-
1
-
-
0032576724
-
Energy transduction in ATP synthase
-
Elston T, Wang H, Oster G. Energy transduction in ATP synthase. Nature 1998;391:510-3.
-
(1998)
Nature
, vol.391
, pp. 510-513
-
-
Elston, T.1
Wang, H.2
Oster, G.3
-
2
-
-
0035910414
-
The rotary machine of the cell, ATP synthase
-
Noji H, Yoshida M. The rotary machine of the cell, ATP synthase. J Biol Chem 2001;276:1665-8.
-
(2001)
J Biol Chem
, vol.276
, pp. 1665-1668
-
-
Noji, H.1
Yoshida, M.2
-
3
-
-
0034956801
-
Epidemiology and treatment of mitochondrial disorders
-
Chinnery PF, Turnbull DM. Epidemiology and treatment of mitochondrial disorders. Am J Med Genet 2001;106:94-101.
-
(2001)
Am J Med Genet
, vol.106
, pp. 94-101
-
-
Chinnery, P.F.1
Turnbull, D.M.2
-
4
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717-9.
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
5
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-30.
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
-
6
-
-
0037158599
-
Paternal inheritance of mitochondrial DNA
-
Schwartz M, Vissing J. Paternal inheritance of mitochondrial DNA. N Engl J Med 2002;347:576-80.
-
(2002)
N Engl J Med
, vol.347
, pp. 576-580
-
-
Schwartz, M.1
Vissing, J.2
-
7
-
-
0036132915
-
Mitochondrial encephalomyopathies: Gene mutation
-
Servidei S. Mitochondrial encephalomyopathies: gene mutation. Neuromuscul Disord 2002;12:101-10.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 101-110
-
-
Servidei, S.1
-
8
-
-
0002629236
-
Mitochondrial encephalomyopathies
-
Rosenberg RN, Prusiner S, DiMauro S, Barchi RL, eds. Boston: Butterworth-Heinemann
-
DiMauro S, Bonilla E. Mitochondrial encephalomyopathies. In: Rosenberg RN, Prusiner S, DiMauro S, Barchi RL, eds. The molecular and genetic basis of neurological disease. 2nd ed. Boston: Butterworth-Heinemann, 1996:201-35.
-
(1996)
The Molecular and Genetic Basis of Neurological Disease. 2nd Ed.
, pp. 201-235
-
-
DiMauro, S.1
Bonilla, E.2
-
9
-
-
0036372802
-
Clinical features and genetics of myoclonic epilepsy with ragged red fibers
-
Fahn S, Frucht SJ, eds. Philadelphia: Lippincott Williams & Wilkins
-
DiMauro S, Hirano M, Kaufmann P, et al. Clinical features and genetics of myoclonic epilepsy with ragged red fibers. In: Fahn S, Frucht SJ, eds. Myoclonus and paroxysmal dyskinesia. Philadelphia: Lippincott Williams & Wilkins, 2002:217-29.
-
(2002)
Myoclonus and Paroxysmal Dyskinesia
, pp. 217-229
-
-
DiMauro, S.1
Hirano, M.2
Kaufmann, P.3
-
10
-
-
77957170634
-
Leber's hereditary optic neuropathy
-
Schapira AHV, DiMauro S, eds. Boston: Butterworth-Heinemann
-
Carelli V. Leber's hereditary optic neuropathy. In: Schapira AHV, DiMauro S, eds. Mitochondrial disorders in neurology. 2nd ed. Boston: Butterworth-Heinemann, 2002:115-42.
-
(2002)
Mitochondrial Disorders in Neurology. 2nd Ed.
, pp. 115-142
-
-
Carelli, V.1
-
11
-
-
0033619147
-
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
-
Andreu AL, Hanna MG, Reichmann H, et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 1999;341:1037-44.
-
(1999)
N Engl J Med
, vol.341
, pp. 1037-1044
-
-
Andreu, A.L.1
Hanna, M.G.2
Reichmann, H.3
-
12
-
-
0028328317
-
A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA
-
Kadowaki T, Kadowaki H, Mori Y, et al. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N Engl J Med 1994;330:962-8.
