-
1
-
-
48249149059
-
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance
-
Akman HO, Dorado B, Lopez LC, Garcia-Cazorla A, Vila MR, Tanabe LM, Dauer WT, Bonilla E, Tanji K, Hirano M (2008) Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. Hum Mol Genet 17:2433-2440
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2433-2440
-
-
Akman, H.O.1
Dorado, B.2
Lopez, L.C.3
Garcia-Cazorla, A.4
Vila, M.R.5
Tanabe, L.M.6
Dauer, W.T.7
Bonilla, E.8
Tanji, K.9
Hirano, M.10
-
2
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S et al (1981) Sequence and organization of the human mitochondrial genome. Nature 290: 457-465.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
-
4
-
-
24144490027
-
Mitochondrial DNA segregation in hematopoietic lineages does not depend on MHC presentation of mitochondrially encoded peptides
-
Battersby BJ, Redpath ME, Shoubridge EA (2005) Mitochondrial DNA segregation in hematopoietic lineages does not depend on MHC presentation of mitochondrially encoded peptides. Hum Mol Genet 14: 2587-2594
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2587-2594
-
-
Battersby, B.J.1
Redpath, M.E.2
Shoubridge, E.A.3
-
5
-
-
34249811206
-
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
-
Bourdon A et al (2007) Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 39: 776-780
-
(2007)
Nat Genet
, vol.39
, pp. 776-780
-
-
Bourdon, A.1
-
6
-
-
0345354684
-
Failure to produce mitochondrial DNA results in embryonic lethality in Rnaseh1 null mice
-
Cerritelli SM, Frolova EG, Feng C, Grinberg A, Love PE, Crouch RJ (2003) Failure to produce mitochondrial DNA results in embryonic lethality in Rnaseh1 null mice. Mol Cell 11: 807-815
-
(2003)
Mol Cell
, vol.11
, pp. 807-815
-
-
Cerritelli, S.M.1
Frolova, E.G.2
Feng, C.3
Grinberg, A.4
Love, P.E.5
Crouch, R.J.6
-
7
-
-
33745274726
-
Mitochondria: Dynamic organelles in disease, aging, and development
-
Chan DC (2006) Mitochondria: Dynamic organelles in disease, aging, and development. Cell 125: 1241-1252
-
(2006)
Cell
, vol.125
, pp. 1241-1252
-
-
Chan, D.C.1
-
8
-
-
38649091334
-
A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes
-
Cree LM, Samuels DC, de Sousa Lopes SC, Rajasimha HK, Wonnapinij P, Mann JR, Dahl HH, Chinnery PF (2008) A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes. Nat Genet 40: 249-254
-
(2008)
Nat Genet
, vol.40
, pp. 249-254
-
-
Cree, L.M.1
Samuels, D.C.2
de Sousa Lopes, S.C.3
Rajasimha, H.K.4
Wonnapinij, P.5
Mann, J.R.6
Dahl, H.H.7
Chinnery, P.F.8
-
9
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
DiMauro S, Schon EA (2003) Mitochondrial respiratory-chain diseases. N Engl J Med 348: 2656-2668
-
(2003)
N Engl J Med
, vol.348
, pp. 2656-2668
-
-
DiMauro, S.1
Schon, E.A.2
-
10
-
-
2442431673
-
Mitochondrial transcription factor A regulates mtDNA copy number in mammals
-
Ekstrand MI, Falkenberg M, Rantanen A, Park CB, Gaspari M, Hultenby K, Rustin P, Gustafsson CM, Larsson NG (2004) Mitochondrial transcription factor A regulates mtDNA copy number in mammals. Hum Mol Genet 13: 935-944
-
(2004)
Hum Mol Genet
, vol.13
, pp. 935-944
-
-
Ekstrand, M.I.1
Falkenberg, M.2
Rantanen, A.3
Park, C.B.4
Gaspari, M.5
Hultenby, K.6
Rustin, P.7
Gustafsson, C.M.8
Larsson, N.G.9
-
11
-
-
33846636481
-
Progressive parkinsonism in mice with respiratory-chain-deficient dopamine neurons
-
Ekstrand MI et al (2007) Progressive parkinsonism in mice with respiratory-chain-deficient dopamine neurons. Proc Natl Acad Sci USA 104: 1325-1330
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 1325-1330
-
-
Ekstrand, M.I.1
