DOI: 10.1006/scdb.2001.0279. Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA

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

10.1006/scdb.2001.0279

Crossref journal-article

Elsevier BV

Seminars in Cell & Developmental Biology (78)

Bibliography

Hirano, M., Marti, R., Ferreiro-Barros, C., VilÃ , M. R., Tadesse, S., Nishigaki, Y., Nishino, I., & Vu, T. H. (2001). Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA. Seminars in Cell & Developmental Biology, 12(6), 417â427.

Authors 8

Michio Hirano (first)
Ramon Marti (additional)
Claudia Ferreiro-Barros (additional)
Maya R Vilà (additional)
Saba Tadesse (additional)
Yutaka Nishigaki (additional)
Ichizo Nishino (additional)
Tuan H Vu (additional)

References 93 Referenced 87

10.1038/339309a0 / Nature / An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region by Zeviani (1989)
{'key': '10.1006/scdb.2001.0279_RF2', 'first-page': '492', 'article-title': 'MtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases', 'volume': '48', 'author': 'Moraes', 'year': '1991', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / MtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases by Moraes (1991)
10.1038/290457a0 / Nature / Sequence and organization of the human mitochondrial genome by Anderson (1981)
10.1146/annurev.biochem.66.1.409 / Ann Rev Biochem / Mitochondrial DNA maintenance in vertebrates by Shadel (1997)
10.1016/S0005-2728(98)00161-3 / Biochim Biophys Acta / The mitochondrial genome: structure, transcription and translation by Taanman (1999)
10.1006/excr.1999.4763 / Exp Cell Res / Vertebrate mitochondrial DNA-a circle of surprises by Clayton (2000)
10.1016/S0378-1119(00)00107-4 / Gene / New features of mitochondrial DNA replication system in yeast and man by Lecrenier (2000)
10.1016/S0378-1119(00)00582-5 / Gene / Animal mitochondrial biogenesis and function: a regulatory cross-talk between two genomes by Garesse (2001)
10.1146/annurev.bi.43.070174.003403 / Annu Rev Biochem / Replication of circular DNA in eukaryotic cells by Kasamatsu (1974)
10.1007/BF01799602 / J Inherit Metab Dis / Structure and function of the mitochondrial genome by Clayton (1992)
10.1016/S0092-8674(00)80688-1 / Cell / Coupled leading and lagging-strand synthesis of mammalian mitochondrial DNA by Holt (2000)
10.1126/science.2035027 / Science / Similarity of human mitochondrial transcription factor 1 to high mobility group proteins by Parisi (1991)
10.1074/jbc.273.46.30614 / J Biol Chem / Initiation of mitochondrial DNA replication by transcription and R-loop processing by Lee (1998)
10.1126/science.7688144 / Science / Primers for mitochondrial DNA replication generated by endonuclease G by Coté (1993)
10.1021/bi992104w / Biochemistry / Human mitochondrial DNA polymerase holoenzyme: reconstitution and characterization by Johnson (2000)
10.1016/0378-1119(93)90370-I / Gene / Cloning of human and rat cDNAs encoding the mitochondrial single-stranded-DAN-binding protein, SSB by Tiranti (1993)
10.1038/90058 / Nat Genet / Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria by Spelbrink (2001)
10.1038/90034 / Nat Genet / Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions by Van Goethem (2001)
10.1126/science.283.5402.689 / Science / Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder by Nishino (1999)
10.1126/science.289.5480.782 / Science / Role of adenine nucleotide translocator 1 in mtDNA maintenance by Kaukonen (2000)
10.1212/WNL.44.4.721 / Neurology / Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder by Hirano (1994)
10.1212/WNL.51.4.1086 / Neurology / Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome by Papadimitriou (1998)
10.1002/1531-8249(200006)47:6<792::AID-ANA12>3.0.CO;2-Y / Ann Neurol / MNGIE: An autosomal recessive disorder due to thymidine phosphorylase mutations by Nishino (2000)
10.1086/301979 / Am J Hum Genet / Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome maps to chromosome 22q13.32-qter by Hirano (1998)
10.1056/NEJM199004193221602 / New Engl J Med / Mitochondrial myopathy caused by long-term zidovudine therapy by Dalakas (1990)
10.1016/0140-6736(91)91294-5 / Lancet / Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy by Arnaudo (1991)
10.1172/JCI115722 / J Clin Invest / Zidovudine induces molecular, biochemical, and ultrastructural changes in rat skeletal muscle mitochondria by Lewis (1992)
10.1016/S0140-6736(94)92599-2 / Lancet / Deaths in US fialuridine trial by Brahams (1994)
