-
1
-
-
0034951327
-
Mitochondrial DNA mutations in human disease
-
DiMauro S, Schon EA. Mitochondrial DNA mutations in human disease. Am J Med Genet 2001;106:18-26.
-
(2001)
Am J Med Genet
, vol.106
, pp. 18-26
-
-
DiMauro, S.1
Schon, E.A.2
-
2
-
-
0030910828
-
Skewed segregation of the mtDNA nt 8993 (T?G) mutation in human oocytes
-
Blok RB, Gook DA, Thorburn DR, et al. Skewed segregation of the mtDNA nt 8993 (T?G) mutation in human oocytes. Am J Hum Genet 1997;60:1495-1501.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1495-1501
-
-
Blok, R.B.1
Gook, D.A.2
Thorburn, D.R.3
-
3
-
-
0029079541
-
Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes
-
Dunbar DR, Moonie PA, Jacobs HT, et al. Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes. Proc Natl Acad Sci USA 1995;92:6562-6566.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 6562-6566
-
-
Dunbar, D.R.1
Moonie, P.A.2
Jacobs, H.T.3
-
4
-
-
25444509594
-
Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction
-
Hayashi J, Ohta S, Kikuchi A, et al, Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. J Inherit Metab Dis 1992;15:448-455.
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 448-455
-
-
Hayashi, J.1
Ohta, S.2
Kikuchi, A.3
-
5
-
-
0030951244
-
Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice
-
Jenuth JP, Peterson AC, Shoubridge EA. Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat Genet 1997;16:93-95.
-
(1997)
Nat Genet
, vol.16
, pp. 93-95
-
-
Jenuth, J.P.1
Peterson, A.C.2
Shoubridge, E.A.3
-
6
-
-
0032877636
-
Introduction of heteroplasmic mitochondrial DNA (mtDNA) from a patient with NARP into two human rho zero cell lines is associated either with selection and maintenance of NARP mutant mtDNA or failure to maintain mtDNA
-
Vergani L, Rossi R, Brierley CH, et al. Introduction of heteroplasmic mitochondrial DNA (mtDNA) from a patient with NARP into two human rho zero cell lines is associated either with selection and maintenance of NARP mutant mtDNA or failure to maintain mtDNA. Hum Mol Genet 1999;8:1751-1755.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1751-1755
-
-
Vergani, L.1
Rossi, R.2
Brierley, C.H.3
-
7
-
-
0026457825
-
Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy
-
Yoneda M, Chomyn A, Martinuzzi A, et al. Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. Proc Natl Acad Sci USA 1992;89:11164-11168.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 11164-11168
-
-
Yoneda, M.1
Chomyn, A.2
Martinuzzi, A.3
-
8
-
-
0024121557
-
Assembly of functional proton-translocating ATPase complex in yeast mitochondria with cytoplasmically synthesized subunit 8, a polypeptide normally encoded within the organelle
-
Nagley P, Farrell LB, Gearing DP, et al. Assembly of functional proton-translocating ATPase complex in yeast mitochondria with cytoplasmically synthesized subunit 8, a polypeptide normally encoded within the organelle. Proc Natl Acad Sci USA 1988;85:2091-2095.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 2091-2095
-
-
Nagley, P.1
Farrell, L.B.2
Gearing, D.P.3
-
9
-
-
0027308236
-
Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase
-
Dyer MR, Walker JE. Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase. Biochem J 1993;293:51-64.
-
(1993)
Biochem J
, vol.293
, pp. 51-64
-
-
Dyer, M.R.1
Walker, J.E.2
-
10
-
-
0037155141
-
The typically mitochondrial DNA-encoded ATP6 subunit of the F1F0-ATPase is encoded by a nuclear gene in Chlamydomonas reinhardtii
-
Funes S, Davidson E, Claros MG, et al. The typically mitochondrial DNA-encoded ATP6 subunit of the F1F0-ATPase is encoded by a nuclear gene in Chlamydomonas reinhardtii. J Biol Chem 2002;277:6051-6058.
