-
1
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
S. Anderson, A.T. Bankier, B.G. Barrell, M.H. de Bruijn, A.R. Coulson, and J. Drouin 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
De Bruijn, M.H.4
Coulson, A.R.5
Drouin, J.6
-
2
-
-
84858985882
-
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans
-
V. Bayat, I. Thiffault, M. Jaiswal, M. Tetreault, T. Donti, and F. Sasarman Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans PLoS Biology 10 2012 e1001288
-
(2012)
PLoS Biology
, vol.10
, pp. 1001288
-
-
Bayat, V.1
Thiffault, I.2
Jaiswal, M.3
Tetreault, M.4
Donti, T.5
Sasarman, F.6
-
3
-
-
79851508857
-
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome
-
R. Belostotsky, E. Ben-Shalom, C. Rinat, R. Becker-Cohen, S. Feinstein, and S. Zeligson Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome The American Journal of Human Genetics 88 2011 193 200
-
(2011)
The American Journal of Human Genetics
, vol.88
, pp. 193-200
-
-
Belostotsky, R.1
Ben-Shalom, E.2
Rinat, C.3
Becker-Cohen, R.4
Feinstein, S.5
Zeligson, S.6
-
4
-
-
85046980054
-
Involvement of human ELAC2 gene product in 3′end processing of mitochondrial tRNAs
-
L.K. Brzezniak, M. Bijata, R.J. Szczesny, and P.P. Stepien Involvement of human ELAC2 gene product in 3′end processing of mitochondrial tRNAs RNA Biology 8 2011 616 626
-
(2011)
RNA Biology
, vol.8
, pp. 616-626
-
-
Brzezniak, L.K.1
Bijata, M.2
Szczesny, R.J.3
Stepien, P.P.4
-
5
-
-
2442691791
-
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)
-
Y. Bykhovskaya, K. Casas, E. Mengesha, A. Inbal, and N. Fischel-Ghodsian Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA) The American Journal of Human Genetics 74 2004 1303 1308
-
(2004)
The American Journal of Human Genetics
, vol.74
, pp. 1303-1308
-
-
Bykhovskaya, Y.1
Casas, K.2
Mengesha, E.3
Inbal, A.4
Fischel-Ghodsian, N.5
-
6
-
-
78249252356
-
Defective mitochondrial mRNA maturation is associated with spastic ataxia
-
A.H. Crosby, H. Patel, B.A. Chioza, C. Proukakis, K. Gurtz, and M.A. Patton Defective mitochondrial mRNA maturation is associated with spastic ataxia The American Journal of Human Genetics 87 2010 655 660
-
(2010)
The American Journal of Human Genetics
, vol.87
, pp. 655-660
-
-
Crosby, A.H.1
Patel, H.2
Chioza, B.A.3
Proukakis, C.4
Gurtz, K.5
Patton, M.A.6
-
7
-
-
35348983348
-
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia
-
S. Edvardson, A. Shaag, O. Kolesnikova, J.M. Gomori, I. Tarassov, and T. Einbinder Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia The American Journal of Human Genetics 81 2007 857 862
-
(2007)
The American Journal of Human Genetics
, vol.81
, pp. 857-862
-
-
Edvardson, S.1
Shaag, A.2
Kolesnikova, O.3
Gomori, J.M.4
Tarassov, I.5
Einbinder, T.6
-
8
-
-
84867131148
-
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy
-
J.M. Elo, S.S. Yadavalli, L. Euro, P. Isohanni, A. Gotz, and C.J. Carroll Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy Human Molecular Genetics 21 2012 4521 4529
-
(2012)
Human Molecular Genetics
, vol.21
, pp. 4521-4529
-
-
Elo, J.M.1
Yadavalli, S.S.2
Euro, L.3
Isohanni, P.4
Gotz, A.5
Carroll, C.J.6
-
9
-
-
84862129211
