Science 9 December 1988: Vol. 242. no. 4884, pp. 1427 - 1430 DOI: 10.1126/science.3201231

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Articles

Remodeled Respiration in ndufs4 with Low Phosphorylation Efficiency Suppresses Arabidopsis Germination and Growth and Alters Control of Metabolism at Night.

E. H. Meyer, T. Tomaz, A. J. Carroll, G. Estavillo, E. Delannoy, S. K. Tanz, I. D. Small, B. J. Pogson, and A. H. Millar (2009)
Plant Physiology 151, 603-619
 |  Abstract »  |  Full Text »  |  PDF »

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases.

S Rahman and M G Hanna (2009)
J. Neurol. Neurosurg. Psychiatry 80, 943-953
 |  Abstract »  |  Full Text »  |  PDF »

Efficiency and Safety of AAV-Mediated Gene Delivery of the Human ND4 Complex I Subunit in the Mouse Visual System.

J. Guy, X. Qi, R. D. Koilkonda, T. Arguello, T.-H. Chou, M. Ruggeri, V. Porciatti, A. S. Lewin, and W. W. Hauswirth (2009)
Invest. Ophthalmol. Vis. Sci. 50, 4205-4214
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Legionella pneumophila multiplication is enhanced by chronic AMPK signalling in mitochondrially diseased Dictyostelium cells.

L. Francione, P. K. Smith, S. L. Accari, P. E. Taylor, P. B. Bokko, S. Bozzaro, P. L. Beech, and P. R. Fisher (2009)
Dis. Model. Mech. 2, 479-489
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The pathophysiology of mitochondrial disease as modeled in the mouse.

D. C. Wallace and W. Fan (2009)
Genes & Dev. 23, 1714-1736
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Atypical early onset of diabetes, deafness and lung cancer in a male patient with mitochondrial mutations in peripheral mononuclear cells.

S. Suzuki, M. Takei, T. Ehara, S.-i. Nishio, H. Inaba, and K. Hashizume (2009)
BMJ Case Reports 2009, bcr0320091648
 |  Abstract »  |  Full Text »

Mutations in ND Subunits of Complex I Are an Important Genetic Cause of Childhood Mitochondrial Encephalopathies.

Byung Chan Lim, Jun Dong Park, H. Hwang, Ki Joong Kim, Yong Seung Hwang, J.-H. Chae, J.-E. Cheon, In One Kim, R. Lee, and Han Ku Moon (2009)
J Child Neurol 24, 828-832
 |  Abstract »  |  PDF »

Oxidative stress induces degradation of mitochondrial DNA.

I. Shokolenko, N. Venediktova, A. Bochkareva, G. L. Wilson, and M. F. Alexeyev (2009)
Nucleic Acids Res. 37, 2539-2548
 |  Abstract »  |  Full Text »  |  PDF »

Pathogenic mutations of nuclear genes associated with mitochondrial disorders.

X. Zhu, X. Peng, M.-X. Guan, and Q. Yan (2009)
Acta Biochim Biophys Sin 41, 179-187
 |  Abstract »  |  Full Text »  |  PDF »

Inherited mitochondrial optic neuropathies.

P Yu-Wai-Man, P G Griffiths, G Hudson, and P F Chinnery (2009)
J. Med. Genet. 46, 145-158
 |  Abstract »  |  Full Text »  |  PDF »

Dissecting the effects of mtDNA variations on complex traits using mouse conplastic strains.

X. Yu, U. Gimsa, L. Wester-Rosenlof, E. Kanitz, W. Otten, M. Kunz, and S. M. Ibrahim (2009)
Genome Res. 19, 159-165
 |  Abstract »  |  Full Text »  |  PDF »

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

R. Pello, M. A. Martin, V. Carelli, L. G. Nijtmans, A. Achilli, M. Pala, A. Torroni, A. Gomez-Duran, E. Ruiz-Pesini, A. Martinuzzi, et al. (2008)
Hum. Mol. Genet. 17, 4001-4011
 |  Abstract »  |  Full Text »  |  PDF »

Mitochondria as Chi.

D. C. Wallace (2008)
Genetics 179, 727-735
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Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.