10.1172/JCI117698 / J Clin Invest / Cellular and molecular events leading to mitochondrial toxicity of 1-[2 ′ -deoxy- 2 ′ fluoro- ß-D-arabinofuranosyl]-5-iodouracil in human liver cells by Cui (1995)
10.1038/331717a0 / Nature / Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies by Holt (1998)
10.1212/WNL.46.5.1329 / Neurology / Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy by Bohlega (1996)
10.1093/brain/119.3.997 / Brain / Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status by van Domburg (1996)
10.1212/WNL.49.1.239 / Neurology / Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease by Fadic (1997)
10.1212/WNL.41.7.1053 / Neurology / Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies by Servidei (1991)
10.1172/JCI115856 / J Clin Invest / Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia by Suomalainen (1992)
10.1212/WNL.48.5.1244 / Neurology / Autosomal dominant progressive external ophthalmoplegia with mitochondrial deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease by Suomalainen (1997)
10.1002/(SICI)1097-4598(199606)19:6<751::AID-MUS10>3.0.CO;2-O / Muscle Nerve / Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism by Melberg (1996)
10.1212/WNL.50.1.299 / Neurology / Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia by Melberg (1998)
10.1126/science.2711184 / Science / A direct repeat is a hotspot for large scale deletions of human mitochondrial DNA by Schon (1989)
10.1093/nar/18.3.561 / Nucl Acids Res / Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA by Mita (1990)
10.1002/ana.410400506 / Ann Neurol / Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia by Moslemi (1996)
10.1038/ng0295-146 / Nat Genet / An autosomal locus predisposing to deletions of mitochondrial DNA by Suomalainen (1995)
10.1086/302445 / Am J Hum Genet / A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia by Kaukonen (1999)
10.1212/WNL.53.6.1265 / Neurology / Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24 by Li (1999)
10.1006/bbrc.1994.2146 / Biochem Biophys Res Commun / Ribonucleotide reductase: evidence for specific association with HeLa cell mitochondria by Young (1994)
10.1074/jbc.271.43.26825 / J Biol Chem / Biochemical analysis of mutant T7 primase/helicase proteins defective in DNA binding, nucleotide hydrolysis, and the coupling of hydrolysis with DNA unwinding by Washington (1996)
10.1073/pnas.86.20.7952 / Proc Natl Acad Sci / Spontaneus Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mtDNA deletion:A slip-replication model and metabolic therapy by Shoffner (1989)
{'key': '10.1006/scdb.2001.0279_RF48', 'first-page': '157', 'article-title': 'Length heteroplasmy of sturgeon mitochondrial DNA: an illegitimate elongation model', 'volume': '124', 'author': 'Buroker', 'year': '1990', 'journal-title': 'Genetics'} / Genetics / Length heteroplasmy of sturgeon mitochondrial DNA: an illegitimate elongation model by Buroker (1990)
10.1007/BF01799604 / J Inherit Metab Dis / Nucleus-driven mutations of human mitochondrial DNA by Zeviani (1992)
10.1073/pnas.90.16.7671 / Proc Natl Acad Sci USA / In vivo and in vitro evidence for slipped mispairing in mammalian mitochondria by Madsen (1993)
10.1016/0092-8674(80)90429-8 / Cell / The structure and evolution of the human beta-globin gene family by Efstratiadis (1980)
10.1016/0092-8674(82)90049-6 / Cell / Replication of animal mitochondrial DNA by Clayton (1982)
10.1002/1531-8249(199901)45:1<54::AID-ART10>3.0.CO;2-B / Ann Neurol / Mitochondrial polymerase γ -deficiency and mtDNA depletion in a child with Alper’s syndrome by Naviaux (1999)
10.1053/jhep.2001.25921 / Hepatology / Navajo neurohepatopathy: A mitochondrial DNA depletion syndrome? by Vu (2001)
10.1212/WNL.42.1.209 / Neurology / Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA by Tritschler (1992)
10.1007/BF02435967 / J Inherit Metab Dis / Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts by Telerman-Toppet (1992)
10.1016/0022-510X(92)90195-Q / J Neurol Sci / Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement by Figarella-Branger (1992)
10.1016/S0022-3476(05)80335-X / J Pediat / Fatal infantile liver failure associated with mitochondrial DNA depletion by Mazziotta (1992)
10.1006/bbrc.1994.1603 / Biochem Biophys Res Comm / Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion by Larsson (1994)
10.1007/BF00868806 / J Neurol / Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study by Mariotti (1995)
10.1007/BF00711367 / J Inherit Metab Dis / Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome? by Poulton (1995)