-
(1994)
N Engl J Med
, vol.330
, pp. 962-968
-
-
Kadowaki, T.1
Kadowaki, H.2
Mori, Y.3
-
14
-
-
0031917201
-
Mitochondrial murations and hearing loss: Paradigm for mitochondrial genetics
-
Fischel-Ghodsian N. Mitochondrial murations and hearing loss: paradigm for mitochondrial genetics. Am J Hum Genet 1998;62:15-9.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 15-19
-
-
Fischel-Ghodsian, N.1
-
15
-
-
0029059278
-
Rearranged mitochondrial genomes are present in human oocytes
-
Chen X, Prosser R, Simonetti S, Sadlock J, Jagiello G, Schon EA. Rearranged mitochondrial genomes are present in human oocytes. Am J Hum Genet 1995;57:239-47.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 239-247
-
-
Chen, X.1
Prosser, R.2
Simonetti, S.3
Sadlock, J.4
Jagiello, G.5
Schon, E.A.6
-
16
-
-
0024448458
-
Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
-
King MP, Attardi G. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 1989;246:500-3.
-
(1989)
Science
, vol.246
, pp. 500-503
-
-
King, M.P.1
Attardi, G.2
-
17
-
-
0026566850
-
Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
-
Tatuch Y, Christodoulou J, Feigenbaum A, et al. Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992;50:852-8.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 852-858
-
-
Tatuch, Y.1
Christodoulou, J.2
Feigenbaum, A.3
-
18
-
-
0031892853
-
Pancreatic beta-cell glucokinase: Closing the gap between theoretical concepts and experimental realities
-
Matschinsky FM, Glaser B, Magnuson MA. Pancreatic beta-cell glucokinase: closing the gap between theoretical concepts and experimental realities. Diabetes 1998;47:307-15.
-
(1998)
Diabetes
, vol.47
, pp. 307-315
-
-
Matschinsky, F.M.1
Glaser, B.2
Magnuson, M.A.3
-
19
-
-
0033548138
-
Role of NADH shuttle system in glucose-induced activation of mitochondrial metabolism and insulin secretion
-
Eto K, Tsubamoto Y, Terauchi Y, et al. Role of NADH shuttle system in glucose-induced activation of mitochondrial metabolism and insulin secretion. Science 1999;283:981-5.
-
(1999)
Science
, vol.283
, pp. 981-985
-
-
Eto, K.1
Tsubamoto, Y.2
Terauchi, Y.3
-
20
-
-
0035857151
-
Diabetes, insulin secretion, and the pancreatic beta-cell mitochondrion
-
Erratum, N Engl J Med 2002;346:634
-
Langin D. Diabetes, insulin secretion, and the pancreatic beta-cell mitochondrion. N Engl J Med 2001;345:1772-4. [Erratum, N Engl J Med 2002;346:634.]
-
(2001)
N Engl J Med
, vol.345
, pp. 1772-1774
-
-
Langin, D.1
-
21
-
-
0033772263
-
Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion in zygotes
-
Inoue K, Nakada K, Ogura A, et al. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion in zygotes. Nat Genet 2000;26:176-81.
-
(2000)
Nat Genet
, vol.26
, pp. 176-181
-
-
Inoue, K.1
Nakada, K.2
Ogura, A.3
-
22
-
-
0034687797
-
Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice
-
Sligh JE, Levy SE, Waymire KG, et al. Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice. Proc Natl Acad Sci U S A 2000;97:14461-6.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 14461-14466
-
-
Sligh, J.E.1
Levy, S.E.2
Waymire, K.G.3
-
23
-
-
0034774689
-
Nuclear gene defects in respiratory chain disorders
-
Shoubridge EA. Nuclear gene defects in respiratory chain disorders. Semin Neurol 2001;21:261-7.
-
(2001)
Semin Neurol
, vol.21
, pp. 261-267
-
-
Shoubridge, E.A.1
-
25
-
-
0029159804
-
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
-
Bourgeron T, Rustin P, Chretien D, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995;11:144-9.