J. Rorbach, A. A. Yusoff, H. Tuppen, D. P. Abg-Kamaludin, Z. M.A. Chrzanowska-Lightowlers, R. W. Taylor, D. M. Turnbull, R. McFarland, and R. N. Lightowlers (2008)
Nucleic Acids Res. 36, 3065-3074
 |  Abstract »  |  Full Text »  |  PDF »

Translation of Genetic Discoveries into Clinical Therapies.

D. G. Hackam and A. S. Hackam (2008)
Ann Intern Med 148, 246-247
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Characterization of the NuoM (ND4) Subunit in Escherichia coli NDH-1: CONSERVED CHARGED RESIDUES ESSENTIAL FOR ENERGY-COUPLED ACTIVITIES.

J. Torres-Bacete, E. Nakamaru-Ogiso, A. Matsuno-Yagi, and T. Yagi (2007)
J. Biol. Chem. 282, 36914-36922
 |  Abstract »  |  Full Text »  |  PDF »

Deletion-Mutant mtDNA Increases in Somatic Tissues but Decreases in Female Germ Cells With Age.

A. Sato, K. Nakada, H. Shitara, A. Kasahara, H. Yonekawa, and J.-I. Hayashi (2007)
Genetics 177, 2031-2037
 |  Abstract »  |  Full Text »  |  PDF »

Mechanism of Cell Death Caused by Complex I Defects in a Rat Dopaminergic Cell Line.

M. Marella, B. B. Seo, A. Matsuno-Yagi, and T. Yagi (2007)
J. Biol. Chem. 282, 24146-24156
 |  Abstract »  |  Full Text »  |  PDF »

Heritable Features of the Optic Disc: A Novel Twin Method for Determining Genetic Significance.

A. W. Hewitt, J. P. Poulsen, W. L. M. Alward, S. L. Bennett, W. M. Budde, R. L. Cooper, J. E. Craig, J. H. Fingert, P. J. Foster, D. F. Garway-Heath, et al. (2007)
Invest. Ophthalmol. Vis. Sci. 48, 2469-2475
 |  Abstract »  |  Full Text »  |  PDF »

Male Prevalence of Acquired Color Vision Defects in Asymptomatic Carriers of Leber's Hereditary Optic Neuropathy.

D. F. Ventura, M. Gualtieri, A. G. F. Oliveira, M. F. Costa, P. Quiros, F. Sadun, A. M. de Negri, S. R. Salomao, A. Berezovsky, J. Sherman, et al. (2007)
Invest. Ophthalmol. Vis. Sci. 48, 2362-2370
 |  Abstract »  |  Full Text »  |  PDF »

Use of Mitochondrial Antioxidant Defenses for Rescue of Cells With a Leber Hereditary Optic Neuropathy-Causing Mutation.

X. Qi, L. Sun, W. W. Hauswirth, A. S. Lewin, and J. Guy (2007)
Arch Ophthalmol 125, 268-272
 |  Abstract »  |  Full Text »  |  PDF »

Cell and animal models of mtDNA biology: progress and prospects.

S. M. Khan, R. M. Smigrodzki, and R. H. Swerdlow (2007)
Am J Physiol Cell Physiol 292, C658-C669
 |  Abstract »  |  Full Text »  |  PDF »

The Mutant Human ND4 Subunit of Complex I Induces Optic Neuropathy in the Mouse.

X. Qi, L. Sun, A. S. Lewin, W. W. Hauswirth, and J. Guy (2007)
Invest. Ophthalmol. Vis. Sci. 48, 1-10
 |  Abstract »  |  Full Text »  |  PDF »

Muscle Phenotype and Mutation Load in 51 Persons With the 3243A>G Mitochondrial DNA Mutation.

T. D. Jeppesen, M. Schwartz, A. L. Frederiksen, F. Wibrand, D. B. Olsen, and J. Vissing (2006)
Arch Neurol 63, 1701-1706
 |  Abstract »  |  Full Text »  |  PDF »

The role of the Met98Lys optineurin variant in inherited optic nerve diseases.

