-
1
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BGet al. Sequence and organization of the human mitochondrial genome. Nature. 290:1981;457-465.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
-
2
-
-
0027282274
-
Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA
-
Bindoff LA, Howell N, Poulton Jet al. Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. J Biol Chem. 268:1993;19,559-19,564.
-
(1993)
J Biol Chem
, vol.268
, pp. 19
-
-
Bindoff, L.A.1
Howell, N.2
Poulton, J.3
-
3
-
-
0026840463
-
New morphological approaches to the study of mitochondrial encephalomyopathies
-
Bonilla E, Sciacco M, Tanji K, Sparaco M, Petruzzella V, Moraes CT New morphological approaches to the study of mitochondrial encephalomyopathies. Brain Pathol. 2:1992;113-119.
-
(1992)
Brain Pathol
, vol.2
, pp. 113-119
-
-
Bonilla, E.1
Sciacco, M.2
Tanji, K.3
Sparaco, M.4
Petruzzella, V.5
Moraes, C.T.6
-
4
-
-
0026621445
-
Lys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)
-
Lys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet. 51:1992;1187-1200.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1187-1200
-
-
Boulet, L.1
Karpati, G.2
Shoubridge, E.A.3
-
5
-
-
0029159804
-
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
-
Bourgeron T, Rustin P, Chretien Det al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet. 11:1995;144-149.
-
(1995)
Nat Genet
, vol.11
, pp. 144-149
-
-
Bourgeron, T.1
Rustin, P.2
Chretien, D.3
-
6
-
-
0023163377
-
Mitochondrial DNA and human evolution
-
Cann RL, Stoneking M, Wilson AC Mitochondrial DNA and human evolution. Nature. 325:1987;31-36.
-
(1987)
Nature
, vol.325
, pp. 31-36
-
-
Cann, R.L.1
Stoneking, M.2
Wilson, A.C.3
-
7
-
-
0029116474
-
A novel mtDNA point mutation in maternally inherited cardiomyopathy
-
Casali C, Santorelli FM, D'Amatti G, Bernuci P, DeBiase L, DiMauro S A novel mtDNA point mutation in maternally inherited cardiomyopathy. Biochem Biophys Res Commun. 213:1995;588-593.
-
(1995)
Biochem Biophys Res Commun
, vol.213
, pp. 588-593
-
-
Casali, C.1
Santorelli, F.M.2
D'Amatti, G.3
Bernuci, P.4
Debiase, L.5
Dimauro, S.6
-
8
-
-
0025968499
-
In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria
-
Chomyn A, Meola G, Bresolin N, Lai ST, Scarlato G, Attardi G In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. Mol Cell Biol. 11:1991;2236-2244.
-
(1991)
Mol Cell Biol
, vol.11
, pp. 2236-2244
-
-
Chomyn, A.1
Meola, G.2
Bresolin, N.3
Lai, S.T.4
Scarlato, G.5
Attardi, G.6
-
9
-
-
0026608057
-
MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no changes in levels of upstream and downstream mature transcripts
-
Chomyn A, Martinuzzi A, Yoneda Met al. MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no changes in levels of upstream and downstream mature transcripts. Proc Natl Acad Sci USA. 89:1992;4221-4225.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 4221-4225
-
-
Chomyn, A.1
Martinuzzi, A.2
Yoneda, M.3
-
10
-
-
0026074885
-
Hypoxemia is associated with mitochondrial DNA damage and gene induction
-
Corral-Debrinski M, Stepien G, Shoffner JM, Lott MT, Kanter K, Wallace DC Hypoxemia is associated with mitochondrial DNA damage and gene induction. JAMA. 266:1991;1812-1816.
-
(1991)
JAMA
, vol.266
, pp. 1812-1816
-
-
Corral-Debrinski, M.1
Stepien, G.2
Shoffner, J.M.3
Lott, M.T.4
Kanter, K.5
Wallace, D.C.6
-
12
-
-
0025666322
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 348:1990;651-653.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto Y-I1
Nonaka, I.2
Horai, S.3
-
13
-
-
0026004614
-
A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
-
Goto Y-i, Nonaka I, Horai S A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim Biophys Acta. 1097:1991;238-240.