-
12
-
-
48349097445
-
Pathogenic mitochondrial DNA mutations are common in the general population
-
Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF (2008) Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet 83: 254-260
-
(2008)
Am J Hum Genet
, vol.83
, pp. 254-260
-
-
Elliott, H.R.1
Samuels, D.C.2
Eden, J.A.3
Relton, C.L.4
Chinnery, P.F.5
-
13
-
-
39349105943
-
A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations
-
Fan W, Waymire KG, Narula N, Li P, Rocher C, Coskun PE, Vannan MA, Narula J, Macgregor GR, Wallace DC (2008) A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations. Science 319: 958-962
-
(2008)
Science
, vol.319
, pp. 958-962
-
-
Fan, W.1
Waymire, K.G.2
Narula, N.3
Li, P.4
Rocher, C.5
Coskun, P.E.6
Vannan, M.A.7
Narula, J.8
Macgregor, G.R.9
Wallace, D.C.10
-
14
-
-
34250833548
-
Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation
-
Finsterer J (2007) Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation. Acta Neurol Scand 116: 1-14
-
(2007)
Acta Neurol Scand
, vol.116
, pp. 1-14
-
-
Finsterer, J.1
-
15
-
-
0023684801
-
Purification and characterization of human mitochondrial transcription factor 1
-
Fisher RP, Clayton DA (1988) Purification and characterization of human mitochondrial transcription factor 1. Mol Cell Biol 8: 3496-3509
-
(1988)
Mol Cell Biol
, vol.8
, pp. 3496-3509
-
-
Fisher, R.P.1
Clayton, D.A.2
-
16
-
-
55749115091
-
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome
-
Götz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpää-Heikkilä O, Valanne L, Marjavaara S, Suomalainen A (2008) Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome. Brain 131: 2841-2850
-
(2008)
Brain
, vol.131
, pp. 2841-2850
-
-
Götz, A.1
Isohanni, P.2
Pihko, H.3
Paetau, A.4
Herva, R.5
Saarenpää-Heikkilä, O.6
Valanne, L.7
Marjavaara, S.8
Suomalainen, A.9
-
17
-
-
0031011211
-
A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator
-
Graham BH, Waymire KG, Cottrell B, Trounce IA, MacGregor GR, Wallace DC (1997) A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Nat Genet 16: 226-234
-
(1997)
Nat Genet
, vol.16
, pp. 226-234
-
-
Graham, B.H.1
Waymire, K.G.2
Cottrell, B.3
Trounce, I.A.4
MacGregor, G.R.5
Wallace, D.C.6
-
18
-
-
33644635644
-
DNA polymerase gamma in mitochondrial DNA replication and repair
-
Graziewicz MA, Longley MJ, Copeland WC (2006) DNA polymerase gamma in mitochondrial DNA replication and repair. Chem Rev 106: 383-405
-
(2006)
Chem Rev
, vol.106
, pp. 383-405
-
-
Graziewicz, M.A.1
Longley, M.J.2
Copeland, W.C.3
-
19
-
-
23944508509
-
Mitochondrial DNA polymerase W748S mutation: A common cause of autosomal recessive ataxia with ancient European origin
-
Hakonen AH et al (2005) Mitochondrial DNA polymerase W748S mutation: A common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 77: 430-441
-
(2005)
Am J Hum Genet
, vol.77
, pp. 430-441
-
-
Hakonen, A.H.1
-
20
-
-
26444432919
-
Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis
-
Hance N, Ekstrand MI, Trifunovic A (2005) Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis. Hum Mol Genet 14: 1775-1783
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1775-1783
-
-
Hance, N.1
Ekstrand, M.I.2
Trifunovic, A.3
-
21
-
-
0036291870
-
Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice
-
Haraguchi M et al (2002) Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice. Mol Cell Biol 22: 5212-5221
-
(2002)
Mol Cell Biol
, vol.22
, pp. 5212-5221
-
-
Haraguchi, M.1
-
22
-
-
30044446463
-
A crucial role of mitochondrial Hsp40 in preventing dilated cardiomyopathy
-