J E Craig, A W Hewitt, D P Dimasi, N Howell, C Toomes, A C Cohn, and D A Mackey (2006)
Br J Ophthalmol 90, 1420-1424
 |  Abstract »  |  Full Text »  |  PDF »

Mitochondrial Abnormalities in Patients with LHON-like Optic Neuropathies..

K. K. Abu-Amero and T. M. Bosley (2006)
Invest. Ophthalmol. Vis. Sci. 47, 4211-4220
 |  Abstract »  |  Full Text »  |  PDF »

The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.

M. Kervinen, R. Hinttala, H. M. Helander, S. Kurki, J. Uusimaa, M. Finel, K. Majamaa, and I. E. Hassinen (2006)
Hum. Mol. Genet. 15, 2543-2552
 |  Abstract »  |  Full Text »  |  PDF »

The transmission of OXPHOS disease and methods to prevent this.

L.J.A.M. Jacobs, G. de Wert, J.P.M. Geraedts, I.F.M. de Coo, and H.J.M. Smeets (2006)
Hum. Reprod. Update 12, 119-136
 |  Abstract »  |  Full Text »  |  PDF »

The Novel A4435G Mutation in the Mitochondrial tRNAMet May Modulate the Phenotypic Expression of the LHON-Associated ND4 G11778A Mutation.

J. Qu, R. Li, X. Zhou, Y. Tong, F. Lu, Y. Qian, Y. Hu, J. Q. Mo, C. E. West, and M.-X. Guan (2006)
Invest. Ophthalmol. Vis. Sci. 47, 475-483
 |  Abstract »  |  Full Text »  |  PDF »

Nuclear Suppression of Mitochondrial Defects in Cells without the ND6 Subunit.

J.-H. Deng, Y. Li, J. S. Park, J. Wu, P. Hu, J. Lechleiter, and Y. Bai (2006)
Mol. Cell. Biol. 26, 1077-1086
 |  Abstract »  |  Full Text »  |  PDF »

Colour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study.

P A Quiros, R J Torres, S Salomao, A Berezovsky, V Carelli, J Sherman, F Sadun, A De Negri, R Belfort, and A A Sadun (2006)
Br J Ophthalmol 90, 150-153
 |  Abstract »  |  Full Text »  |  PDF »

mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences.

M. Ingman and U. Gyllensten (2006)
Nucleic Acids Res. 34, D749-D751
 |  Abstract »  |  Full Text »  |  PDF »

Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage.

C. Perier, K. Tieu, C. Guegan, C. Caspersen, V. Jackson-Lewis, V. Carelli, A. Martinuzzi, M. Hirano, S. Przedborski, and M. Vila (2005)
PNAS 102, 19126-19131
 |  Abstract »  |  Full Text »  |  PDF »

Case 36-2005 -- A 61-Year-Old Woman with Seizure, Disturbed Gait, and Altered Mental Status..

B. C. Dickerson, D. Holtzman, P. E. Grant, and D. Tian (2005)
N. Engl. J. Med. 353, 2271-2280
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Leber Hereditary Optic Neuropathy: Biochemical Lights in a Blurry Scenario.

M. Hirano and S. DiMauro (2005)
Arch Neurol 62, 711-712
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Severe Impairment of Complex I-Driven Adenosine Triphosphate Synthesis in Leber Hereditary Optic Neuropathy Cybrids.

A. Baracca, G. Solaini, G. Sgarbi, G. Lenaz, A. Baruzzi, A. H. V. Schapira, A. Martinuzzi, and V. Carelli (2005)
Arch Neurol 62, 730-736
 |  Abstract »  |  Full Text »  |  PDF »

Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process.

S. R. Danielson, V. Carelli, G. Tan, A. Martinuzzi, A. H. V. Schapira, M.-L. Savontaus, and G. A. Cortopassi (2005)
Brain 128, 1026-1037
 |  Abstract »  |  Full Text »  |  PDF »

Mitochondria and Cancer: Warburg Addressed.

D.C. WALLACE (2005)
Cold Spring Harb Symp Quant Biol 70, 363-374
 |  Abstract »  |  PDF »

Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines.