10.1007/BF02074834 / Eur J Pediatr / Early-onset fatal encephalomyopathy associated with severe mtDNA depletion by Paquis-Flucklinger (1995)
10.1016/0887-8994(96)00018-5 / Pediatr Neurol / Mitochondrial DNA depletion: Prevalence in a pediatric population referred for neurologic evaluation by Macmillan (1996)
10.1016/0887-8994(96)00118-X / Pediatr Neurol / Mitochondrial myopathy simulating spinal muscular atrophy by Pons (1996)
10.1212/WNL.50.6.1783 / Neurology / Clinical manifestations of mitochondrial depletion by Vu (1998)
10.1212/WNL.51.4.1190 / Neurology / Mitochondrial DNA depletion in a patient with long survival by Vu (1998)
10.1016/S0960-8966(98)00080-7 / Neuromuscul Disord / Clinical heterogeneity associated with mitochondrial DNA depletion in muscle by Campos (1998)
10.1002/(SICI)1097-4598(199811)21:11<1374::AID-MUS3>3.0.CO;2-6 / Muscle Nerve / Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction by Sciacco (1998)
10.1023/A:1005306725644 / J Inherit Metab Dis / MtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy by Kirches (1998)
10.1093/hmg/6.6.935 / Hum Mol Gen / Molecular mechanisms in mitochondrial DNA depletion syndrome by Taanman (1997)
10.1016/S0022-3476(96)80134-X / J Pediatr / Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia by Maaswinkel-Mooij (1996)
{'key': '10.1006/scdb.2001.0279_RF72', 'first-page': '663', 'article-title': 'Nuclear complementation restores mtDNA levels in cultured cells from patients with mtDNA depletion', 'volume': '53', 'author': 'Bodnar', 'year': '1993', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Nuclear complementation restores mtDNA levels in cultured cells from patients with mtDNA depletion by Bodnar (1993)
10.1093/hmg/3.10.1763 / Hum Mol Genet / Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion by Poulton (1994)
10.1093/nar/24.14.2753 / Nucleic Acids Res / Mitochondrial DNA polymerase gamma is expressed and translated in the absence of mitochondrial DNA maintenance and replication by Davis (1996)
10.1038/ng0398-231 / Nat Genet / Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice by Larsson (1998)
10.1038/5089 / Nat Genet / Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression by Wang (1999)
10.1038/81649 / Nat Genet / Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes by Silva (2000)
10.1007/s004390050700 / Hum Genet / Familial mitochondrial DNA depletion in liver: haplotype analysis of candidate genes by Spelbrink (1998)
{'key': '10.1006/scdb.2001.0279_RF79', 'first-page': '763', 'article-title': 'An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p', 'volume': '58', 'author': 'Kaukonen', 'year': '1996', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p by Kaukonen (1996)
{'key': '10.1006/scdb.2001.0279_RF80', 'first-page': '643', 'article-title': 'Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy', 'volume': '48', 'author': 'Cormier', 'year': '1991', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy by Cormier (1991)
10.1016/0140-6736(92)92496-3 / Lancet / Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA by Suomalainen (1992)
10.1016/0006-291X(90)92079-F / Biochem Biophys Res Commun / Marked decrease of mitochondrial DNA with multiple deletions in a patient with familial mitochondrial myopathy by Otsuka (1990)
10.1093/hmg/3.11.1945 / Hum Mol Genet / Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother by Casademont (1994)
10.1002/ana.410290406 / Ann Neurol / Mitochondrial DNA deletions in inherited recurrent myoglobinuria by Ohno (1991)
10.1172/JCI118581 / J Clin Invest / A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome by Barrientos (1996)
10.1093/hmg/7.13.2021 / Hum Mol Genet / Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein by Strom (1998)
10.1002/ana.410370106 / Ann Neurol / Late-onset mitochondrial myopathy by Johnston (1995)
10.1002/mus.880181115 / Muscle Nerve / Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia by Takei (1995)
10.1212/WNL.44.5.862 / Neurology / Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA by Klopstock (1994)
10.1016/0022-510X(94)90206-2 / J Neurol Sci / Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy by Checcarelli (1994)
10.1016/S0022-510X(96)00032-9 / J Neurol Sci / Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features by Chalmers (1996)
10.1093/brain/116.2.325 / Brain / Mitochondrial DNA deletions in inclusion body myositis by Oldfors (1993)
10.1002/ana.410390615 / Ann Neurol / Multiple mitochondrial DNA deletions in sporadic inclusion body myositis by Santorelli (1996)