-
(1995)
Nat Genet
, vol.11
, pp. 144-149
-
-
Bourgeron, T.1
Rustin, P.2
Chretien, D.3
-
26
-
-
0034059135
-
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome
-
Parfait B, Chretien D, Rotig A, Marsac C, Munnich A, Rustin P. Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. Hum Genet 2000;106:236-43.
-
(2000)
Hum Genet
, vol.106
, pp. 236-243
-
-
Parfait, B.1
Chretien, D.2
Rotig, A.3
Marsac, C.4
Munnich, A.5
Rustin, P.6
-
27
-
-
0033840193
-
Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene
-
Birch-Machin MA, Taylor RW, Cochran B, Ackrell BA, Turnbull DM. Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene. Ann Neurol 2000;48:330-5.
-
(2000)
Ann Neurol
, vol.48
, pp. 330-335
-
-
Birch-Machin, M.A.1
Taylor, R.W.2
Cochran, B.3
Ackrell, B.A.4
Turnbull, D.M.5
-
28
-
-
0035474099
-
Nuclear genetic defects of oxidative phosphorylation
-
Shoubridge EA. Nuclear genetic defects of oxidative phosphorylation. Hum Mol Genet 2001;10;2277-84.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2277-2284
-
-
Shoubridge, E.A.1
-
29
-
-
0034602950
-
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
-
Baysal BE, Ferrell RE, Willett-Brozick JE, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000;287:848-51.
-
(2000)
Science
, vol.287
, pp. 848-851
-
-
Baysal, B.E.1
Ferrell, R.E.2
Willett-Brozick, J.E.3
-
30
-
-
0033767445
-
Mutations in SDHC cause autosomal dominant paraganglioma, type 3
-
Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000;26:268-70.
-
(2000)
Nat Genet
, vol.26
, pp. 268-270
-
-
Niemann, S.1
Muller, U.2
-
31
-
-
0034671551
-
Somatic and occult germline mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma
-
Gimm O, Armanios M, Dziema H, Neumann HP, Eng C. Somatic and occult germline mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res 2000;60:6822-5.
-
(2000)
Cancer Res
, vol.60
, pp. 6822-6825
-
-
Gimm, O.1
Armanios, M.2
Dziema, H.3
Neumann, H.P.4
Eng, C.5
-
32
-
-
0035836740
-
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency
-
Musumeci O, Naini A, Slonim AE, et al. Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology 2001;56:849-55.
-
(2001)
Neurology
, vol.56
, pp. 849-855
-
-
Musumeci, O.1
Naini, A.2
Slonim, A.E.3
-
33
-
-
17944381521
-
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure
-
de Lonlay Valnot I, Barrientos A, et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 2001;29:57-60.
-
(2001)
Nat Genet
, vol.29
, pp. 57-60
-
-
De Lonlay Valnot, I.1
Barrientos, A.2
-
34
-
-
19044365959
-
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
-
Visapaa I, Fellman V, Vesa J, et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet 2002;71:863-76.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 863-876
-
-
Visapaa, I.1
Fellman, V.2
Vesa, J.3
-
35
-
-
0034951707
-
Cytochrome c oxidase deficiency
-
Shoubridge EA. Cytochrome c oxidase deficiency. Am J Med Genet 2001;106:46-52.
-
(2001)
Am J Med Genet
, vol.106
, pp. 46-52
-
-
Shoubridge, E.A.1
-
36
-
-
0035782927
-
The expanding spectrum of nuclear gene mutations in mitochondrial disorders
-
Zeviani M. The expanding spectrum of nuclear gene mutations in mitochondrial disorders. Semin Cell Dev Biol 2001;12:407-16.
-
(2001)
Semin Cell Dev Biol
, vol.12
, pp. 407-416
-
-
Zeviani, M.1
-
37
-
-
0037221950
-
Mutations in COX15 produce a defectin the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy
-
Antonicka H, Mattman A, Carlson CG, et al. Mutations in COX15 produce a defectin the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am J Hum Genet 2003;72:101-14.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 101-114
-
-
Antonicka, H.1
Mattman, A.2
Carlson, C.G.3
-
38
-
-
0033916718
-
Mitochondrial respiratory chain diseases and mutations in nuclear DNA: A promising start?
-
Sue CM, Schon EA. Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start? Brain Pathol 2000;10:442-50.