S. Beretta, L. Mattavelli, G. Sala, L. Tremolizzo, A. H.V. Schapira, A. Martinuzzi, V. Carelli, and C. Ferrarese (2004)
Brain 127, 2183-2192
 |  Abstract »  |  Full Text »  |  PDF »

Mitochondrial disorders.

M. Zeviani and S. Di Donato (2004)
Brain 127, 2153-2172
 |  Abstract »  |  Full Text »  |  PDF »

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.

P Reynier, P Amati-Bonneau, C Verny, A Olichon, G Simard, A Guichet, C Bonnemains, F Malecaze, M C Malinge, J B Pelletier, et al. (2004)
J. Med. Genet. 41, e110
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Increased 8-Hydroxy-2'-Deoxyguanosine in Leukocyte DNA in Leber's Hereditary Optic Neuropathy.

M.-Y. Yen, S.-H. Kao, A.-G. Wang, and Y.-H. Wei (2004)
Invest. Ophthalmol. Vis. Sci. 45, 1688-1691
 |  Abstract »  |  Full Text »  |  PDF »

The consequences of nuclear transfer for mammalian foetal development and offspring survival. A mitochondrial DNA perspective.

J. C St John, R. E I Lloyd, E. J Bowles, E. C Thomas, and S. El Shourbagy (2004)
Reproduction 127, 631-641
 |  Abstract »  |  Full Text »  |  PDF »

Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy.

B Ceranic and L M Luxon (2004)
J. Neurol. Neurosurg. Psychiatry 75, 626-630
 |  Abstract »  |  Full Text »  |  PDF »

Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees.

P Y W Man, N Howell, D A Mackey, S Norby, T Rosenberg, D M Turnbull, and P F Chinnery (2004)
J. Med. Genet. 41, e41
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Techniques and Pitfalls in the Detection of Pathogenic Mitochondrial DNA Mutations.

C. T. Moraes, D. P. Atencio, J. Oca-Cossio, and F. Diaz (2003)
J. Mol. Diagn. 5, 197-208
 |  Abstract »  |  Full Text »  |  PDF »

Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria from Patients with Complex I Deficiency.

H. Antonicka, I. Ogilvie, T. Taivassalo, R. P. Anitori, R. G. Haller, J. Vissing, N. G. Kennaway, and E. A. Shoubridge (2003)
J. Biol. Chem. 278, 43081-43088
 |  Abstract »  |  Full Text »  |  PDF »

Mitochondrial disorders come full circle.

P. F. Chinnery (2003)
Neurology 61, 878-880
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The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients.

D. Skladal, C. Sudmeier, V. Konstantopoulou, S. Stockler-Ipsiroglu, B. Plecko-Startinig, G. Bernert, J. Zeman, and W. Sperl (2003)
Clinical Pediatrics 42, 703-710
 |  Abstract »  |  PDF »

Mitochondria.

P F Chinnery and E A Schon (2003)
J. Neurol. Neurosurg. Psychiatry 74, 1188-1199
 |  Abstract »  |  Full Text »  |  PDF »

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

M. K. Strand, G. R. Stuart, M. J. Longley, M. A. Graziewicz, O. C. Dominick, and W. C. Copeland (2003)
Eukaryot. Cell 2, 809-820
 |  Abstract »  |  Full Text »  |  PDF »

Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy.

R W Taylor, M S Jobling, D M Turnbull, and P F Chinnery (2003)
J. Med. Genet. 40, e85-85
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Retinal and Optic Disc Atrophy Associated With a CACNA1F Mutation in a Japanese Family.

M. Nakamura, S. Ito, C.-H. Piao, H. Terasaki, and Y. Miyake (2003)
Arch Ophthalmol 121, 1028-1033
 |  Abstract »  |  Full Text »  |  PDF »

Mitochondrial Respiratory-Chain Diseases.

S. DiMauro and E. A. Schon (2003)
N. Engl. J. Med. 348, 2656-2668
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A homoplasmic mitochondrial transfer Ribonucleic Acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

R. W. Taylor, C. Giordano, M. M. Davidson, G. d'Amati, H. Bain, C. M. Hayes, H. Leonard, M. J. Barron, C. Casali, F. M. Santorelli, et al. (2003)
J. Am. Coll. Cardiol. 41, 1786-1796
 |  Abstract »  |  Full Text »  |  PDF »

Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA.

