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

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

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

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

Genetic features of mitochondrial respiratory chain disorders

Rötig, A., & Munnich, A. (2003) · Journal of the American Society of Nephrology · doi:10.1097/01.asn.0000095481.24091.c9 · Cited by 82

Mitochondrial myopathies

Larsson, N. ‐., & Oldfors, A. (2001) · Acta Physiologica Scandinavica · doi:10.1046/j.1365-201x.2001.00842.x · Cited by 65

Autosomal dominant progressive external ophthalmoplegia: Distribution of multiple mitochondrial DNA deletions

Moslemi, A.-R., Melberg, A., Holme, E., & Oldfors, A. (1999) · Neurology · doi:10.1212/wnl.53.1.79 · Cited by 61

OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape

Zeviani, M. (2008) · Brain · doi:10.1093/brain/awm339 · Cited by 41

Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects

Sanchez-Martinez, A., Calleja, M., Peralta, S., Matsushima, Y., Hernandez-Sierra, R., Whitworth, A. J., Kaguni, L. S., & Garesse, R. (2012) · PLoS ONE · doi:10.1371/journal.pone.0043954 · Cited by 25

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits

Craig, K., Young, M. J., Blakely, E. L., Longley, M. J., Turnbull, D. M., Copeland, W. C., & Taylor, R. W. (2012) · Mitochondrion · doi:10.1016/j.mito.2011.11.006 · Cited by 24

Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy

Habibzadeh, P., Silawi, M., Dastsooz, H., Bahramjahan, S., Ezzatzadegan Jahromi, S., Ostovan, V. R., Yavarian, M., Mofatteh, M., & Faghihi, M. A. (2020) · BMC Gastroenterology · doi:10.1186/s12876-020-01280-5 · Cited by 10