-
(1991)
Biochim Biophys Acta
, vol.1097
, pp. 238-240
-
-
Goto Y-I1
Nonaka, I.2
Horai, S.3
-
14
-
-
0025825012
-
Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
-
Hasegawa H, Matsuoka T, Goto Y-i, Nonaka I Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. Ann Neurol. 29:1991;610-615.
-
(1991)
Ann Neurol
, vol.29
, pp. 610-615
-
-
Hasegawa, H.1
Matsuoka, T.2
Goto Y-I3
Nonaka, I.4
-
15
-
-
0025836655
-
Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction
-
Hayashi J-I, Ohta S, Kikuchi A, Takemitsu M, Goto Y-i, Nonaka I Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci USA. 88:1991;10,614-10,618.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 10
-
-
Hayashi J-I1
Ohta, S.2
Kikuchi, A.3
Takemitsu, M.4
Goto Y-I5
Nonaka, I.6
-
16
-
-
0028365120
-
Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes
-
Hayashi J-I, Ohta S, Kagawa Yet al. Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes. J Biol Chem. 269:1994;19,060-19,066.
-
(1994)
J Biol Chem
, vol.269
, pp. 19
-
-
Hayashi J-I1
Ohta, S.2
Kagawa, Y.3
-
17
-
-
0025845270
-
Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Hess JF, Parisi MA, Bennett JL, Clayton DA Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 351:1991;236-239.
-
(1991)
Nature
, vol.351
, pp. 236-239
-
-
Hess, J.F.1
Parisi, M.A.2
Bennett, J.L.3
Clayton, D.A.4
-
19
-
-
0029006067
-
Altered properties of mitochondrial ATP-synthase in patients with a T-arG mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA
-
Houstek J, Klement P, Hermanska Jet al. Altered properties of mitochondrial ATP-synthase in patients with a T-arG mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA. Biochim Biophys Acta. 1271:1995;349-357.
-
(1995)
Biochim Biophys Acta
, vol.1271
, pp. 349-357
-
-
Houstek, J.1
Klement, P.2
Hermanska, J.3
-
20
-
-
0025944560
-
Leber hereditary optic neuropathy: Identification of the same mitochondrial ND 1 mutation in six pedigrees
-
Howell N, Bindoff LA, McCullough DAet al. Leber hereditary optic neuropathy: identification of the same mitochondrial ND 1 mutation in six pedigrees. Am J Hum Genet. 49:1991;939-950.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 939-950
-
-
Howell, N.1
Bindoff, L.A.2
McCullough, D.A.3
-
21
-
-
0029014248
-
Ile 4269 mutation): Histochemical, immunohistochemical, and ultrastructural study
-
Ile 4269 mutation): histochemical, immunohistochemical, and ultrastructural study. J Neurol Sci. 131:1995;170-176.
-
(1995)
J Neurol Sci
, vol.131
, pp. 170-176
-
-
Kaido, M.1
Fujimura, H.2
Taniike, M.3
-
22
-
-
0029812866
-
Mitochondrial DNA and RNA Processing in MELAS
-
Kaufmann P, Koga Y, Shanske Set al. Mitochondrial DNA and RNA Processing in MELAS. Ann Neurol. 40:1996;172-180.
-
(1996)
Ann Neurol
, vol.40
, pp. 172-180
-
-
Kaufmann, P.1
Koga, Y.2
Shanske, S.3
-
23
-
-
0030003760
-
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria
-
Keightly JA, Hoffbuhr KC, Burton MDet al. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nat Genet. 12:1996;410-415.
-
(1996)
Nat Genet
, vol.12
, pp. 410-415
-
-
Keightly, J.A.1
Hoffbuhr, K.C.2
Burton, M.D.3
-
24
-
-
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. 246:1989;500-503.
-
(1989)
Science
, vol.246
, pp. 500-503
-
-
King, M.P.1
Attardi, G.2
-
25
-
-
0026573082
-
Leu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes
-
Leu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol Cell Biol. 12:1992;480-490.