M. Deschauer, C. Bamberg, D. Claus, S. Zierz, D.M. Turnbull, and R.W. Taylor (2003)
Neurology 60, 1357-1359
 |  Abstract »  |  Full Text »  |  PDF »

Optic Neuropathy Induced by Reductions in Mitochondrial Superoxide Dismutase.

X. Qi, A. S. Lewin, W. W. Hauswirth, and J. Guy (2003)
Invest. Ophthalmol. Vis. Sci. 44, 1088-1096
 |  Abstract »  |  Full Text »  |  PDF »

Leber's Hereditary Optic Neuropathy (LHON) Pathogenic Mutations Induce Mitochondrial-dependent Apoptotic Death in Transmitochondrial Cells Incubated with Galactose Medium.

A. Ghelli, C. Zanna, A. M. Porcelli, A. H. V. Schapira, A. Martinuzzi, V. Carelli, and M. Rugolo (2003)
J. Biol. Chem. 278, 4145-4150
 |  Abstract »  |  Full Text »  |  PDF »

A colony color method identifies the vulnerability of mitochondria to oxidative damage.

G. Kim, H. Sikder, and K. K. Singh (2002)
Mutagenesis 17, 375-381
 |  Abstract »  |  Full Text »  |  PDF »

A Comprehensive Survey of Mutations in the OPA1 Gene in Patients with Autosomal Dominant Optic Atrophy.

D. L. Thiselton, C. Alexander, J.-W. Taanman, S. Brooks, T. Rosenberg, H. Eiberg, S. Andreasson, N. Van Regemorter, F. L. Munier, A. T. Moore, et al. (2002)
Invest. Ophthalmol. Vis. Sci. 43, 1715-1724
 |  Abstract »  |  Full Text »  |  PDF »

Leber hereditary optic neuropathy.

P Y W Man, D M Turnbull, and P F Chinnery (2002)
J. Med. Genet. 39, 162-169
 |  Abstract »  |  Full Text »  |  PDF »

A Human Mitochondrial Transcription Factor Is Related to RNA Adenine Methyltransferases and Binds S-Adenosylmethionine.

V. McCulloch, B. L. Seidel-Rogol, and G. S. Shadel (2002)
Mol. Cell. Biol. 22, 1116-1125
 |  Abstract »  |  Full Text »  |  PDF »

Cells Bearing Mutations Causing Leber's Hereditary Optic Neuropathy Are Sensitized to Fas-induced Apoptosis.

S. R. Danielson, A. Wong, V. Carelli, A. Martinuzzi, A. H. V. Schapira, and G. A. Cortopassi (2002)
J. Biol. Chem. 277, 5810-5815
 |  Abstract »  |  Full Text »  |  PDF »

Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells.

A. Wong, L. Cavelier, H. E. Collins-Schramm, M. F. Seldin, M. McGrogan, M.-L. Savontaus, and G. A. Cortopassi (2002)
Hum. Mol. Genet. 11, 431-438
 |  Abstract »  |  Full Text »  |  PDF »

The Other Human Genome.

A. L. Shanske, S. Shanske, and S. DiMauro (2001)
Arch Pediatr Adolesc Med 155, 1210-1216
 |  Abstract »  |  Full Text »  |  PDF »

Identification of a Mononucleotide Repeat as a Major Target for Mitochondrial DNA Alterations in Human Tumors.

M. Sanchez-Cespedes, P. Parrella, S. Nomoto, D. Cohen, Y. Xiao, M. Esteller, C. Jeronimo, R. C. K. Jordan, T. Nicol, W. M. Koch, et al. (2001)
Cancer Res. 61, 7015-7019
 |  Abstract »  |  Full Text »  |  PDF »

Mitochondrial Disease : A Pulmonary and Critical-Care Medicine Perspective.

A. S. Clay, M. Behnia, and K. K. Brown (2001)
Chest 120, 634-648
 |  Abstract »  |  Full Text »  |  PDF »

Unique Mutations in Mitochondrial DNA of Senescence-Accelerated Mouse (SAM) Strains.