-
(2000)
Brain Pathol
, vol.10
, pp. 442-450
-
-
Sue, C.M.1
Schon, E.A.2
-
39
-
-
0035782695
-
Defects of intergenomic communication: Autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA
-
Hirano M, Marti P, Ferreiro-Barros C, et al. Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA. Semin Cell Dev Biol 2001;12:417-27.
-
(2001)
Semin Cell Dev Biol
, vol.12
, pp. 417-427
-
-
Hirano, M.1
Marti, P.2
Ferreiro-Barros, C.3
-
40
-
-
0035956482
-
ANT1, Twinkle POLG TP: New genes open our eyes to ophthalmoplegia
-
Hirano M, DiMauro S. ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. Neurology 2001;57:2163-5.
-
(2001)
Neurology
, vol.57
, pp. 2163-2165
-
-
Hirano, M.1
DiMauro, S.2
-
41
-
-
0026002054
-
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: Clinical, morphologic, and biochemical studies
-
Servidei S, Zeviani M, Manfredi G, et al. Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology 1991;41:1053-9.
-
(1991)
Neurology
, vol.41
, pp. 1053-1059
-
-
Servidei, S.1
Zeviani, M.2
Manfredi, G.3
-
42
-
-
0030898772
-
Autosomal dominant progressive extemal ophthalmoplegia with multiple deletions of mtDNA: Clinical, biochemical, and molecular genetic features of the 10q-linked disease
-
Suomalainen A, Majander A, Wallin M, et al. Autosomal dominant progressive extemal ophthalmoplegia with multiple deletions ofmtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology 1997;48:1244-53.
-
(1997)
Neurology
, vol.48
, pp. 1244-1253
-
-
Suomalainen, A.1
Majander, A.2
Wallin, M.3
-
43
-
-
0029996721
-
Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
-
Bohlega S, Tanji K, Santorelli FM, Hirano M, al-Jishi A, DiMauro S. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 1996;46:1329-34.
-
(1996)
Neurology
, vol.46
, pp. 1329-1334
-
-
Bohlega, S.1
Tanji, K.2
Santorelli, F.M.3
Hirano, M.4
Al-Jishi, A.5
DiMauro, S.6
-
44
-
-
0034096975
-
Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
-
Nishino I, Spinazzola A, Papadimitfiou A, et al. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 2000;47:792-800.
-
(2000)
Ann Neurol
, vol.47
, pp. 792-800
-
-
Nishino, I.1
Spinazzola, A.2
Papadimitfiou, A.3
-
45
-
-
0034604506
-
Role of adenine nucleotide translocator 1 in mtDNA maintenance
-
Kaukonen J, Juselius JK, Tiranti V, et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000;289:782-5.
-
(2000)
Science
, vol.289
, pp. 782-785
-
-
Kaukonen, J.1
Juselius, J.K.2
Tiranti, V.3
-
46
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
-
Erratum, Nat Genet 2001;29:100
-
Spelbrink JN, Li FY, Tiranti V, et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 2001;28:223-31. [Erratum, Nat Genet 2001;29:100.]
-
(2001)
Nat Genet
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
Li, F.Y.2
Tiranti, V.3
-
47
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001;28:211-2.
-
(2001)
Nat Genet
, vol.28
, pp. 211-212
-
-
Van Goethem, G.1
Dermaut, B.2
Lofgren, A.3
Martin, J.J.4
Van Broeckhoven, C.5
-
48
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689-92.
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
49
-
-
0035179561
-
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
-
Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001;29:342-4.
-
(2001)
Nat Genet
, vol.29
, pp. 342-344
-
-
Saada, A.1
Shaag, A.2
Mandel, H.3
Nevo, Y.4
Eriksson, S.5
Elpeleg, O.6
-
50
-
-
0037159255
-
Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA
-
Mancuso M, Salviati L, Sacconi S, et al. Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. Neuropathy 2002;59:1197-202.
-
(2002)
Neuropathy
, vol.59
, pp. 1197-1202
-
-
Mancuso, M.1
Salviati, L.2
Sacconi, S.3
-
51
-
-
0035183256
-
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
-
Erratum, Nat Genet 2001;29:491
-
Mandel H, Szargel R, Labay V, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001;29:337-41. [Erratum, Nat Genet 2001;29:491.]