-
(2002)
J Biol Chem
, vol.277
, pp. 6051-6058
-
-
Funes, S.1
Davidson, E.2
Claros, M.G.3
-
11
-
-
0025267548
-
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
-
Holt IJ, Harding AE, Petty RK, et al. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428-433.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 428-433
-
-
Holt, I.J.1
Harding, A.E.2
Petty, R.K.3
-
12
-
-
0026566850
-
Heteroplasmic mtDNA mutation (T?G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
-
Taruch 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;50:852-858.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 852-858
-
-
Taruch, Y.1
Christodoulou, J.2
Feigenbaum, A.3
-
13
-
-
0033362171
-
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993
-
White SL, Collins VR, Wolfe R, et al. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. Am J Hum Genet 1999;65:474-482.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 474-482
-
-
White, S.L.1
Collins, V.R.2
Wolfe, R.3
-
14
-
-
0027936218
-
Cytoplasmic transfer of the mtDNA nt 8993 T?G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio
-
Trounce I, Neill S, Wallace DC. Cytoplasmic transfer of the mtDNA nt 8993 T?G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio. Proc Natl Acad Sci USA 1994;91:8334-8338.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 8334-8338
-
-
Trounce, I.1
Neill, S.2
Wallace, D.C.3
-
15
-
-
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;274:9386-9391.
-
(1999)
J Biol Chem
, vol.274
, pp. 9386-9391
-
-
Manfredi, G.1
Gupta, N.2
Vazquez-Memije, M.E.3
-
16
-
-
0035794142
-
Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene
-
Nijtmans LG, Henderson NS, Attardi G, et al. Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene. J Biol Chem 2001;276:6755-6762.
-
(2001)
J Biol Chem
, vol.276
, pp. 6755-6762
-
-
Nijtmans, L.G.1
Henderson, N.S.2
Attardi, G.3
-
17
-
-
0024556150
-
Engineering hybrid genes without the use of restriction enzymes: Gene splicing by overlap extension
-
Horton RM, Hunt HD, Ho SN, et al. Engineering hybrid genes without the use of restriction enzymes: gene splicing by overlap extension. Gene 1989;77:61-68.
-
(1989)
Gene
, vol.77
, pp. 61-68
-
-
Horton, R.M.1
Hunt, H.D.2
Ho, S.N.3
-
18
-
-
0036024972
-
Protein import and processing reconstituted with isolated rat liver mitochondria and recombinant mitochondrial processing peptidase
-
Cavadini P, Gakh O, Isaya G. Protein import and processing reconstituted with isolated rat liver mitochondria and recombinant mitochondrial processing peptidase. Methods 2002;26:298-306.
-
(2002)
Methods
, vol.26
, pp. 298-306
-
-
Cavadini, P.1
Gakh, O.2
Isaya, G.3
-
19
-
-
0030475160
-
Cytosolic factors in mitochondrial protein import
-
Mihara K, Omura T. Cytosolic factors in mitochondrial protein import. Experientia 1996;52;1063-1068.
-
(1996)
Experientia
, vol.52
, pp. 1063-1068
-
-
Mihara, K.1
Omura, T.2
-
20
-
-
0033556240
-
Decreased ATP synthesis is phenotypically expressed during increased energy demand in fibroblasts containing mitochondrial tRNA mutations
-
James AM, Sheard PW, Wei YH, et al. Decreased ATP synthesis is phenotypically expressed during increased energy demand in fibroblasts containing mitochondrial tRNA mutations. Eur J Biochem 1999;259:462-469.
-
(1999)
Eur J Biochem
, vol.259
, pp. 462-469
-
-
James, A.M.1
Sheard, P.W.2
Wei, Y.H.3
-
21
-
-
0026409298
-
Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form
-
Schagger H, von Jagow G. Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form. Anal Biochem 1991;199:223-231.
-
(1991)
Anal Biochem
, vol.199
, pp. 223-231
-
-
Schagger, H.1
von Jagow, G.2
-
22
-
-
0027134830
-
An efficient expression vector for stable expression in human liver cells
-
Kim DW, Harada T, Saito I, et al. An efficient expression vector for stable expression in human liver cells. Gene 1993;134:307-308.
-
(1993)
Gene
, vol.134
, pp. 307-308
-
-
Kim, D.W.1
Harada, T.2
Saito, I.3
-
23
-
-
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, Sadlock JE, et al. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nat Genet 2002;30:394-399.
-
(2002)
Nat Genet
, vol.30
, pp. 394-399
-
-
Manfredi, G.1
Fu, J.2
Ojaimi, J.3
Sadlock, J.E.4
-
24
-
-
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, et al. An algal nucleus-encoded subunit of mitochondrial ATP synthase rescues a defect in the analogous human mitochondrial-encoded subunit. Mol Biol Cell 2002;13:3836-3844.
