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

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

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

The mitochondrial genome: structure, transcription, translation and replication

Taanman, J.-W. (1999) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/s0005-2728(98)00161-3 · Cited by 1,635 · see citing works

Mitochondrial transcription factor A is necessary for mtDNA maintance and embryogenesis in mice

Larsson, N.-G., Wang, J., Wilhelmsson, H., Oldfors, A., Rustin, P., Lewandoski, M., Barsh, G. S., & Clayton, D. A. (1998) · Nature Genetics · doi:10.1038/ng0398-231 · Cited by 1,594 · see citing works

The structure and evolution of the human β-globin gene family

Efstratiadis, A. (1980) · Cell · doi:10.1016/0092-8674(80)90429-8 · Cited by 1,374 · see citing works

Replication of animal mitochondrial DNA

Clayton, D. A. (1982) · Cell · doi:10.1016/0092-8674(82)90049-6 · Cited by 1,236 · see citing works

MITOCHONDRIAL DNA MAINTENANCE IN VERTEBRATES

Shadel, G. S., & Clayton, D. A. (1997) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.66.1.409 · Cited by 1,059 · 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

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 · see citing works

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 · see citing works

Mitochondrial Myopathy Caused by Long-Term Zidovudine Therapy

Dalakas, M. C., Illa, I., Pezeshkpour, G. H., Laukaitis, J. P., Cohen, B. H., & Griffin, J. L. (1990) · New England Journal of Medicine · doi:10.1056/nejm199004193221602 · Cited by 837 · see citing works

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

Zeviani, M., Servidei, S., Gellera, C., Bertini, E., DiMauro, S., & DiDonato, S. (1989) · Nature · doi:10.1038/339309a0 · 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

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

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

A Direct Repeat Is a Hotspot for Large-Scale Deletion of Human Mitochondrial DNA

Schon, E. A., Rizzuto, R., Moraes, C. T., Nakase, H., Zeviani, M., & DiMauro, S. (1989) · Science · doi:10.1126/science.2711184 · Cited by 569 · see citing works

Similarity of Human Mitochondrial Transcription Factor 1 to High Mobility Group Proteins

Parisi, M. A., & Clayton, D. A. (1991) · Science · doi:10.1126/science.2035027 · Cited by 548 · see citing works

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.

Shoffner, J. M., Lott, M. T., Voljavec, A. S., Soueidan, S. A., Costigan, D. A., & Wallace, D. C. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.20.7952 · Cited by 505 · see citing works

Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy

Arnaudo, E., Shanske, S., DiMauro, S., Schon, E. A., Moraes, C. T., Schon, E. A., & Dalakas, M. C. (1991) · The Lancet · doi:10.1016/0140-6736(91)91294-5 · Cited by 504 · see citing works

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

Strom, T. M. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.13.2021 · Cited by 480 · see citing works

Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression.

Wang, J., Wilhelmsson, H., Graff, C., Li, H., Oldfors, A., Rustin, P., Brüning, J. C., Kahn, C. R., Clayton, D. A., Barsh, G. S., et al. (1999) · Nature Genetics · doi:10.1038/5089 · Cited by 435 · see citing works

Impaired insulin secretion and β-cell loss in tissue-specific knockout mice with mitochondrial diabetes

Silva, J. P., Köhler, M., Graff, C., Oldfors, A., Magnuson, M. A., Berggren, P.-O., & Larsson, N.-G. (2000) · Nature Genetics · doi:10.1038/81649 · Cited by 433 · see citing works

Coupled Leading- and Lagging-Strand Synthesis of Mammalian Mitochondrial DNA

Holt, I. J., Lorimer, H. E., & Jacobs, H. T. (2000) · Cell · doi:10.1016/s0092-8674(00)80688-1 · Cited by 418 · see citing works

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Hirano, M., Silvestri, G., Blake, D. M., Lombès, A., Minetti, C., Bonilla, E., Hays, A. P., Lovelace, R. E., Butler, I., Bertoríni, T. E., et al. (1994) · Neurology · doi:10.1212/wnl.44.4.721 · Cited by 403 · see citing works

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA

Mita, S., Rizzuto, R., Moraes, C. T., Shanske, S., Arnaudo, E., Fabrizi, G. M., Koga, Y., DiMauro, S., & Schon, E. A. (1990) · Nucleic Acids Research · doi:10.1093/nar/18.3.561 · Cited by 339 · see citing works

Animal mitochondrial biogenesis and function: a regulatory cross-talk between two genomes

Garesse, R., & Vallejo, C. G. (2001) · Gene · doi:10.1016/s0378-1119(00)00582-5 · Cited by 307 · see citing works

Length heteroplasmy of sturgeon mitochondrial DNA: an illegitimate elongation model.