J. Mizutani, T. Chiba, M. Tanaka, K. Higuchi, and M. Mori (2001)
J. Hered. 92, 352-355
 |  Abstract »  |  Full Text »  |  PDF »

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

C. Toomes, N. J. Marchbank, D. A. Mackey, J. E. Craig, R. A. Newbury-Ecob, C. P. Bennett, C. J. Vize, S. P. Desai, G. C.M. Black, N. Patel, et al. (2001)
Hum. Mol. Genet. 10, 1369-1378
 |  Abstract »  |  Full Text »  |  PDF »

Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.

D. Sternberg, E. Chatzoglou, P. Laforet, G. Fayet, C. Jardel, P. Blondy, M. Fardeau, S. Amselem, B. Eymard, and A. Lombes (2001)
Brain 124, 984-994
 |  Abstract »  |  Full Text »  |  PDF »

Magnetic resonance imaging, magnetisation transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber's hereditary optic neuropathy.

M Inglese, M Rovaris, S Bianchi, L L. Mantia, G L Mancardi, A Ghezzi, P Montagna, F Salvi, and M Filippi (2001)
J. Neurol. Neurosurg. Psychiatry 70, 444-449
 |  Abstract »  |  Full Text »  |  PDF »

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

P. F. Chinnery, D. T. Brown, R. M. Andrews, R. Singh-Kler, P. Riordan-Eva, J. Lindley, D. A. Applegarth, D. M. Turnbull, and N. Howell (2001)
Brain 124, 209-218
 |  Abstract »  |  Full Text »  |  PDF »

A novel mutation in the mitochondrial tRNATyr gene associated with exercise intolerance.

T. Pulkes, A. Siddiqui, J. A. Morgan-Hughes, and M. G. Hanna (2000)
Neurology 55, 1210-1212
 |  Abstract »  |  Full Text »  |  PDF »

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.

B. J. C. van den Bosch, R. F. M. de Coo, H. R. Scholte, J. G. Nijland, R. van den Bogaard, M. de Visser, C. E. M. de Die-Smulders, and H. J. M. Smeets (2000)
Nucleic Acids Res. 28, e89
 |  Abstract »  |  Full Text »  |  PDF »

`Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation.

R. Lodi, P. Montagna, P. Cortelli, S. Iotti, S. Cevoli, V. Carelli, and B. Barbiroli (2000)
Brain 123, 1896-1902
 |  Abstract »  |  Full Text »  |  PDF »

Variable pattern of visual recovery of Leber's hereditary optic neuropathy.

M. Nakamura and M. Yamamoto (2000)
Br J Ophthalmol 84, 534-535
 |  Abstract »  |  Full Text »

Leber's hereditary optic neuropathy and maturity onset diabetes mellitus: is there a metabolic association?.

A. COLE and G. N DUTTON (2000)
Br J Ophthalmol 84, 439a-439
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Neurologic Presentations of Mitochondrial Disorders.

A. Nissenkorn, A. Zeharia, D. Lev, N. Watemberg, A. Fattal-Valevski, V. Barash, A. Gutman, S. Harel, and T. Lerman-Sagie (2000)
J Child Neurol 15, 44-48
 |  Abstract »  |  PDF »

Linkage Disequilibrium and Recombination in Hominid Mitochondrial DNA.

P. Awadalla, A. Eyre-Walker, and J. M. Smith (1999)
Science 286, 2524-2525
 |  Abstract »  |  Full Text »

Threshold Effect and Tissue Specificity. IMPLICATION FOR MITOCHONDRIAL CYTOPATHIES.

R. Rossignol, M. Malgat, J.-P. Mazat, and T. Letellier (1999)
J. Biol. Chem. 274, 33426-33432
 |  Abstract »  |  Full Text »  |  PDF »

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

F. Y. Li, M. Tariq, R. Croxen, K. Morten, W. Squier, J. Newsom-Davis, D. Beeson, and C. Larsson (1999)
Neurology 53, 1265
 |  Abstract »  |  Full Text »

The Other Genome.