Dates

Type	When
Created	22 years, 11 months ago (Sept. 18, 2002, 1:19 p.m.)
Deposited	6 years, 3 months ago (May 9, 2019, 1:54 a.m.)
Indexed	1 month ago (July 30, 2025, 10:14 a.m.)
Issued	23 years, 9 months ago (Dec. 1, 2001)
Published	23 years, 9 months ago (Dec. 1, 2001)
Published Print	23 years, 9 months ago (Dec. 1, 2001)

Funders 0

None

BibTeX

@article{Hirano_2001, title={Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA}, volume={12}, ISSN={1084-9521}, url={http://dx.doi.org/10.1006/scdb.2001.0279}, DOI={10.1006/scdb.2001.0279}, number={6}, journal={Seminars in Cell & Developmental Biology}, publisher={Elsevier BV}, author={Hirano, Michio and Marti, Ramon and Ferreiro-Barros, Claudia and Vilà, Maya R and Tadesse, Saba and Nishigaki, Yutaka and Nishino, Ichizo and Vu, Tuan H}, year={2001}, month=dec, pages={417–427} }

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      "article-title": "Cloning of human and rat cDNAs encoding the mitochondrial single-stranded-DAN-binding protein, SSB",
      "volume": "126",
      "author": "Tiranti",
      "year": "1993",
      "journal-title": "Gene"
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      "first-page": "223",
      "DOI": "10.1038/90058",
      "article-title": "Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria",
      "volume": "28",
      "author": "Spelbrink",
      "year": "2001",
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      "DOI": "10.1038/90034",
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      "author": "Van Goethem",
      "year": "2001",
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      "first-page": "689",
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      "volume": "283",
      "author": "Nishino",
      "year": "1999",
      "journal-title": "Science"
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      "first-page": "782",
      "DOI": "10.1126/science.289.5480.782",
      "article-title": "Role of adenine nucleotide translocator 1 in mtDNA maintenance",
      "volume": "289",
      "author": "Kaukonen",
      "year": "2000",
      "journal-title": "Science"
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    {
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      "volume": "44",
      "author": "Hirano",
      "year": "1994",
      "journal-title": "Neurology"
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      "first-page": "1086",
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      "volume": "51",
      "author": "Papadimitriou",
      "year": "1998",
      "journal-title": "Neurology"
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      "first-page": "792",
      "DOI": "10.1002/1531-8249(200006)47:6<792::AID-ANA12>3.0.CO;2-Y",
      "article-title": "MNGIE: An autosomal recessive disorder due to thymidine phosphorylase mutations",
      "volume": "47",
      "author": "Nishino",
      "year": "2000",
      "journal-title": "Ann Neurol"
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    {
      "key": "10.1006/scdb.2001.0279_RF24",
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      "first-page": "526",
      "DOI": "10.1086/301979",
      "article-title": "Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome maps to chromosome 22q13.32-qter",
      "volume": "63",
      "author": "Hirano",
      "year": "1998",
      "journal-title": "Am J Hum Genet"
    },
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      "key": "10.1006/scdb.2001.0279_RF25",
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      "first-page": "1098",
      "DOI": "10.1056/NEJM199004193221602",
      "article-title": "Mitochondrial myopathy caused by long-term zidovudine therapy",
      "volume": "322",
      "author": "Dalakas",
      "year": "1990",
      "journal-title": "New Engl J Med"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF26",
      "doi-asserted-by": "crossref",
      "first-page": "508",
      "DOI": "10.1016/0140-6736(91)91294-5",
      "article-title": "Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy",
      "volume": "337",
      "author": "Arnaudo",