Buroker, N. E., Brown, J. R., GILBERT, T. A., et al. (1990) · Genetics · doi:10.1093/genetics/124.1.157 · Cited by 273 · see citing works

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia.

Suomalainen, A., Majander, A. S., Haltia, M., Somer, H., Lönnqvist, J. K., Savontaus, M. L., & Peltonen, L. (1992) · Journal of Clinical Investigation · doi:10.1172/jci115856 · Cited by 240 · see citing works

Primers for Mitochondrial DNA Replication Generated by Endonuclease G

Côté, J., & Ruiz-Carrillo, A. (1993) · Science · doi:10.1126/science.7688144 · Cited by 240 · see citing works

An autosomal locus predisposing to deletions of mitochondrial DNA

Suomalainen, A., Kaukonen, J., Amati‐Bonneau, P., Timonen, R., Haltia, M., Weissenbach, J., Zeviani, M., Somer, H., & Peltonen, L. (1995) · Nature Genetics · doi:10.1038/ng0295-146 · Cited by 238 · see citing works

Low Levels of Mitochondrial Transcription Factor A in Mitochondrial DNA Depletion

Larsson, N., Oldfors, A., Holme, E., & Clayton, D. A. (1994) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1994.1603 · Cited by 216 · see citing works

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

Tritschler, H.-J., Andreetta, F., Moraes, C. T., et al. (1992) · Neurology · doi:10.1212/wnl.42.1.209 · Cited by 216 · see citing works

Zidovudine induces molecular, biochemical, and ultrastructural changes in rat skeletal muscle mitochondria.

Lewis, W., Gonzalez, B. I., Chomyn, A., & Papoian, T. (1992) · Journal of Clinical Investigation · doi:10.1172/jci115722 · Cited by 204 · see citing works

Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion

Poulton, J., Morten, K., Emmerson, C. F., Potter, C., Sewry, C. A., Dubowitz, V., Kidd, H., Stephenson, J. R., Whitehouse, W. P., Hansen, F. J., et al. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.10.1763 · Cited by 169 · see citing works

Initiation of Mitochondrial DNA Replication by Transcription and R-loop Processing

Lee, D. Y., & Clayton, D. A. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.46.30614 · Cited by 164 · see citing works

Multiple mitochondria1 DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy

Bohlega, S., Tanji, K., Santorelli, F. M., Hirano, M., al-Jishi, A., & DiMauro, S. (1996) · Neurology · doi:10.1212/wnl.46.5.1329 · Cited by 152 · see citing works

Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA

Suomalainen, A., Peltonen, L., Paetau, A. E., Leinonen, H., Majander, A. S., & Somer, H. (1992) · The Lancet · doi:10.1016/0140-6736(92)92496-3 · Cited by 150 · see citing works

Human Mitochondrial DNA Polymerase Holoenzyme: Reconstitution and Characterization

Johnson, A. A., Tsai, Y., Graves, S. W., & Johnson, K. A. (2000) · Biochemistry · doi:10.1021/bi992104w · Cited by 147 · see citing works

Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease

Fadić, R., Russell, J. A., Vedanarayanan, V., Lehar, M., Kuncl, R. W., & Johns, D. R. (1997) · Neurology · doi:10.1212/wnl.49.1.239 · Cited by 142 · see citing works

Late‐onset mitochondrial myopathy

Johnston, W. S. W., Karpati, G., Carpenter, S., Arnold, D. L., & Shoubridge, E. A. (1995) · Annals of Neurology · doi:10.1002/ana.410370106 · Cited by 140 · see citing works

Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA

Suomalainen, A., Majander, A. S., Wallin, M., Setälä, K., KONTULA, K. K., Leinonen, H., Salmi, T. T., Paetau, A. E., Haltia, M., Valanne, L. K., et al. (1997) · Neurology · doi:10.1212/wnl.48.5.1244 · Cited by 140 · see citing works

Clinical manifestations of mitochondria1 DNA depletion

Vu, T., Sciacco, M., Tanji, K., et al. (1998) · Neurology · doi:10.1212/wnl.50.6.1783 · Cited by 128 · see citing works

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA

Servidei, S., Zeviani, M., Manfredi, G., Ricci, E., Silvestri, G., Bertini, E., Gellera, C., Mauro, S. D., Donate, S. D., & Tonali, P. (1991) · Neurology · doi:10.1212/wnl.41.7.1053 · Cited by 128 · see citing works

Replication of Circular DNA in Eukaryotic Cells

Kasamatsu, H., & Vinograd, J. R. (1974) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.43.070174.003403 · Cited by 121 · see citing works

Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB)

Tiranti, V., Rocchi, M., DiDonato, S., & Zeviani, M. (1993) · Gene · doi:10.1016/0378-1119(93)90370-i · Cited by 120 · see citing works

Cellular and molecular events leading to mitochondrial toxicity of 1-(2-deoxy-2-fluoro-1-beta-D-arabinofuranosyl)-5-iodouracil in human liver cells.