W. D. Parker Jr (1999)
Clin. Chem. 45, 1129-1130
 |  Full Text »  |  PDF »

Titrating the Effects of Mitochondrial Complex I Impairment in the Cell Physiology.

A. Barrientos and C. T. Moraes (1999)
J. Biol. Chem. 274, 16188-16197
 |  Abstract »  |  Full Text »  |  PDF »

Clinical mitochondrial genetics.

P. F Chinnery, N. Howell, R. M Andrews, and D. M Turnbull (1999)
J. Med. Genet. 36, 425-436
 |  Abstract »  |  Full Text »

Mitochondrial Diseases in Man and Mouse.

D. C. Wallace (1999)
Science 283, 1482-1488
 |  Abstract »  |  Full Text »

Mitochondria and dystonia: The movement disorder connection?.

D. C. Wallace and D. G. Murdock (1999)
PNAS 96, 1817-1819
 |  Full Text »  |  PDF »

The Deafness-Associated Mitochondrial DNA Mutation at Position 7445, Which Affects tRNASer(UCN) Precursor Processing, Has Long-Range Effects on NADH Dehydrogenase Subunit ND6 Gene Expression.

M.-X. Guan, J. A. Enriquez, N. Fischel-Ghodsian, R. S. Puranam, C. P. Lin, M. A. Maw, and G. Attardi (1998)
Mol. Cell. Biol. 18, 5868-5879
 |  Abstract »  |  Full Text »

Human Xenomitochondrial Cybrids. CELLULAR MODELS OF MITOCHONDRIAL COMPLEX I DEFICIENCY.

A. Barrientos, L. Kenyon, and C. T. Moraes (1998)
J. Biol. Chem. 273, 14210-14217
 |  Abstract »  |  Full Text »  |  PDF »

Mitochondrial DNA and Diseases of the Nervous System: The Spectrum.

S. Dimauro and E. A. Schon (1998)
Neuroscientist 4, 53-63
 |  Abstract »  |  PDF »

Ancient mtDNA sequences in the human nuclear genome: A potential source of errors in identifying pathogenic mutations.

D. C. Wallace, C. Stugard, D. Murdock, T. Schurr, and M. D. Brown (1997)
PNAS 94, 14900-14905
 |  Abstract »  |  Full Text »  |  PDF »

Alternative, Noninvasive Tissues for Quantitative Screening of Mutant Mitochondrial DNA.

L.-J. C. Wong and C.-W. Lam (1997)
Clin. Chem. 43, 1241-1243
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A case of Leber's hereditary optic neuropathy with elevated blood levels of lactate and pyruvate.

T. NINOMIYA, H. YAMAZAKI, S. MUNAKATA, H. YOSHINO, and T. SATO (1997)
Br J Ophthalmol 81, 421c-421
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Impairment of central and peripheral myelin in mitochondrial diseases.

B. Kalman, F. D Lublin, and H. Alder (1997)
Multiple Sclerosis 2, 267-278
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Mammalian Mitochondria Possess Homologous DNA Recombination Activity.

B. Thyagarajan, R. A. Padua, and C. Campbell (1996)
J. Biol. Chem. 271, 27536-27543
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Respiration and Growth Defects in Transmitochondrial Cell Lines Carrying the 11778 Mutation Associated with Leber's Hereditary Optic Neuropathy.

G. Hofhaus, D. R. Johns, O. Hurko, G. Attardi, and A. Chomyn (1996)
J. Biol. Chem. 271, 13155-13161
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Leber's Congenital Amaurosis Associated With Mitochondrial Dysfunction.

M. Castro-Gago, E. Pintos-Martinez, A. Beiras-Iglesias, S. Maroto, Y. Campos, J. Arenas, and J. Eiris-Punal (1996)
J Child Neurol 11, 108-111
 |  Abstract »  |  PDF »

Normal Respiratory Chain Function in Patients With Low-tension Glaucoma.

E. J. Brierley, P. G. Griffiths, K. Weber, M. A. Johnson, and D. M. Turnbull (1996)
Arch Ophthalmol 114, 142-146
 |  Abstract »  |  PDF »

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