Hayashi M, Imanaka-Yoshida K, Yoshida T, Wood M, Fearns C, Tatake RJ, Lee JD (2006) A crucial role of mitochondrial Hsp40 in preventing dilated cardiomyopathy. Nat Med 12: 128-132
-
(2006)
Nat Med
, vol.12
, pp. 128-132
-
-
Hayashi, M.1
Imanaka-Yoshida, K.2
Yoshida, T.3
Wood, M.4
Fearns, C.5
Tatake, R.J.6
Lee, J.D.7
-
23
-
-
51649126499
-
Reverse of age-dependent memory impairment and mitochondrial DNA damage in microglia by an overexpression of human mitochondeial transcription factor a in mice
-
Hayashi Y et al (2008) Reverse of age-dependent memory impairment and mitochondrial DNA damage in microglia by an overexpression of human mitochondeial transcription factor a in mice. J Neurosci 28: 8624-8634
-
(2008)
J Neurosci
, vol.28
, pp. 8624-8634
-
-
Hayashi, Y.1
-
24
-
-
34247853571
-
Targeted transgenic overexpression of mitochondrial thymidine kinase (TK2) alters mitochondrial DNA (mtDNA) and mitochondrial polypeptide abundance: Transgenic TK2, mtDNA, and antiretrovirals
-
Hosseini SH et al (2007) Targeted transgenic overexpression of mitochondrial thymidine kinase (TK2) alters mitochondrial DNA (mtDNA) and mitochondrial polypeptide abundance: Transgenic TK2, mtDNA, and antiretrovirals. Am J Pathol 170: 865-874
-
(2007)
Am J Pathol
, vol.170
, pp. 865-874
-
-
Hosseini, S.H.1
-
25
-
-
33749001168
-
Mitochondrial DNA polymerase-gamma and human disease
-
Hudson G, Chinnery PF (2006) Mitochondrial DNA polymerase-gamma and human disease. Hum Mol Genet 15: R244-R252
-
(2006)
Hum Mol Genet
, vol.15
-
-
Hudson, G.1
Chinnery, P.F.2
-
26
-
-
0035169827
-
Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice
-
Huo L, Scarpulla RC (2001) Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice. Mol Cell Biol 21: 644-654
-
(2001)
Mol Cell Biol
, vol.21
, pp. 644-654
-
-
Huo, L.1
Scarpulla, R.C.2
-
27
-
-
23244452012
-
Overexpression of mitochondrial transcription factor A ameliorates mitochondrial deficiencies and cardiac failure after myocardial infarction
-
Ikeuchi M et al (2005) Overexpression of mitochondrial transcription factor A ameliorates mitochondrial deficiencies and cardiac failure after myocardial infarction. Circulation 112 683-650
-
(2005)
Circulation
, vol.112
, pp. 683-650
-
-
Ikeuchi, M.1
-
28
-
-
0033772263
-
Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes
-
Inoue K, Nakada K, Ogura A, Isobe K, Goto Y, Nonaka I, Hayashi JI (2000) Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat Genet 26: 176-181
-
(2000)
Nat Genet
, vol.26
, pp. 176-181
-
-
Inoue, K.1
Nakada, K.2
Ogura, A.3
Isobe, K.4
Goto, Y.5
Nonaka, I.6
Hayashi, J.I.7
-
29
-
-
0029816795
-
Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA
-
Jenuth JP, Peterson AC, Fu K, Shoubridge EA (1996) Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat Genet 14: 146-151
-
(1996)
Nat Genet
, vol.14
, pp. 146-151
-
-
Jenuth, J.P.1
Peterson, A.C.2
Fu, K.3
Shoubridge, E.A.4
-
30
-
-
2342429459
-
DNA polymerase gamma, the mitochondrial replicase
-
Kaguni LS (2004) DNA polymerase gamma, the mitochondrial replicase. Annu Rev Biochem 73: 293-320
-
(2004)
Annu Rev Biochem
, vol.73
, pp. 293-320
-
-
Kaguni, L.S.1
-
31
-
-
7644237446
-
Architectural role of mitochondrial transcription factor A in maintenance of human mitochondrial DNA
-
Kanki T, Ohgaki K, Gaspari M, Gustafsson CM, Fukuoh A, Sasaki N, Hamasaki N, Kang D (2004) Architectural role of mitochondrial transcription factor A in maintenance of human mitochondrial DNA. Mol Cell Biol 24: 9823-9834
-
(2004)
Mol Cell Biol
, vol.24
, pp. 9823-9834
-
-
Kanki, T.1
Ohgaki, K.2
Gaspari, M.3