      "year": "1991",
      "journal-title": "Lancet"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF27",
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      "first-page": "1354",
      "DOI": "10.1172/JCI115722",
      "article-title": "Zidovudine induces molecular, biochemical, and ultrastructural changes in rat skeletal muscle mitochondria",
      "volume": "89",
      "author": "Lewis",
      "year": "1992",
      "journal-title": "J Clin Invest"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF28",
      "doi-asserted-by": "crossref",
      "first-page": "1494",
      "DOI": "10.1016/S0140-6736(94)92599-2",
      "article-title": "Deaths in US fialuridine trial",
      "volume": "343",
      "author": "Brahams",
      "year": "1994",
      "journal-title": "Lancet"
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      "key": "10.1006/scdb.2001.0279_RF29",
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      "first-page": "555",
      "DOI": "10.1172/JCI117698",
      "article-title": "Cellular and molecular events leading to mitochondrial toxicity of 1-[2 \u2032 -deoxy- 2 \u2032 fluoro- \u00df-D-arabinofuranosyl]-5-iodouracil in human liver cells",
      "volume": "95",
      "author": "Cui",
      "year": "1995",
      "journal-title": "J Clin Invest"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF30",
      "doi-asserted-by": "crossref",
      "first-page": "717",
      "DOI": "10.1038/331717a0",
      "article-title": "Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies",
      "volume": "331",
      "author": "Holt",
      "year": "1998",
      "journal-title": "Nature"
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      "first-page": "1329",
      "DOI": "10.1212/WNL.46.5.1329",
      "article-title": "Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy",
      "volume": "46",
      "author": "Bohlega",
      "year": "1996",
      "journal-title": "Neurology"
    },
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      "key": "10.1006/scdb.2001.0279_RF32",
      "doi-asserted-by": "crossref",
      "first-page": "997",
      "DOI": "10.1093/brain/119.3.997",
      "article-title": "Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status",
      "volume": "119",
      "author": "van Domburg",
      "year": "1996",
      "journal-title": "Brain"
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      "key": "10.1006/scdb.2001.0279_RF33",
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      "first-page": "239",
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      "article-title": "Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease",
      "volume": "49",
      "author": "Fadic",
      "year": "1997",
      "journal-title": "Neurology"
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      "first-page": "1053",
      "DOI": "10.1212/WNL.41.7.1053",
      "article-title": "Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies",
      "volume": "41",
      "author": "Servidei",
      "year": "1991",
      "journal-title": "Neurology"
    },
    {
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      "first-page": "61",
      "DOI": "10.1172/JCI115856",
      "article-title": "Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia",
      "volume": "90",
      "author": "Suomalainen",
      "year": "1992",
      "journal-title": "J Clin Invest"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF36",
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      "first-page": "1244",
      "DOI": "10.1212/WNL.48.5.1244",
      "article-title": "Autosomal dominant progressive external ophthalmoplegia with mitochondrial deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease",
      "volume": "48",
      "author": "Suomalainen",
      "year": "1997",
      "journal-title": "Neurology"
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    {
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      "first-page": "751",
      "DOI": "10.1002/(SICI)1097-4598(199606)19:6<751::AID-MUS10>3.0.CO;2-O",