Cui, L., Yoon, S.-S., Schinazi, R. F., & Sommadossi, J. (1995) · Journal of Clinical Investigation · doi:10.1172/jci117698 · Cited by 120 · see citing works

Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion.

Bodnar, A. G., Cooper, J. M., Holt, I. J., et al. (1993) · PubMed · Cited by 118 · see citing works

Multiple symmetric lipomatosis

Klopstock, T., Naumann, M., Schalke, B., et al. (1994) · Neurology · doi:10.1212/wnl.44.5.862 · Cited by 118 · see citing works

Molecular Mechanisms in Mitochondrial DNA Depletion Syndrome

Taanman, J., Bodnar, A. G., Cooper, J. M., et al. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.6.935 · Cited by 118 · see citing works

Mitochondrial DNA deletions in inclusion body myositis

Oldfors, A., Larsson, N., Lindberg, C., & Holme, E. (1993) · Brain · doi:10.1093/brain/116.2.325 · Cited by 115 · see citing works

Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome

Papadimitriou, A., Comi, G. P., Hadjigeorgiou, G. M., et al. (1998) · Neurology · doi:10.1212/wnl.51.4.1086 · Cited by 111 · see citing works

Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients

Santorelli, F. M., Sciacco, M., Tanji, K., Shanske, S., Vu, T., Golzi, V., Griggs, R. C., Mendell, J. R., Hays, A. P., Bertoríni, T. E., et al. (1996) · Annals of Neurology · doi:10.1002/ana.410390615 · Cited by 111 · see citing works

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.

Barrientos, A., Volpini, V., Casademont, J., Genis, D. E., Manzanares, J. M., Ferrer, I., Corral, J., Cardellach, F., Urbano-Márquez, A., Estivill, X., et al. (1996) · Journal of Clinical Investigation · doi:10.1172/jci118581 · Cited by 106 · see citing works

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

Kaukonen, J., Amati‐Bonneau, P., Suomalainen, A., Rötig, A., Piscaglia, M. G., Salvi, F., Weissenbach, J., Fratta, G. M., Comi, G. P., Peltonen, L., et al. (1996) · PubMed Central · Cited by 105 · see citing works

Biochemical Analysis of Mutant T7 Primase/Helicase Proteins Defective in DNA Binding, Nucleotide Hydrolysis, and the Coupling of Hydrolysis with DNA Unwinding

Washington, M. T., Rosenberg, A. H., Griffin, K. P., Studier, F. W., & Patel, S. S. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.43.26825 · Cited by 103 · see citing works

Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.

Cormier‐Daire, V., Rötig, A., Tardieu, M., Colonna, M., Saudubray, J., & Münnich, A. (1991) · Europe PMC (PubMed Central) · Cited by 102 · see citing works

Fatal infantile liver failure associated with mitochondrial DNA depletion

Mazziotta, M. R. M., Ricci, E., Bertini, E., Dionisi‐Vici, C., Servidei, S., Burlina, A., Sabetta, G., Bartuli, A., Manfredi, G., Silvestri, G., et al. (1992) · The Journal of Pediatrics · doi:10.1016/s0022-3476(05)80335-x · Cited by 102 · see citing works

Mitochondrial DNA Polymerase is Expressed and Translated in the Absence of Mitochondrial DNA Maintenance and Replication

Davis, A. F., Ropp, P. A., Clayton, D. A., & Copeland, W. C. (1996) · Nucleic Acids Research · doi:10.1093/nar/24.14.2753 · Cited by 100 · see citing works

New features of mitochondrial DNA replication system in yeast and man

Lecrenier, N., & Foury, F. (2000) · Gene · doi:10.1016/s0378-1119(00)00107-4 · Cited by 98 · see citing works

Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Maps to Chromosome 22q13.32-qter

Hirano, M., Garcia-de-Yebenes, J., Jones, A. C., Nishino, I., DiMauro, S., Carlo, J., Bender, A. N., Hahn, A. F., Salberg, L. M., Weeks, D. E., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301979 · Cited by 94 · see citing works

In vivo and in vitro evidence for slipped mispairing in mammalian mitochondria.