Gustafsson, C.M.4
Fukuoh, A.5
Sasaki, N.6
Hamasaki, N.7
Kang, D.8
-
32
-
-
33745712834
-
Mice with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypes
-
Kasahara T. Kubota M, Miyauchi T, Noda Y, Mouri A, Nabeshima T, Kato T (2006) Mice with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypes. Mol Psychiatry 11 577-593
-
(2006)
Mol Psychiatry
, vol.11
, pp. 577-593
-
-
Kasahara, T.1
Kubota, M.2
Miyauchi, T.3
Noda, Y.4
Mouri, A.5
Nabeshima, T.6
Kato, T.7
-
33
-
-
34548495323
-
The mitochondrial transcription factor TFAM coordinates the assembly of multiple DNA molecules into nucleoid-like structures
-
Kaufman BA, Durisic N, Mativetsky JM, Costantino S, Hancock MA, Grutter P, Shoubridge EA (2007) The mitochondrial transcription factor TFAM coordinates the assembly of multiple DNA molecules into nucleoid-like structures. Mol Biol Cell 18: 3225-3236
-
(2007)
Mol Biol Cell
, vol.18
, pp. 3225-3236
-
-
Kaufman, B.A.1
Durisic, N.2
Mativetsky, J.M.3
Costantino, S.4
Hancock, M.A.5
Grutter, P.6
Shoubridge, E.A.7
-
34
-
-
0034604506
-
Role of adenine nucleotide translocator 1 in mtDNA maintenance
-
Kaukonen J, Juselius JK, Tiranti V, Kyttälä A, Zeviani M, Comi GP, Keränen S, Peltonen L, Suomalainen A (2000) Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 289: 782-785
-
(2000)
Science
, vol.289
, pp. 782-785
-
-
Kaukonen, J.1
Juselius, J.K.2
Tiranti, V.3
Kyttälä, A.4
Zeviani, M.5
Comi, G.P.6
Keränen, S.7
Peltonen, L.8
Suomalainen, A.9
-
35
-
-
0042166135
-
Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools
-
Kimura T, Takeda S, Sagiya Y, Gotoh M, Nakamura Y, Arakawa H (2003) Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools. Nat Genet 34: 440-445
-
(2003)
Nat Genet
, vol.34
, pp. 440-445
-
-
Kimura, T.1
Takeda, S.2
Sagiya, Y.3
Gotoh, M.4
Nakamura, Y.5
Arakawa, H.6
-
36
-
-
0025992003
-
Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)
-
Kobayashi Y, Momoi MY, Tominaga K, Shimoizumi H, Nihei K, Yanagisawa M, Kagawa Y, Ohta S (1991) Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). Am J Hum Genet 49: 590-599
-
(1991)
Am J Hum Genet
, vol.49
, pp. 590-599
-
-
Kobayashi, Y.1
Momoi, M.Y.2
Tominaga, K.3
Shimoizumi, H.4
Nihei, K.5
Yanagisawa, M.6
Kagawa, Y.7
Ohta, S.8
-
38
-
-
22344456832
-
Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging
-
Kujoth GC et al (2005) Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging. Science 309: 481-484
-
(2005)
Science
, vol.309
, pp. 481-484
-
-
Kujoth, G.C.1
-
39
-
-
0031930319
-
Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice
-
Larsson NG, Wang J, Wilhelmsson H, Oldfors. A, Rustin P, Lewandoski M, Barsh GS, Clayton DA (1998) Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. Nat Genet 18: 231-236
-
(1998)
Nat Genet
, vol.18
, pp. 231-236
-
-
Larsson, N.G.1
Wang, J.2
Wilhelmsson, H.3
Oldfors, A.4
Rustin, P.5
Lewandoski, M.6
Barsh, G.S.7
Clayton, D.A.8
-
40
-
-
33947537266
-
Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma
-
Lewis W et al (2007) Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma. Lab Invest 87: 326-335
-
(2007)
Lab Invest
, vol.87
, pp. 326-335
-
-
Lewis, W.1
-
41
-
-
0034724327
-
Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy
-
Li H, Wang J, Wilhelmsson H, Hansson A, Thoren P, Duffy J, Rustin P, Larsson NG (2000) Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy. Proc Natl Acad Sci USA 97: 3467-3472
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 3467-3472
-
-
Li, H.1
Wang, J.2
Wilhelmsson, H.3
Hansson, A.4
Thoren, P.5
Duffy, J.6
Rustin, P.7
Larsson, N.G.8
-
42
-
-