-
(1992)
Mol Cell Biol
, vol.12
, pp. 480-490
-
-
King, M.P.1
Koga, Y.2
Davidson, M.3
Schon, E.A.4
-
26
-
-
0027286167
-
Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS
-
Koga Y, Davidson M, Schon EA, King MP Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS. Nucleic Acids Res. 21:1993;657-662.
-
(1993)
Nucleic Acids Res
, vol.21
, pp. 657-662
-
-
Koga, Y.1
Davidson, M.2
Schon, E.A.3
King, M.P.4
-
28
-
-
0025936841
-
Leber's hereditary optic neuropathy and complex I deficiency in muscle
-
Larsson N-G, Andersen O, Holme E, Oldfors A, Wahlstrom J Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol. 30:1991;701-708.
-
(1991)
Ann Neurol
, vol.30
, pp. 701-708
-
-
Larsson N-G1
Andersen, O.2
Holme, E.3
Oldfors, A.4
Wahlstrom, J.5
-
29
-
-
0025995774
-
Electron transfer properties of NADH: Ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)
-
Majander A, Huoponen K, Savontaus M-L, Nikoskelainen E, Wikstrom M Electron transfer properties of NADH: ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON). FEBS Lett. 292:1991;289-292.
-
(1991)
FEBS Lett
, vol.292
, pp. 289-292
-
-
Majander, A.1
Huoponen, K.2
Savontaus M-L3
Nikoskelainen, E.4
Wikstrom, M.5
-
33
-
-
0026718556
-
Leu(UUR) mutation in MELAS: Genetic, biochemical, and morphological correlations in skeletal muscle
-
Leu(UUR) mutation in MELAS: genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet. 50:1992;934-949.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 934-949
-
-
Moraes, C.T.1
Ricci, E.2
Bonilla, E.3
Dimauro, S.4
Schon, E.A.5
-
34
-
-
0027161003
-
A mitochondrial tRNA anticodon swap associated with a muscle disease
-
Moraes CT, Ciacci F, Bonilla E, Ionasescu V, Schon EA, DiMauro S A mitochondrial tRNA anticodon swap associated with a muscle disease. Nat Genet. 4:1993;284-288.
-
(1993)
Nat Genet
, vol.4
, pp. 284-288
-
-
Moraes, C.T.1
Ciacci, F.2
Bonilla, E.3
Ionasescu, V.4
Schon, E.A.5
Dimauro, S.6
-
35
-
-
0003093471
-
Mitochondrial diseases
-
In Engel AG, Franzini-Armstrong C, eds. New York, McGraw Hill
-
Morgan-Hughes JA: 1994. Mitochondrial diseases. In Engel AG, Franzini-Armstrong C, eds. Myology 2nd ed. New York, McGraw Hill, pp 1610-1660.
-
(1994)
Myology 2nd Ed.
, pp. 1610-1660
-
-
Morgan-Hughes, J.A.1
-
36
-
-
0027180961
-
Leber's hereditary optic neuropathy: New genetic considerations
-
Newman NJ Leber's hereditary optic neuropathy: new genetic considerations. Arch Neurol. 50:1993;540-548.
-
(1993)
Arch Neurol
, vol.50
, pp. 540-548
-
-
Newman, N.J.1
-
37
-
-
0027087413
-
Structural and functional mitochondrial abnormalities associated with high levels of partially deleted mitochondrial DNAs in somatic cell hybrids
-
Sancho S, Moraes CT, Tanji K, Miranda AF Structural and functional mitochondrial abnormalities associated with high levels of partially deleted mitochondrial DNAs in somatic cell hybrids. Somat Cell Mol Genet. 18:1992;431-442.
-
(1992)
Somat Cell Mol Genet
, vol.18
, pp. 431-442
-
-
Sancho, S.1
Moraes, C.T.2
Tanji, K.3
Miranda, A.F.4
-
38
-
-
0028182912
-
A T→C mutation at nt8993 of mitochondrial DNA in a child with Leigh syndrome
-
Santorelli FM, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S A T→C mutation at nt8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology. 44:1994;972-974.