-
(2001)
Nat Genet
, vol.29
, pp. 337-341
-
-
Mandel, H.1
Szargel, R.2
Labay, V.3
-
52
-
-
0036714964
-
Mitochondrial DNA depletion and dGK gene mutations
-
Salviati L, Sacconi S, Mancuso M, et al. Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol 2002;52:311-7.
-
(2002)
Ann Neurol
, vol.52
, pp. 311-317
-
-
Salviati, L.1
Sacconi, S.2
Mancuso, M.3
-
53
-
-
0034193996
-
The biosynthesis and functional role of cardiolipin
-
Schlame M, Rua D, Greenberg ML. The biosynthesis and functional role of cardiolipin. Prog Lipid Res 2000;39:257-88.
-
(2000)
Prog Lipid Res
, vol.39
, pp. 257-288
-
-
Schlame, M.1
Rua, D.2
Greenberg, M.L.3
-
54
-
-
0033046823
-
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
-
Barth PG, Wanders RJ, Vreken P, Janssen EA, Lam J, Baas F. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060). J Inherit Metab Dis 1999;22:555-67.
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 555-567
-
-
Barth, P.G.1
Wanders, R.J.2
Vreken, P.3
Janssen, E.A.4
Lam, J.5
Baas, F.6
-
55
-
-
0036228186
-
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome
-
Schlame M, Towbin JA, Heerdt PM, Jehle R, DiMauro S, Blanck TJ. Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. Ann Neurol 2002;51:634-7.
-
(2002)
Ann Neurol
, vol.51
, pp. 634-637
-
-
Schlame, M.1
Towbin, J.A.2
Heerdt, P.M.3
Jehle, R.4
DiMauro, S.5
Blanck, T.J.6
-
56
-
-
0037099608
-
The protein import motor of mitochondria: A targeted molecular ratchet driving unfolding and translocation
-
Okamoto K, Brinker A, Paschen SA, et al. The protein import motor of mitochondria: a targeted molecular ratchet driving unfolding and translocation. EMBO J 2002;21:3659-71.
-
(2002)
EMBO J
, vol.21
, pp. 3659-3671
-
-
Okamoto, K.1
Brinker, A.2
Paschen, S.A.3
-
57
-
-
0029075554
-
Mitochondrial protein transport - A system in search of mutations
-
Fenton WA. Mitochondrial protein transport - a system in search of mutations. Am J Hum Genet 1995;57:235-8.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 235-238
-
-
Fenton, W.A.1
-
58
-
-
0036501592
-
Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex
-
Roesch K, Curran SP, Tranebjaerg L, Koehler CM. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet 2002;11:477-86.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 477-486
-
-
Roesch, K.1
Curran, S.P.2
Tranebjaerg, L.3
Koehler, C.M.4
-
59
-
-
0036241765
-
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60
-
Hansen JJ, Durr A, Cournu-Rebeix I, et al. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet 2002;70:1328-32.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1328-1332
-
-
Hansen, J.J.1
Durr, A.2
Cournu-Rebeix, I.3
-
60
-
-
0035853076
-
Arp2/3 complex and actin dynamics are required for actin-based mitochondrial motility in yeast
-
Boldogh IR, Yang HC, Nowakowski WD, et al. Arp2/3 complex and actin dynamics are required for actin-based mitochondrial motility in yeast. Proc Natl Acad Sci U S A 2001;98:3162-7.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 3162-3167
-
-
Boldogh, I.R.1
Yang, H.C.2
Nowakowski, W.D.3
-
61
-
-
0033772264
-
OPA1, eneoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
-
Alexander C, Votruba M, Pesch UE, et al. OPA1, eneoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000;26:211-5.
-
(2000)
Nat Genet
, vol.26
, pp. 211-215
-
-
Alexander, C.1
Votruba, M.2
Pesch, U.E.3
-
62
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
Delettre C, Lenaers G, Griffoin JM, et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000;26:207-10.