-
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis
-
D. Ghezzi, E. Baruffini, T.B. Haack, F. Invernizzi, L. Melchionda, and C. Dallabona Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis The American Journal of Human Genetics 90 2012 1079 1087
-
(2012)
The American Journal of Human Genetics
, vol.90
, pp. 1079-1087
-
-
Ghezzi, D.1
Baruffini, E.2
Haack, T.B.3
Invernizzi, F.4
Melchionda, L.5
Dallabona, C.6
-
10
-
-
79955797332
-
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy
-
A. Gotz, H. Tyynismaa, L. Euro, P. Ellonen, T. Hyotylainen, and T. Ojala Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy The American Journal of Human Genetics 88 2011 635 642
-
(2011)
The American Journal of Human Genetics
, vol.88
, pp. 635-642
-
-
Gotz, A.1
Tyynismaa, H.2
Euro, L.3
Ellonen, P.4
Hyotylainen, T.5
Ojala, T.6
-
11
-
-
54549088876
-
RNase P without RNA: Identification and functional reconstitution of the human mitochondrial tRNA processing enzyme
-
J. Holzmann, P. Frank, E. Loffler, K.L. Bennett, C. Gerner, and W. Rossmanith RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme Cell 135 2008 462 474
-
(2008)
Cell
, vol.135
, pp. 462-474
-
-
Holzmann, J.1
Frank, P.2
Loffler, E.3
Bennett, K.L.4
Gerner, C.5
Rossmanith, W.6
-
12
-
-
18844430007
-
Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease
-
Y. Kirino, Y. Goto, Y. Campos, J. Arenas, and T. Suzuki Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease Proceedings of the National Academy of Sciences of the United States of America 102 2005 7127 7132
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, pp. 7127-7132
-
-
Kirino, Y.1
Goto, Y.2
Campos, Y.3
Arenas, J.4
Suzuki, T.5
-
13
-
-
0037458031
-
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
-
V.K. Mootha, P. Lepage, K. Miller, J. Bunkenborg, M. Reich, and M. Hjerrild Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics Proceedings of the National Academy of Sciences of the United States of America 100 2003 605 610
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, pp. 605-610
-
-
Mootha, V.K.1
Lepage, P.2
Miller, K.3
Bunkenborg, J.4
Reich, M.5
Hjerrild, M.6
-
14
-
-
73649122039
-
Evolutionarily conserved proteins MnmE and GidA catalyze the formation of two methyluridine derivatives at tRNA wobble positions
-
I. Moukadiri, S. Prado, J. Piera, A. Velazquez-Campoy, G.R. Bjork, and M.E. Armengod Evolutionarily conserved proteins MnmE and GidA catalyze the formation of two methyluridine derivatives at tRNA wobble positions Nucleic Acids Research 37 2009 7177 7193
-
(2009)
Nucleic Acids Research
, vol.37
, pp. 7177-7193
-
-
Moukadiri, I.1
Prado, S.2
Piera, J.3
Velazquez-Campoy, A.4
Bjork, G.R.5
Armengod, M.E.6
-
15
-
-
0035955658
-
Identification and characterization of mammalian mitochondrial tRNA nucleotidyltransferases
-
T. Nagaike, T. Suzuki, Y. Tomari, C. Takemoto-Hori, F. Negayama, and K. Watanabe Identification and characterization of mammalian mitochondrial tRNA nucleotidyltransferases Journal of Biological Chemistry 276 2001 40041 40049
-
(2001)
Journal of Biological Chemistry
, vol.276
, pp. 40041-40049
-
-
Nagaike, T.1
Suzuki, T.2
Tomari, Y.3
Takemoto-Hori, C.4