-
(1994)
Neurology
, vol.44
, pp. 972-974
-
-
Santorelli, F.M.1
Shanske, S.2
Jain, K.D.3
Tick, D.4
Schon, E.A.5
Dimauro, S.6
-
39
-
-
0003054810
-
Mitochondrial DNA mutations and aging
-
In Holbrook NI, Martin GR, Lockshin RA, eds. New York, Wiley-Liss
-
Schon EA, Sciacco M, Pallotti F, Chen X, Bonilla E: . Mitochondrial DNA mutations and aging. In Holbrook NI, Martin GR, Lockshin RA, eds. Cellular Aging and Cell Death. New York, Wiley-Liss, pp 19-34.
-
Cellular Aging and Cell Death
, pp. 19-34
-
-
Schon, E.A.1
Sciacco, M.2
Pallotti, F.3
Chen, X.4
Bonilla, E.5
-
40
-
-
0028140454
-
Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy
-
Sciacco M, Bonilla E, Schon EA, DiMauro S, Moraes CT Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy. Hum Mol Genet. 3:1994;13-19.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 13-19
-
-
Sciacco, M.1
Bonilla, E.2
Schon, E.A.3
Dimauro, S.4
Moraes, C.T.5
-
41
-
-
0028037791
-
Oxidative phosphorylation diseases and mitochondrial DNA mutations: Diagnosis and treatment
-
Shoffner JM, Wallace DC Oxidative phosphorylation diseases and mitochondrial DNA mutations: diagnosis and treatment. Annu Rev Nutr. 14:1994;535-568.
-
(1994)
Annu Rev Nutr
, vol.14
, pp. 535-568
-
-
Shoffner, J.M.1
Wallace, D.C.2
-
45
-
-
0028349620
-
Platelet mitochondrial function in Leber's hereditary optic neuropathy
-
Smith PR, Cooper JM, Govan GG, Harding AE, Schapira AHV Platelet mitochondrial function in Leber's hereditary optic neuropathy. J Neurol Sci. 122:1994;80-83.
-
(1994)
J Neurol Sci
, vol.122
, pp. 80-83
-
-
Smith, P.R.1
Cooper, J.M.2
Govan, G.G.3
Harding, A.E.4
Schapira, A.H.V.5
-
46
-
-
0029063911
-
Myoclonus epilepsy with ragged-red fibers (MERRF): An immunohistochemical study of the brain
-
Sparaco M, Schon EA, DiMauro S, Bonilla E Myoclonus epilepsy with ragged-red fibers (MERRF): an immunohistochemical study of the brain. Brain Pathol. 5:1995;125-133.
-
(1995)
Brain Pathol
, vol.5
, pp. 125-133
-
-
Sparaco, M.1
Schon, E.A.2
Dimauro, S.3
Bonilla, E.4
-
47
-
-
0024554286
-
Compilation of tRNA sequences and sequences of tRNA genes
-
Sprinzl M, Hartmann T, Weber J, Blank J, Zeidler R Compilation of tRNA sequences and sequences of tRNA genes. Nucleic Acids Res. 17((Suppl)):1989;r1-r172.
-
(1989)
Nucleic Acids Res
, vol.17
, Issue.SUPPL
, pp. 1-r172
-
-
Sprinzl, M.1
Hartmann, T.2
Weber, J.3
Blank, J.4
Zeidler, R.5
-
49
-
-
0027244336
-
The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria
-
Tatuch Y, Robinson BH The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria. Biochem Biophys Res Commun. 192:1993;124-128.
-
(1993)
Biochem Biophys Res Commun
, vol.192
, pp. 124-128
-
-
Tatuch, Y.1
Robinson, B.H.2
-
50
-
-
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 Aet al. Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet. 50:1992;852-858.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 852-858
-
-
Tatuch, Y.1
Christodoulou, J.2
Feigenbaum, A.3
-
51
-
-
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. 91:1994;8334-8338.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 8334-8338
-
-
Trounce, I.1
Neill, S.2
Wallace, D.C.3
-
52
-
-
0028348251
-
Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell with distinct organelles
-
Yoneda M, Tadashi M, Attardi G Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell with distinct organelles. Mol Cell Biol. 14:1994;2699-2712.
-
(1994)
Mol Cell Biol
, vol.14
, pp. 2699-2712
-
-
Yoneda, M.1
Tadashi, M.2
Attardi, G.3
|