Madsen, C. S., Ghivizzani, S. C., & Hauswirth, W. W. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.16.7671 · Cited by 92 · see citing works

Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia

Moslemi, A., Oldfors, A., Melberg, A., & Holme, E. (1996) · Annals of Neurology · doi:10.1002/ana.410400506 · Cited by 91 · see citing works

Mitochondrial DNA deletions in inherited recurrent myoglobinuria

Ohno, K., Tanaka, M., Sahashi, K., Ibi, T., Sato, W., Yamamoto, T., Takahashi, A., & Ozawa, T. (1991) · Annals of Neurology · doi:10.1002/ana.410290406 · Cited by 88 · see citing works

Structure and function of the mitochondrial genome

Clayton, D. A. (1992) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799602 · Cited by 76 · see citing works

Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome?

Poulton, J., Sewry, C. A., Potter, C. G., Bougeron, T., Chrétien, D., Wijburg, F. A., Morten, K., & Brown, G. (1994) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00711367 · Cited by 75 · see citing works

Vertebrate Mitochondrial DNA—A Circle of Surprises

Clayton, D. A. (2000) · Experimental Cell Research · doi:10.1006/excr.1999.4763 · Cited by 68 · see citing works

Mitochondrial DNA depletion: Prevalence in a pediatric population referred for neurologic evaluation

Macmillan, C., & Shoubridge, E. A. (1996) · Pediatric Neurology · doi:10.1016/0887-8994(96)00018-5 · Cited by 67 · see citing works

A Third Locus Predisposing to Multiple Deletions of mtDNA in Autosomal Dominant Progressive External Ophthalmoplegia

Kaukonen, J., Zeviani, M., Comi, G. P., Piscaglia, M.-G., Peltonen, L., & Suomalainen, A. (1999) · The American Journal of Human Genetics · doi:10.1086/302445 · Cited by 64 · see citing works

Navajo Neurohepatopathy: A Mitochondrial Dna Depletion Syndrome?

Vu, T., Tanji, K., Holve, S. A., et al. (2001) · Hepatology · doi:10.1053/jhep.2001.25921 · Cited by 62 · see citing works

Mitochondrial myopathy simulating spinal muscular atrophy

Pons, R. M., Andreetta, F., Wang, C. H., et al. (1996) · Pediatric Neurology · doi:10.1016/0887-8994(96)00118-x · Cited by 62 · see citing works

Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia

Maaswinkel‐Mooij, P. D., den Bogert, C. V., Scholte, H. R., Onkenhout, W., Brederoo, P., & Poorthuis, B. J. H. M. (1996) · The Journal of Pediatrics · doi:10.1016/s0022-3476(96)80134-x · Cited by 59 · see citing works

Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother

Casademont, J., Barrientos, A., Cardellach, F., Rötig, A., Grau, J.-M., Montoya, J., Beltlran, B., Cervantes, F., Rozman, C., Estivill, X., et al. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.11.1945 · Cited by 59 · see citing works

Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement

Figarella-Branger, D. F., Pellissier, J. F., Scheiner, C., et al. (1992) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(92)90195-q · Cited by 57 · see citing works

Nucleus‐driven mutations of human mitochondrial DNA

Zeviani, M. (1992) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799604 · Cited by 56 · see citing works

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological, biochemical and molecular-genetic study

Mariotti, C., Uziel, G., Carrara, F., et al. (1995) · Journal of Neurology · doi:10.1007/bf00868806 · Cited by 49 · see citing works

Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features

Chalmers, R. M., Brockington, M., Howard, R., Lecky, B. R. F., MORGAN-HUGHES, J. A., & Harding, A. E. (1996) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(96)00032-9 · Cited by 49 · see citing works

Ribonucleotide Reductase: Evidence for Specific Association with HeLa-Cell Mitochondria

Young, P., Leeds, J. M., Slabaugh, M. B., et al. (1994) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1994.2146 · Cited by 41 · see citing works

Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24

Li, F.-Y., Tariq, M., CROXEN, R., Morten, K., Squier, W., Newsom–Davis, J., Beeson, D., & Larsson, C. (1999) · Neurology · doi:10.1212/wnl.53.6.1265 · Cited by 41 · see citing works

Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism

Melberg, A., Lundberg, P. O., Henriksson, K. G., Olsson, Y., & St�lberg, E. V. (1996) · Muscle & Nerve · doi:10.1002/(sici)1097-4598(199606)19:6 · Cited by 39 · see citing works

Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy

Checcarelli, N., Prelle, A. C., Moggio, M. G., Comi, G. P., Bresolin, N., Papadimitriou, A., Fagiolari, G., Bordoni, A., & Scarlato, G. (1994) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(94)90206-2 · Cited by 37 · see citing works

Familial mitochondrial DNA depletion in liver: haplotype analysis of candidate genes

Spelbrink, J. N., Galen, M. J. M. V., Zwart, R., et al. (1998) · Human Genetics · doi:10.1007/s004390050700 · Cited by 36 · see citing works

Mitochondrial DNA depletion in a patient with long survival

Vu, T., Tanji, K., Valsamis, H. A., et al. (1998) · Neurology · doi:10.1212/wnl.51.4.1190 · Cited by 36 · see citing works

MEDICINE AND THE LAW

Brahams, D., & Horton, R. C. (1994) · The Lancet · doi:10.1016/s0140-6736(94)92599-2 · Cited by 31 · see citing works

Marked decrease of mitochondrial DNA with multiple deletions in a patient with familial mitochondrial myopathy

Otsuka, M., Niijima, K., Mizuno, Y., Yoshida, M., Kagawa, Y., & Ohta, S. (1990) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(90)92079-f · Cited by 30 · see citing works

Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia

Melberg, A., Holme, E., Oldfors, A., et al. (1998) · Neurology · doi:10.1212/wnl.50.1.299 · Cited by 30 · see citing works

Fatal cytochromec oxidase‐deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts

Télerman-Toppet, N., Biarent, D., Bouton, J. M., et al. (1992) · Journal of Inherited Metabolic Disease · doi:10.1007/bf02435967 · Cited by 30 · see citing works

Clinical heterogeneity associated with mitochondrial DNA depletion in muscle

Campos, Y., Martín, M. A., Garcı́a-Silva, T., et al. (1998) · Neuromuscular Disorders · doi:10.1016/s0960-8966(98)00080-7 · Cited by 30 · see citing works

Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status

van Domburg, P. H. M. F., Gabreëls‐Festen, A. A. W. M., Gabreëls, F. J. M., de Coo, I. F. M., Ruitenbeek, W., Wesseling, P., & Laak, H. T. (1996) · Brain · doi:10.1093/brain/119.3.997 · Cited by 30 · see citing works

Early-onset fatal encephalomyopathy associated with severe mtDNA depletion

Paquis‐Flucklinger, V., Pellissier, F., Camboulives, J., et al. (1995) · European Journal of Pediatrics · doi:10.1007/bf02074834 · Cited by 27 · see citing works

Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia

Takei, Y., Ikeda, S., Yanagisawa, N., et al. (1995) · Muscle & Nerve · doi:10.1002/mus.880181115 · Cited by 17 · see citing works

Motor unit discharge behaviors in stroke patients

Yan, K., Fang, J., & Shahani, B. T. (1998) · Muscle & Nerve · doi:10.1002/(sici)1097-4598(199811)21:11 · Cited by 12 · see citing works

mtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy

Kirches, E., Winkler, K., Warich-Kirches, M., et al. (1998) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005306725644 · Cited by 10 · see citing works

Diagnostic criteria for primary progressive mutiple sclerosis: a position paper.

(2000) · Pure Amsterdam UMC · doi:10.1002/1531-8249(200006)47:6 · Cited by 2 · 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

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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

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

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 · see citing works

Mitochondrial DNA mutations associated with the 11778 mutation in Leber's disease.

Sawano, T., Tanaka, M., Ohno, K., et al. (1996) · PubMed · Cited by 7 · see citing works

Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation

Hutchin, T. P., Lench, N., Arbuzova, S., et al. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200581 · Cited by 29 · see citing works

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy

Huoponen, K., Lamminen, T., Juvonen, V., Aula, P., Nikoskelainen, E. K., & Savontaus, M.-L. (1993) · Human Genetics · doi:10.1007/bf01247339 · Cited by 95 · see citing works

Universal heteroplasmy of human mitochondrial DNA

Payne, B. A. I., Wilson, I., Yu‐Wai‐Man, P., Coxhead, J., Deehan, D. J., Horváth, R., Taylor, R. W., Samuels, D. C., Santibanez‐Koref, M., & Chinnery, P. F. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds435 · Cited by 396 · see citing works

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation

Pyle, A., Taylor, R. W., Durham, S. E., Deschauer, M., Schaefer, A. M., Samuels, D. C., & Chinnery, P. F. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.043109 · Cited by 68 · see citing works