      "article-title": "Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism",
      "volume": "19",
      "author": "Melberg",
      "year": "1996",
      "journal-title": "Muscle Nerve"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF38",
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      "first-page": "299",
      "DOI": "10.1212/WNL.50.1.299",
      "article-title": "Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia",
      "volume": "50",
      "author": "Melberg",
      "year": "1998",
      "journal-title": "Neurology"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF39",
      "doi-asserted-by": "crossref",
      "first-page": "346",
      "DOI": "10.1126/science.2711184",
      "article-title": "A direct repeat is a hotspot for large scale deletions of human mitochondrial DNA",
      "volume": "244",
      "author": "Schon",
      "year": "1989",
      "journal-title": "Science"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF40",
      "doi-asserted-by": "crossref",
      "first-page": "561",
      "DOI": "10.1093/nar/18.3.561",
      "article-title": "Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA",
      "volume": "18",
      "author": "Mita",
      "year": "1990",
      "journal-title": "Nucl Acids Res"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF41",
      "doi-asserted-by": "crossref",
      "first-page": "707",
      "DOI": "10.1002/ana.410400506",
      "article-title": "Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia",
      "volume": "40",
      "author": "Moslemi",
      "year": "1996",
      "journal-title": "Ann Neurol"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF42",
      "doi-asserted-by": "crossref",
      "first-page": "146",
      "DOI": "10.1038/ng0295-146",
      "article-title": "An autosomal locus predisposing to deletions of mitochondrial DNA",
      "volume": "9",
      "author": "Suomalainen",
      "year": "1995",
      "journal-title": "Nat Genet"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF43",
      "doi-asserted-by": "crossref",
      "first-page": "256",
      "DOI": "10.1086/302445",
      "article-title": "A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia",
      "volume": "65",
      "author": "Kaukonen",
      "year": "1999",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF44",
      "doi-asserted-by": "crossref",
      "first-page": "1265",
      "DOI": "10.1212/WNL.53.6.1265",
      "article-title": "Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24",
      "volume": "53",
      "author": "Li",
      "year": "1999",
      "journal-title": "Neurology"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF45",
      "doi-asserted-by": "crossref",
      "first-page": "46",
      "DOI": "10.1006/bbrc.1994.2146",
      "article-title": "Ribonucleotide reductase: evidence for specific association with HeLa cell mitochondria",
      "volume": "203",
      "author": "Young",
      "year": "1994",
      "journal-title": "Biochem Biophys Res Commun"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF46",
      "doi-asserted-by": "crossref",
      "first-page": "26825",
      "DOI": "10.1074/jbc.271.43.26825",
      "article-title": "Biochemical analysis of mutant T7 primase/helicase proteins defective in DNA binding, nucleotide hydrolysis, and the coupling of hydrolysis with DNA unwinding",
      "volume": "271",
      "author": "Washington",
      "year": "1996",
      "journal-title": "J Biol Chem"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF47",
      "doi-asserted-by": "crossref",
      "first-page": "7952",
      "DOI": "10.1073/pnas.86.20.7952",
      "article-title": "Spontaneus Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mtDNA deletion:A slip-replication model and metabolic therapy",
      "volume": "86",
      "author": "Shoffner",
      "year": "1989",
      "journal-title": "Proc Natl Acad Sci"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF48",
      "first-page": "157",
      "article-title": "Length heteroplasmy of sturgeon mitochondrial DNA: an illegitimate elongation model",
      "volume": "124",
      "author": "Buroker",