-
(2002)
Mol Biol Cell
, vol.13
, pp. 3836-3844
-
-
Ojaimi, J.1
Pan, J.2
Santra, S.3
-
25
-
-
0034635388
-
Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a
-
Baracca A, Barogi S, Carelli V, et al. Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a. J Biol Chem 2000;275:4177-4182.
-
(2000)
J Biol Chem
, vol.275
, pp. 4177-4182
-
-
Baracca, A.1
Barogi, S.2
Carelli, V.3
-
26
-
-
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;52:534-542.
-
(2002)
Ann Neurol
, vol.52
, pp. 534-542
-
-
Guy, J.1
Qi, X.2
Pallotti, F.3
-
27
-
-
0242349697
-
Limitations of allotopic expression of mitochondrial genes in mammalian cells
-
Oca-Cossio J, Kenyon L, Hao H, et al. Limitations of allotopic expression of mitochondrial genes in mammalian cells. Genetics 2003;165:707-720.
-
(2003)
Genetics
, vol.165
, pp. 707-720
-
-
Oca-Cossio, J.1
Kenyon, L.2
Hao, H.3
-
28
-
-
0036678103
-
Intracellular gene transfer: Reduced hydrophobicity facilitates gene transfer for subunit 2 of cytochrome c oxidase
-
Daley DO, Clifton R, Whelan J. Intracellular gene transfer: reduced hydrophobicity facilitates gene transfer for subunit 2 of cytochrome c oxidase. Proc Natl Acad Scii USA 2002;99:10510-10515.
-
(2002)
Proc Natl Acad Scii USA
, vol.99
, pp. 10510-10515
-
-
Daley, D.O.1
Clifton, R.2
Whelan, J.3
-
29
-
-
0025666322
-
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Goto Y, Nonaka I, Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651-653.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
30
-
-
0026573082
-
Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes
-
King MP, Koga Y, Davidson M, et al. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol Cell Biol 1992;12:480-490.
-
(1992)
Mol Cell Biol
, vol.12
, pp. 480-490
-
-
King, M.P.1
Koga, Y.2
Davidson, M.3
-
31
-
-
0030059913
-
Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids
-
Dunbar DR, Moonie PA, Zeviani M, et al. Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids. Hum Mol Genet 1996;5:123-129.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 123-129
-
-
Dunbar, D.R.1
Moonie, P.A.2
Zeviani, M.3
-
32
-
-
0034841446
-
Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene
-
Campos Y, Garcia-Redondo A, Fernandez-Moreno MA, et al. Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene. Ann Neurol 2001;50:409-13.
-
(2001)
Ann Neurol
, vol.50
, pp. 409-413
-
-
Campos, Y.1
Garcia-Redondo, A.2
Fernandez-Moreno, M.A.3
-
33
-
-
0035934008
-
Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II
-
Wong LJ, Dai P, Tan D, et al. Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II. Am J Med Genet 2001;102:95-99.
-
(2001)
Am J Med Genet
, vol.102
, pp. 95-99
-
-
Wong, L.J.1
Dai, P.2
Tan, D.3
-
34
-
-
16844381561
-
Stable transformation of CHO Cells and human NARP cybrids confers oligomycin resistance (oli(r)) following transfer of a mitochondrial DNA-encoded oli(r) ATPaseo gene to the nuclear genome: A model system for mtDNA gene therapy
-
Zullo SJ, Parks WT, Chloupkova M, et al. Stable transformation of CHO Cells and human NARP cybrids confers oligomycin resistance (oli(r)) following transfer of a mitochondrial DNA-encoded oli(r) ATPaseo gene to the nuclear genome: a model system for mtDNA gene therapy. Rejuvenation Res 2005;8:18-28.
-
(2005)
Rejuvenation Res
, vol.8
, pp. 18-28
-
-
Zullo, S.J.1
Parks, W.T.2
Chloupkova, M.3
-
35
-
-
0034675885
-
Characterization of the signal that directs Tom20 to the mitochondrial outer membrane
-
Kanaji S, Iwahashi J, Kida Y, et al. Characterization of the signal that directs Tom20 to the mitochondrial outer membrane. J Cell Biol 2000;151:277-288.
-
(2000)
J Cell Biol
, vol.151
, pp. 277-288
-
-
Kanaji, S.1
Iwahashi, J.2
Kida, Y.3
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