Negayama, F.5
Watanabe, K.6
-
17
-
-
21244449941
-
Mitochondrial myopathy and sideroblastic anemia (MLASA): Missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation
-
J.R. Patton, Y. Bykhovskaya, E. Mengesha, C. Bertolotto, and N. Fischel-Ghodsian Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation Journal of Biological Chemistry 280 2005 19823 19828
-
(2005)
Journal of Biological Chemistry
, vol.280
, pp. 19823-19828
-
-
Patton, J.R.1
Bykhovskaya, Y.2
Mengesha, E.3
Bertolotto, C.4
Fischel-Ghodsian, N.5
-
18
-
-
79955634426
-
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
-
S.B. Pierce, K.M. Chisholm, E.D. Lynch, M.K. Lee, T. Walsh, and J.M. Opitz Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome Proceedings of the National Academy of Sciences of the United States of America 108 2011 6543 6548
-
(2011)
Proceedings of the National Academy of Sciences of the United States of America
, vol.108
, pp. 6543-6548
-
-
Pierce, S.B.1
Chisholm, K.M.2
Lynch, E.D.3
Lee, M.K.4
Walsh, T.5
Opitz, J.M.6
-
19
-
-
0037869109
-
Human polynucleotide phosphorylase, hPNPase, is localized in mitochondria
-
J. Piwowarski, P. Grzechnik, A. Dziembowski, A. Dmochowska, M. Minczuk, and P.P. Stepien Human polynucleotide phosphorylase, hPNPase, is localized in mitochondria The Journal of Molecular Biology 329 2003 853 857
-
(2003)
The Journal of Molecular Biology
, vol.329
, pp. 853-857
-
-
Piwowarski, J.1
Grzechnik, P.2
Dziembowski, A.3
Dmochowska, A.4
Minczuk, M.5
Stepien, P.P.6
-
20
-
-
77955061839
-
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia-MLASA syndrome
-
L.G. Riley, S. Cooper, P. Hickey, J. Rudinger-Thirion, M. McKenzie, and A. Compton Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia-MLASA syndrome The American Journal of Human Genetics 87 2010 52 59
-
(2010)
The American Journal of Human Genetics
, vol.87
, pp. 52-59
-
-
Riley, L.G.1
Cooper, S.2
Hickey, P.3
Rudinger-Thirion, J.4
McKenzie, M.5
Compton, A.6
-
21
-
-
84862227617
-
The post-transcriptional life of mammalian mitochondrial RNA
-
J. Rorbach, and M. Minczuk The post-transcriptional life of mammalian mitochondrial RNA Biochemical Journal 444 2012 357 373
-
(2012)
Biochemical Journal
, vol.444
, pp. 357-373
-
-
Rorbach, J.1
Minczuk, M.2
-
22
-
-
80053219536
-
PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria
-
J. Rorbach, T.J. Nicholls, and M. Minczuk PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria Nucleic Acids Research 39 2011 7750 7763
-
(2011)
Nucleic Acids Research
, vol.39
, pp. 7750-7763
-
-
Rorbach, J.1
Nicholls, T.J.2
Minczuk, M.3
-
23
-
-
0032555354
-
Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu)(UUR) associated with mitochondrial diseases
-
W. Rossmanith, and R.M. Karwan Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu)(UUR) associated with mitochondrial diseases FEBS Letters 433 1998 269 274
-
(1998)
FEBS Letters
, vol.433
, pp. 269-274
-
-
Rossmanith, W.1
Karwan, R.M.2
-
24
-
-
84857192195
-
LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs
-
B. Ruzzenente, M.D. Metodiev, A. Wredenberg, A. Bratic, C.B. Park, and Y. Camara LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs EMBO Journal 31 2011 443 456