      "year": "1990",
      "journal-title": "Genetics"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF49",
      "doi-asserted-by": "crossref",
      "first-page": "456",
      "DOI": "10.1007/BF01799604",
      "article-title": "Nucleus-driven mutations of human mitochondrial DNA",
      "volume": "15",
      "author": "Zeviani",
      "year": "1992",
      "journal-title": "J Inherit Metab Dis"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF50",
      "doi-asserted-by": "crossref",
      "first-page": "7671",
      "DOI": "10.1073/pnas.90.16.7671",
      "article-title": "In vivo and in vitro evidence for slipped mispairing in mammalian mitochondria",
      "volume": "90",
      "author": "Madsen",
      "year": "1993",
      "journal-title": "Proc Natl Acad Sci USA"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF51",
      "doi-asserted-by": "crossref",
      "first-page": "653",
      "DOI": "10.1016/0092-8674(80)90429-8",
      "article-title": "The structure and evolution of the human beta-globin gene family",
      "volume": "21",
      "author": "Efstratiadis",
      "year": "1980",
      "journal-title": "Cell"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF52",
      "doi-asserted-by": "crossref",
      "first-page": "693",
      "DOI": "10.1016/0092-8674(82)90049-6",
      "article-title": "Replication of animal mitochondrial DNA",
      "volume": "28",
      "author": "Clayton",
      "year": "1982",
      "journal-title": "Cell"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF53",
      "doi-asserted-by": "crossref",
      "first-page": "54",
      "DOI": "10.1002/1531-8249(199901)45:1<54::AID-ART10>3.0.CO;2-B",
      "article-title": "Mitochondrial polymerase \u03b3 -deficiency and mtDNA depletion in a child with Alper\u2019s syndrome",
      "volume": "45",
      "author": "Naviaux",
      "year": "1999",
      "journal-title": "Ann Neurol"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF54",
      "doi-asserted-by": "crossref",
      "first-page": "116",
      "DOI": "10.1053/jhep.2001.25921",
      "article-title": "Navajo neurohepatopathy: A mitochondrial DNA depletion syndrome?",
      "volume": "34",
      "author": "Vu",
      "year": "2001",
      "journal-title": "Hepatology"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF55",
      "doi-asserted-by": "crossref",
      "first-page": "209",
      "DOI": "10.1212/WNL.42.1.209",
      "article-title": "Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA",
      "volume": "42",
      "author": "Tritschler",
      "year": "1992",
      "journal-title": "Neurology"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF56",
      "doi-asserted-by": "crossref",
      "first-page": "323",
      "DOI": "10.1007/BF02435967",
      "article-title": "Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts",
      "volume": "15",
      "author": "Telerman-Toppet",
      "year": "1992",
      "journal-title": "J Inherit Metab Dis"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF57",
      "doi-asserted-by": "crossref",
      "first-page": "105",
      "DOI": "10.1016/0022-510X(92)90195-Q",
      "article-title": "Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement",
      "volume": "108",
      "author": "Figarella-Branger",
      "year": "1992",
      "journal-title": "J Neurol Sci"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF58",
      "doi-asserted-by": "crossref",
      "first-page": "896",
      "DOI": "10.1016/S0022-3476(05)80335-X",
      "article-title": "Fatal infantile liver failure associated with mitochondrial DNA depletion",
      "volume": "121",
      "author": "Mazziotta",
      "year": "1992",
      "journal-title": "J Pediat"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF59",
      "doi-asserted-by": "crossref",
      "first-page": "1374",
      "DOI": "10.1006/bbrc.1994.1603",
      "article-title": "Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion",
      "volume": "200",
      "author": "Larsson",
      "year": "1994",
      "journal-title": "Biochem Biophys Res Comm"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF60",