-
(2000)
Nat Genet
, vol.26
, pp. 207-210
-
-
Delettre, C.1
Lenaers, G.2
Griffoin, J.M.3
-
63
-
-
0036472291
-
Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia
-
Cavadini P, O'Neill HA, Benada O, Isaya G. Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia. Hum Mol Genet 2002;11:217-27.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 217-227
-
-
Cavadini, P.1
O'Neill, H.A.2
Benada, O.3
Isaya, G.4
-
64
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
Casari G, De Fusco M, Ciarmatori S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998;93:973-83.
-
(1998)
Cell
, vol.93
, pp. 973-983
-
-
Casari, G.1
De Fusco, M.2
Ciarmatori, S.3
-
65
-
-
0032568610
-
Localization of the Wilson's disease protein product to mitochondria
-
Lutsenko S, Cooper MJ. Localization of the Wilson's disease protein product to mitochondria. Proc Natl Acad Sci U S A 1998;95:6004-9.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 6004-6009
-
-
Lutsenko, S.1
Cooper, M.J.2
-
67
-
-
0036843935
-
Mitochondrial abnormalities in muscle and other aging cells: Classification, causes, and effects
-
DiMauro S, Tanji K, Bonilla E, Pallotti F, Schon EA. Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects. Muscle Nerve 2002;26:597-607.
-
(2002)
Muscle Nerve
, vol.26
, pp. 597-607
-
-
DiMauro, S.1
Tanji, K.2
Bonilla, E.3
Pallotti, F.4
Schon, E.A.5
-
68
-
-
0037314215
-
Neuronal degeneration and mitochondrial dysfunction
-
Schon EA, Manfredi G. Neuronal degeneration and mitochondrial dysfunction. J Clin Invest 2003;111:303-12.
-
(2003)
J Clin Invest
, vol.111
, pp. 303-312
-
-
Schon, E.A.1
Manfredi, G.2
-
69
-
-
0034444472
-
Mitochondrial encephalomyopathies: Therapeutic approaches
-
DiMauro S, Hirano M, Schon EA. Mitochondrial encephalomyopathies: therapeutic approaches. Neurol Sci 2000;21:8901-8908.
-
(2000)
Neurol Sci
, vol.21
, pp. 8901-8908
-
-
DiMauro, S.1
Hirano, M.2
Schon, E.A.3
-
70
-
-
0033047456
-
Gene shifting: A novel therapy for mitochondrial myopathy
-
Taivassalo T, Fu K, Johns T, Arnold D, Karpati G, Shoubridge EA. Gene shifting: a novel therapy for mitochondrial myopathy. Hum Mol Genet 1999;8:1047-52.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1047-1052
-
-
Taivassalo, T.1
Fu, K.2
Johns, T.3
Arnold, D.4
Karpati, G.5
Shoubridge, E.A.6
-
71
-
-
0033515548
-
Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene
-
Manfredi G, Gupta N, Vazquez-Memije ME, et al. Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene. J Biol Chem 1999;274:9386-91.
-
(1999)
J Biol Chem
, vol.274
, pp. 9386-9391
-
-
Manfredi, G.1
Gupta, N.2
Vazquez-Memije, M.E.3
-
72
-
-
0030926104
-
Reversal of a mitochondrial DNA defect in human skeletal muscle
-
Clark KM, Bindoff LA, Lightowlers RN, et al. Reversal of a mitochondrial DNA defect in human skeletal muscle. Nat Genet 1997;16:222-4.
-
(1997)
Nat Genet
, vol.16
, pp. 222-224
-
-
Clark, K.M.1
Bindoff, L.A.2
Lightowlers, R.N.3
-
73
-
-
0036420547
-
Gene therapy for mitochondrial disease by delivering restriction endonuclease Smal into mitochondria
-
Tanaka M, Borgeld HJ, Zhang J, et al. Gene therapy for mitochondrial disease by delivering restriction endonuclease Smal into mitochondria. J Biomed Sci 2002;9:534-41.
-
(2002)
J Biomed Sci
, vol.9
, pp. 534-541
-
-
Tanaka, M.1
Borgeld, H.J.2
Zhang, J.3
-
74
-
-
0036544631
-
Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus
-
Manfredi G, Fu J, Ojaimi J, et al. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nat Genet 2002;30:394-9.