-
(2011)
EMBO Journal
, vol.31
, pp. 443-456
-
-
Ruzzenente, B.1
Metodiev, M.D.2
Wredenberg, A.3
Bratic, A.4
Park, C.B.5
Camara, Y.6
-
25
-
-
34047109743
-
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
-
G.C. Scheper, T. van der Klok, R.J. van Andel, C.G. van Berkel, M. Sissler, and J. Smet Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Nature Genetics 39 2007 534 539
-
(2007)
Nature Genetics
, vol.39
, pp. 534-539
-
-
Scheper, G.C.1
Van Der Klok, T.2
Van Andel, R.J.3
Van Berkel, C.G.4
Sissler, M.5
Smet, J.6
-
26
-
-
33645052713
-
Mitochondrial medicine: A metabolic perspective on the pathology of oxidative phosphorylation disorders
-
J.A. Smeitink, M. Zeviani, D.M. Turnbull, and H.T. Jacobs Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders Cell Metabolism 3 2006 9 13
-
(2006)
Cell Metabolism
, vol.3
, pp. 9-13
-
-
Smeitink, J.A.1
Zeviani, M.2
Turnbull, D.M.3
Jacobs, H.T.4
-
27
-
-
84860615998
-
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
-
M.E. Steenweg, D. Ghezzi, T. Haack, T.E. Abbink, D. Martinelli, and C.G. van Berkel Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations Brain 135 2012 1387 1394
-
(2012)
Brain
, vol.135
, pp. 1387-1394
-
-
Steenweg, M.E.1
Ghezzi, D.2
Haack, T.3
Abbink, T.E.4
Martinelli, D.5
Van Berkel, C.G.6
-
28
-
-
80755169463
-
Human mitochondrial tRNAs: Biogenesis, function, structural aspects, and diseases
-
T. Suzuki, A. Nagao, and T. Suzuki Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases Annual Review of Genetics 45 2011 299 329
-
(2011)
Annual Review of Genetics
, vol.45
, pp. 299-329
-
-
Suzuki, T.1
Nagao, A.2
Suzuki, T.3
-
29
-
-
0037011177
-
Taurine as a constituent of mitochondrial tRNAs: New insights into the functions of taurine and human mitochondrial diseases
-
T. Suzuki, T. Wada, K. Saigo, and K. Watanabe Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases The EMBO Journal 21 2002 6581 6589
-
(2002)
The EMBO Journal
, vol.21
, pp. 6581-6589
-
-
Suzuki, T.1
Wada, T.2
Saigo, K.3
Watanabe, K.4
-
30
-
-
75649152422
-
Human mitochondrial RNA turnover caught in flagranti: Involvement of hSuv3p helicase in RNA surveillance
-
R.J. Szczesny, L.S. Borowski, L.K. Brzezniak, A. Dmochowska, K. Gewartowski, and E. Bartnik Human mitochondrial RNA turnover caught in flagranti: involvement of hSuv3p helicase in RNA surveillance Nucleic Acids Research 38 2010 279 298
-
(2010)
Nucleic Acids Research
, vol.38
, pp. 279-298
-
-
Szczesny, R.J.1
Borowski, L.S.2
Brzezniak, L.K.3
Dmochowska, A.4
Gewartowski, K.5
Bartnik, E.6
-
31
-
-
0038607102
-
Decreased CCA-addition in human mitochondrial tRNAs bearing a pathogenic A4317G or A10044G mutation
-
Y. Tomari, N. Hino, T. Nagaike, T. Suzuki, and T. Ueda Decreased CCA-addition in human mitochondrial tRNAs bearing a pathogenic A4317G or A10044G mutation Journal of Biological Chemistry 278 2003 16828 16833
-
(2003)
Journal of Biological Chemistry
, vol.278
, pp. 16828-16833
-
-
Tomari, Y.1
Hino, N.2
Nagaike, T.3
Suzuki, T.4
Ueda, T.5
-
32
-
-
11344287222
-
Identification of a novel human nuclear-encoded mitochondrial poly(A) polymerase
-