      "doi-asserted-by": "crossref",
      "first-page": "547",
      "DOI": "10.1007/BF00868806",
      "article-title": "Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study",
      "volume": "242",
      "author": "Mariotti",
      "year": "1995",
      "journal-title": "J Neurol"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF61",
      "doi-asserted-by": "crossref",
      "first-page": "4",
      "DOI": "10.1007/BF00711367",
      "article-title": "Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome?",
      "volume": "18",
      "author": "Poulton",
      "year": "1995",
      "journal-title": "J Inherit Metab Dis"
    },
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      "key": "10.1006/scdb.2001.0279_RF62",
      "doi-asserted-by": "crossref",
      "first-page": "557",
      "DOI": "10.1007/BF02074834",
      "article-title": "Early-onset fatal encephalomyopathy associated with severe mtDNA depletion",
      "volume": "154",
      "author": "Paquis-Flucklinger",
      "year": "1995",
      "journal-title": "Eur J Pediatr"
    },
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      "key": "10.1006/scdb.2001.0279_RF63",
      "doi-asserted-by": "crossref",
      "first-page": "203",
      "DOI": "10.1016/0887-8994(96)00018-5",
      "article-title": "Mitochondrial DNA depletion: Prevalence in a pediatric population referred for neurologic evaluation",
      "volume": "14",
      "author": "Macmillan",
      "year": "1996",
      "journal-title": "Pediatr Neurol"
    },
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      "first-page": "153",
      "DOI": "10.1016/0887-8994(96)00118-X",
      "article-title": "Mitochondrial myopathy simulating spinal muscular atrophy",
      "volume": "15",
      "author": "Pons",
      "year": "1996",
      "journal-title": "Pediatr Neurol"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF65",
      "doi-asserted-by": "crossref",
      "first-page": "1783",
      "DOI": "10.1212/WNL.50.6.1783",
      "article-title": "Clinical manifestations of mitochondrial depletion",
      "volume": "50",
      "author": "Vu",
      "year": "1998",
      "journal-title": "Neurology"
    },
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      "first-page": "1190",
      "DOI": "10.1212/WNL.51.4.1190",
      "article-title": "Mitochondrial DNA depletion in a patient with long survival",
      "volume": "51",
      "author": "Vu",
      "year": "1998",
      "journal-title": "Neurology"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF67",
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      "first-page": "568",
      "DOI": "10.1016/S0960-8966(98)00080-7",
      "article-title": "Clinical heterogeneity associated with mitochondrial DNA depletion in muscle",
      "volume": "8",
      "author": "Campos",
      "year": "1998",
      "journal-title": "Neuromuscul Disord"
    },
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      "first-page": "1374",
      "DOI": "10.1002/(SICI)1097-4598(199811)21:11<1374::AID-MUS3>3.0.CO;2-6",
      "article-title": "Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction",
      "volume": "21",
      "author": "Sciacco",
      "year": "1998",
      "journal-title": "Muscle Nerve"
    },
    {
      "key": "10.1006/scdb.2001.0279_RF69",
      "doi-asserted-by": "crossref",
      "first-page": "400",
      "DOI": "10.1023/A:1005306725644",
      "article-title": "MtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy",
      "volume": "21",
      "author": "Kirches",
      "year": "1998",
      "journal-title": "J Inherit Metab Dis"
    },
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      "key": "10.1006/scdb.2001.0279_RF70",
      "doi-asserted-by": "crossref",
      "first-page": "935",
      "DOI": "10.1093/hmg/6.6.935",
      "article-title": "Molecular mechanisms in mitochondrial DNA depletion syndrome",
      "volume": "6",
      "author": "Taanman",
      "year": "1997",
      "journal-title": "Hum Mol Gen"
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