0032780102
-
Transmitochondrial mice carrying resistance to chloramphenicol on mitochondrial DNA: Developing the first mouse model of mitochondrial DNA disease
-
Marchington DR, Barlow D, Poulton J (1999) Transmitochondrial mice carrying resistance to chloramphenicol on mitochondrial DNA: Developing the first mouse model of mitochondrial DNA disease. Nat Med 5 957-960
-
(1999)
Nat Med
, vol.5
, pp. 957-960
-
-
Marchington, D.R.1
Barlow, D.2
Poulton, J.3
-
44
-
-
4444293380
-
Accumulation of pathogenic ΔmtDNA induced deafness but not diabetic phenotypes in mito-mice
-
Nakada K, Sato A, Sone H, Kasahara A, Ikeda K, Kagawa Y, Yonekawa H, Hayashi J (2004) Accumulation of pathogenic ΔmtDNA induced deafness but not diabetic phenotypes in mito-mice. Biochem Biophys Res Commun 323: 175-184
-
(2004)
Biochem Biophys Res Commun
, vol.323
, pp. 175-184
-
-
Nakada, K.1
Sato, A.2
Sone, H.3
Kasahara, A.4
Ikeda, K.5
Kagawa, Y.6
Yonekawa, H.7
Hayashi, J.8
-
45
-
-
27544494568
-
Complete loss-of-function of the heart/ muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy
-
Palmieri L et al (2005) Complete loss-of-function of the heart/ muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum Mol Genet 14: 3079-3088
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3079-3088
-
-
Palmieri, L.1
-
46
-
-
0028288558
-
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
-
Reid FM, Vernham GA, Jacobs HT (1994) A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 3: 243-247
-
(1994)
Hum Mutat
, vol.3
, pp. 243-247
-
-
Reid, F.M.1
Vernham, G.A.2
Jacobs, H.T.3
-
47
-
-
0035179561
-
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
-
Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O (2001) Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 29: 342-344
-
(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
-
48
-
-
34247150665
-
Mitochandrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood
-
Sarzi E, Bourdon A, Chretien D, Zarhrate M, Corcos J, Slama A, Cormier-Daire V, de Lonlay P, Munnich A, Rotig A (2007) Mitochandrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr 150: 531-534
-
(2007)
J Pediatr
, vol.150
, pp. 531-534
-
-
Sarzi, E.1
Bourdon, A.2
Chretien, D.3
Zarhrate, M.4
Corcos, J.5
Slama, A.6
Cormier-Daire, V.7
de Lonlay, P.8
Munnich, A.9
Rotig, A.10
-
49
-
-
0025368281
-
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
-
Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC (1990) Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 61 931-937
-
(1990)
Cell
, vol.61
, pp. 931-937
-
-
Shoffner, J.M.1
Lott, M.T.2
Lezza, A.M.3
Seibel, P.4
Ballinger, S.W.5
Wallace, D.C.6
-
50
-
-
0035474099
-
Nuclear genetic defects of oxidative phosphorylation
-
Shoubridge EA (2001) Nuclear genetic defects of oxidative phosphorylation. Hum Mol Genet 10: 2277-2284
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2277-2284
-
-
Shoubridge, E.A.1
-
51
-
-
0037055975
-
Manipulation of mitochondrial DNA gene expression in the mouse
-
Silva JP, Larsson NG (2002) Manipulation of mitochondrial DNA gene expression in the mouse. Biochim Biophys Acta 1555: 106-110
-
(2002)
Biochim Biophys Acta
, vol.1555
, pp. 106-110
-
-
Silva, J.P.1
Larsson, N.G.2
-
52
-
-
0033762782
-
Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes
-
Silva JP, Kohler M, Graff C, Oldfors A, Magnuson MA, Berggren PO, Larsson NG (2000) Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes. Nat Genet 26: 336-340
-
(2000)
Nat Genet
, vol.26
, pp. 336-340
-
-
Silva, J.P.1
Kohler, M.2
Graff, C.3
Oldfors, A.4
Magnuson, M.A.5
Berggren, P.O.6