R. Tomecki, A. Dmochowska, K. Gewartowski, A. Dziembowski, and P.P. Stepien Identification of a novel human nuclear-encoded mitochondrial poly(A) polymerase Nucleic Acids Research 32 2004 6001 6014
-
(2004)
Nucleic Acids Research
, vol.32
, pp. 6001-6014
-
-
Tomecki, R.1
Dmochowska, A.2
Gewartowski, K.3
Dziembowski, A.4
Stepien, P.P.5
-
33
-
-
80052780458
-
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation
-
E.J. Tucker, S.G. Hershman, C. Kohrer, C.A. Belcher-Timme, J. Patel, and O.A. Goldberger Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation Cell Metabolism 14 2011 428 434
-
(2011)
Cell Metabolism
, vol.14
, pp. 428-434
-
-
Tucker, E.J.1
Hershman, S.G.2
Kohrer, C.3
Belcher-Timme, C.A.4
Patel, J.5
Goldberger, O.A.6
-
34
-
-
12544259245
-
Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases
-
N. Umeda, T. Suzuki, M. Yukawa, Y. Ohya, H. Shindo, and K. Watanabe Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases Journal of Biological Chemistry 280 2005 1613 1624
-
(2005)
Journal of Biological Chemistry
, vol.280
, pp. 1613-1624
-
-
Umeda, N.1
Suzuki, T.2
Yukawa, M.3
Ohya, Y.4
Shindo, H.5
Watanabe, K.6
-
35
-
-
84868456264
-
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency
-
V. Vedrenne, A. Gowher, P. De Lonlay, P. Nitschke, V. Serre, and N. Boddaert Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency The American Journal of Human Genetics 91 2012 912 918
-
(2012)
The American Journal of Human Genetics
, vol.91
, pp. 912-918
-
-
Vedrenne, V.1
Gowher, A.2
De Lonlay, P.3
Nitschke, P.4
Serre, V.5
Boddaert, N.6
-
36
-
-
84868504132
-
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss
-
S. von Ameln, G. Wang, R. Boulouiz, M.A. Rutherford, G.M. Smith, and Y. Li A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss The American Journal of Human Genetics 91 2012 919 927
-
(2012)
The American Journal of Human Genetics
, vol.91
, pp. 919-927
-
-
Von Ameln, S.1
Wang, G.2
Boulouiz, R.3
Rutherford, M.A.4
Smith, G.M.5
Li, Y.6
-
37
-
-
77955320529
-
PNPASE regulates RNA import into mitochondria
-
G. Wang, H.W. Chen, Y. Oktay, J. Zhang, E.L. Allen, and G.M. Smith PNPASE regulates RNA import into mitochondria Cell 142 2010 456 467
-
(2010)
Cell
, vol.142
, pp. 456-467
-
-
Wang, G.1
Chen, H.W.2
Oktay, Y.3
Zhang, J.4
Allen, E.L.5
Smith, G.M.6
-
38
-
-
0034307731
-
A pathogenic point mutation reduces stability of mitochondrial mutant tRNA(Ile)
-
T. Yasukawa, N. Hino, T. Suzuki, K. Watanabe, T. Ueda, and S. Ohta A pathogenic point mutation reduces stability of mitochondrial mutant tRNA(Ile) Nucleic Acids Research 28 2000 3779 3784
-
(2000)
Nucleic Acids Research
, vol.28
, pp. 3779-3784
-
-
Yasukawa, T.1
Hino, N.2
Suzuki, T.3
Watanabe, K.4
Ueda, T.5
Ohta, S.6
-
39
-
-
69649100936
-
Acute infantile liver failure due to mutations in the TRMU gene
-
A. Zeharia, A. Shaag, O. Pappo, A.M. Mager-Heckel, A. Saada, and M. Beinat Acute infantile liver failure due to mutations in the TRMU gene The American Journal of Human Genetics 85 2009 401 407
-
(2009)
The American Journal of Human Genetics
, vol.85
, pp. 401-407
-
-
Zeharia, A.1
Shaag, A.2
Pappo, O.3
Mager-Heckel, A.M.4
Saada, A.5
Beinat, M.6
|