-
(2002)
Nat Genet
, vol.30
, pp. 394-399
-
-
Manfredi, G.1
Fu, J.2
Ojaimi, J.3
-
75
-
-
0036830565
-
Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy
-
Guy J, Qi X, Pallotti F, et al. Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy. Ann Neurol 2002;52:534-42.
-
(2002)
Ann Neurol
, vol.52
, pp. 534-542
-
-
Guy, J.1
Qi, X.2
Pallotti, F.3
-
76
-
-
0036855408
-
An algal nucleus-encoded subunit of mitochondrial ATP synthase rescues a defect in the analogous human mitochondrial-encoded subunit
-
Ojaimi J, Pan J, Santra S, Snell WJ, Schon EA. An algal nucleus-encoded subunit of mitochondrial ATP synthase rescues a defect in the analogous human mitochondrial-encoded subunit. Mol Biol Cell 2002;13:3836-44.
-
(2002)
Mol Biol Cell
, vol.13
, pp. 3836-3844
-
-
Ojaimi, J.1
Pan, J.2
Santra, S.3
Snell, W.J.4
Schon, E.A.5
-
77
-
-
0035914437
-
Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDII) gene
-
Bai Y, Hajek P, Chomyn A, et al. Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDII) gene. J Biol Chem 2001;276:38808-13.
-
(2001)
J Biol Chem
, vol.276
, pp. 38808-38813
-
-
Bai, Y.1
Hajek, P.2
Chomyn, A.3
-
78
-
-
0034665704
-
Suppression of mutations in mitochondrial DNA by tRNAs imported from the cytoplasm
-
Kolesnikova OA, Entelis NS, Mireau H, Fox TD, Martin RP, Tarassov IA. Suppression of mutations in mitochondrial DNA by tRNAs imported from the cytoplasm. Science 2000;289:1931-3.
-
(2000)
Science
, vol.289
, pp. 1931-1933
-
-
Kolesnikova, O.A.1
Entelis, N.S.2
Mireau, H.3
Fox, T.D.4
Martin, R.P.5
Tarassov, I.A.6
-
79
-
-
18544374728
-
Altered thymidine metabolism due to defects of thymidine phosphorylase
-
Spinazzola A, Marti R, Nishino I, et al. Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem 2002;277:4128-33.
-
(2002)
J Biol Chem
, vol.277
, pp. 4128-4133
-
-
Spinazzola, A.1
Marti, R.2
Nishino, I.3
-
80
-
-
0035894664
-
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts
-
Jaksch M, Paret C, Stucka R, et al. Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Hum Mol Genet 2001;10:3025-35.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 3025-3035
-
-
Jaksch, M.1
Paret, C.2
Stucka, R.3
-
81
-
-
0037090630
-
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations
-
Salviati L, Hernandez-Rosa E, Walker WF, et al. Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations. Biochem J 2002;363:321-7.
-
(2002)
Biochem J
, vol.363
, pp. 321-327
-
-
Salviati, L.1
Hernandez-Rosa, E.2
Walker, W.F.3
-
82
-
-
78651126508
-
A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical, and morphological study
-
Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. J Clin Invest 1962;41:1776-804.
-
(1962)
J Clin Invest
, vol.41
, pp. 1776-1804
-
-
Luft, R.1
Ikkos, D.2
Palmieri, G.3
Ernster, L.4
Afzelius, B.5
-
83
-
-
0016921885
-
Luft's disease: Further biochemical and ultra-structural studies of skeletal muscle in the second case
-
DiMauro S, Bonilla E, Lee CP, et al. Luft's disease: further biochemical and ultra-structural studies of skeletal muscle in the second case. J Neurol Sci 1976;27:212-32.
-
(1976)
J Neurol Sci
, vol.27
, pp. 212-232
-
-
DiMauro, S.1
Bonilla, E.2
Lee, C.P.3
-
84
-
-
0028558576
-
The development of mitochondrial medicine
-
Luft R. The development of mitochondrial medicine. Proc Natl Acad Sci U S A 1994;91:8731-8.
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, pp. 8731-8738
-
-
Luft, R.1
|