Larsson, N.G.7
-
53
-
-
0034687797
-
Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice
-
Sligh JE, Levy SE, Waymire KG, Allard P, Dillehay DL, Nusinowitz S, Heckenlively JR, MacGregor GR, Wallace DC (2000) Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice. Proc Natl Acad Sci USA 97: 14461-14466
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 14461-14466
-
-
Sligh, J.E.1
Levy, S.E.2
Waymire, K.G.3
Allard, P.4
Dillehay, D.L.5
Nusinowitz, S.6
Heckenlively, J.R.7
MacGregor, G.R.8
Wallace, D.C.9
-
54
-
-
0035887745
-
Late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice
-
Sorensen L, Ekstrand M, Silva JP, Lindqvist E, Xu B, Rustin P, Olson L. Larsson NG (2001) Late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice. J Neurosci 21: 8082-8090
-
(2001)
J Neurosci
, vol.21
, pp. 8082-8090
-
-
Sorensen, L.1
Ekstrand, M.2
Silva, J.P.3
Lindqvist, E.4
Xu, B.5
Rustin, P.6
Olson, L.7
Larsson, N.G.8
-
55
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
-
Spelbrink JN et al (2001) Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 28: 223-231
-
(2001)
Nat Genet
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
-
56
-
-
17344372911
-
Double-strand breaks of mouse muscle mtDNA promote large deletions similar to multiple mtDNA deletions in humans
-
Srivastava S, Moraes CT (2005) Double-strand breaks of mouse muscle mtDNA promote large deletions similar to multiple mtDNA deletions in humans. Hum Mol Genet 14: 893-902
-
(2005)
Hum Mol Genet
, vol.14
, pp. 893-902
-
-
Srivastava, S.1
Moraes, C.T.2
-
57
-
-
38949091096
-
Strong purifying selection in transmission of mammalian mitochondrial DNA
-
Stewart JB, Freyer C, Elson JL, Wredenberg A, Cansu Z, Trifunovic A, Larsson NG (2008) Strong purifying selection in transmission of mammalian mitochondrial DNA. PLo5 Biol 6: E10
-
(2008)
PLo5 Biol
, vol.6
-
-
Stewart, J.B.1
Freyer, C.2
Elson, J.L.3
Wredenberg, A.4
Cansu, Z.5
Trifunovic, A.6
Larsson, N.G.7
-
58
-
-
0030898772
-
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: Clinical, biochemical, and molecular genetic features of the 10q-linked disease
-
Suomalainen A et al (1997) Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: Clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology 48: 1244-1253
-
(1997)
Neurology
, vol.48
, pp. 1244-1253
-
-
Suomalainen, A.1
-
59
-
-
2642580016
-
Premature ageing in mice expressing defective mitochondrial DNA polymerase
-
Trifunovic A et al (2004) Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429: 417-423
-
(2004)
Nature
, vol.429
, pp. 417-423
-
-
Trifunovic, A.1
-
60
-
-
29144458899
-
Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production
-
Trifunovic A, Hansson A, Wredenberg A, Rovio AT, Dufour E, Khvorostov I, Spelbrink JN, Wibom R, Jacobs HT, Larsson NG (2005) Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production. Proc Natl Acad Sci USA 102: 17993-17998
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 17993-17998
-
-
Trifunovic, A.1
Hansson, A.2
Wredenberg, A.3
Rovio, A.T.4
Dufour, E.5
Khvorostov, I.6
Spelbrink, J.N.7
Wibom, R.8
Jacobs, H.T.9
Larsson, N.G.10
-
61
-
-
19944383101
-
Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number
-
Tyynismaa H, Sembongi H, Bokori-Brown M, Granycome C, Ashley N, Poulton J, Jalanko A, Spelbrink JN, Holt IJ, Suomalainen A (2004) Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number. Hum Mol Genet 13: 3219-3227
-
(2004)
Hum Mol Genet
, vol.13
, pp. 3219-3227
-
-
Tyynismaa, H.1
Sembongi, H.2
Bokori-Brown, M.3
Granycome, C.4
Ashley, N.5
Poulton, J.6
Jalanko, A.7
Spelbrink, J.N.8
Holt, I.J.9
Suomalainen, A.10
-
62
-
-
29144486726
-
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
-
Tyynismaa H, Mjosund KP, Wanrooij S, Lappalainen I, Ylikallio E, Jalanko A, Spelbrink JN, Paetau A, Suomalainen A (2005) Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. Proc Natl Acad Sci USA 102: 17687-17692
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 17687-17692
-
-
Tyynismaa, H.1
Mjosund, K.P.2
Wanrooij, S.3
Lappalainen, I.4
Ylikallio, E.5
Jalanko, A.6
Spelbrink, J.N.7
Paetau, A.8
Suomalainen, A.9
-
63
-
-
57649181749
-
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice
-
Viscomi C, Spinazzola A, Maggioni M, Fernandez-Vizarra E, Massa V, Pagano C, Vettor R, Mora M, Zeviani M (2008) Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. Hum Mol Genet 18: 12-26
-
(2008)
Hum Mol Genet
, vol.18
, pp. 12-26
-
-
Viscomi, C.1
Spinazzola, A.2
Maggioni, M.3
Fernandez-Vizarra, E.4
Massa, V.5
Pagano, C.6
Vettor, R.7
Mora, M.8
Zeviani, M.9
-
64
-
-
0032924872
-
Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression
-
Wang J et al (1999) Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. Nat Genet 21: 133-137
-
(1999)
Nat Genet
, vol.21
, pp. 133-137
-
-
Wang, J.1
-
65
-
-
0025091459
-
Transgenic mouse model of kidney disease: Insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome
-
Weiher H, Noda T, Gray DA, Sharpe AH, Jaenisch R (1990) Transgenic mouse model of kidney disease: Insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome. Cell 62: 425-434
-
(1990)
Cell
, vol.62
, pp. 425-434
-
-
Weiher, H.1
Noda, T.2
Gray, D.A.3
Sharpe, A.H.4
Jaenisch, R.5
-
66
-
-
0037069398
-
Increased mitochondrial mass in mitochondrial myopathy mice
-
Wredenberg A, Wibom R, Wilhelmsson H, Graff C, Wiener HH, Burden SJ, Oldfors A, Westerblad H, Larsson NG (2002) Increased mitochondrial mass in mitochondrial myopathy mice. Proc Natl Acad Sci USA 99: 15066-15071
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 15066-15071
-
-
Wredenberg, A.1
Wibom, R.2
Wilhelmsson, H.3
Graff, C.4
Wiener, H.H.5
Burden, S.J.6
Oldfors, A.7
Westerblad, H.8
Larsson, N.G.9
-
67
-
-
4944260285
-
Mitochondrial disorders
-
Zeviani M, DiDonato S (2004) Mitochondrial disorders. Brain 127 2153-2172
-
(2004)
Brain
, vol.127
, pp. 2153-2172
-
-
Zeviani, M.1
DiDonato, S.2
-
68
-
-
0024601360
-
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
-
Zeviani M, Servidei S, Gellera C, Bertini E, Dimauro S, DiDonato S (1989) An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 339: 309-311
-
(1989)
Nature
, vol.339
, pp. 309-311
-
-
Zeviani, M.1
Servidei, S.2
Gellera, C.3
Bertini, E.4
Dimauro, S.5
DiDonato, S.6
-
69
-
-
0034667349
-
Construction of transgenic mice with tissue-specific acceleration of mitochondrial DNA mutagenesis
-
Zhang D, Mott JL, Chang SW, Denniger G, Feng Z, Zassenhaus HP (2000) Construction of transgenic mice with tissue-specific acceleration of mitochondrial DNA mutagenesis. Genomics 69: 151-161
-
(2000)
Genomics
, vol.69
, pp. 151-161
-
-
Zhang, D.1
Mott, J.L.2
Chang, S.W.3
Denniger, G.4
Feng, Z.5
Zassenhaus, H.P.6
-
70
-
-
48049104077
-
Progressive loss of mitochondrial DNA in thymidine kinase 2 deficient mice
-
Zhou X, Solaroli N, Bjerke M, Stewart JB, Rozell B, Johansson M, Karlsson A (2008) Progressive loss of mitochondrial DNA in thymidine kinase 2 deficient mice. Hum Mol Genet 17: 2329-2335
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2329-2335
-
-
Zhou, X.1
Solaroli, N.2
Bjerke, M.3
Stewart, J.B.4
Rozell, B.5
Johansson, M.6
Karlsson, A.7
|