-
1
-
-
29544450711
-
Rapid tRNA decay can result from lack of nonessential modifications
-
Alexandrov, A., Chernyakov, I., Gu, W., Hiley, S.L., Hughes, T.R., Grayhack, E.J., and Phizicky, E.M. (2006). Rapid tRNA decay can result from lack of nonessential modifications. Mol Cell 21, 87-96.
-
(2006)
Mol Cell
, vol.21
, pp. 87-96
-
-
Alexandrov, A.1
Chernyakov, I.2
Gu, W.3
Hiley, S.L.4
Hughes, T.R.5
Grayhack, E.J.6
Phizicky, E.M.7
-
2
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson, S., Bankier, A.T., Barrell, B.G., de Bruijn, M.H., Coulson, A.R., Drouin, J., Eperon, I.C., Nierlich, D.P., Roe, B.A., Sanger, F., 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
Bankier, A.T.2
Barrell, B.G.3
de Bruijn, M.H.4
Coulson, A.R.5
Drouin, J.6
Eperon, I.C.7
Nierlich, D.P.8
Roe, B.A.9
Sanger, F.10
-
3
-
-
0035860809
-
Identification and characterization of the tRNA:Psi 31-synthase (Pus6p) of Saccharomyces cerevisiae
-
Ansmant, I., Motorin, Y., Massenet, S., Grosjean, H., and Branlant, C. (2001). Identification and characterization of the tRNA:Psi 31-synthase (Pus6p) of Saccharomyces cerevisiae. The Journal of biological chemistry 276, 34934-34940.
-
(2001)
The Journal of biological chemistry
, vol.276
, pp. 34934-34940
-
-
Ansmant, I.1
Motorin, Y.2
Massenet, S.3
Grosjean, H.4
Branlant, C.5
-
4
-
-
84885434357
-
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast
-
Baruffini, E., Dallabona, C., Invernizzi, F., Yarham, J.W., Melchionda, L., Blakely, E.L., Lamantea, E., Donnini, C., Santra, S., Vijayaraghavan, S., et al. (2013). MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Human mutation 34, 1501-1509.
-
(2013)
Human mutation
, vol.34
, pp. 1501-1509
-
-
Baruffini, E.1
Dallabona, C.2
Invernizzi, F.3
Yarham, J.W.4
Melchionda, L.5
Blakely, E.L.6
Lamantea, E.7
Donnini, C.8
Santra, S.9
Vijayaraghavan, S.10
-
5
-
-
0030772852
-
The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the formation of psi55 in both mitochondrial and cytoplasmic tRNAs
-
Becker, H.F., Motorin, Y., Planta, R.J., and Grosjean, H. (1997). The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the formation of psi55 in both mitochondrial and cytoplasmic tRNAs. Nucleic acids research 25, 93-4499.
-
(1997)
Nucleic acids research
, vol.25
, pp. 93-4499
-
-
Becker, H.F.1
Motorin, Y.2
Planta, R.J.3
Grosjean, H.4
-
6
-
-
11144245522
-
Pseudouridylation at position 32 of mitochondrial and cytoplasmic tRNAs requires two distinct enzymes in Saccharomyces cerevisiae
-
Behm-Ansmant, I., Grosjean, H., Massenet, S., Motorin, Y., and Branlant, C. (2004). Pseudouridylation at position 32 of mitochondrial and cytoplasmic tRNAs requires two distinct enzymes in Saccharomyces cerevisiae. The Journal of biological chemistry 279, 52998-53006.
-
(2004)
The Journal of biological chemistry
, vol.279
, pp. 52998-53006
-
-
Behm-Ansmant, I.1
Grosjean, H.2
Massenet, S.3
Motorin, Y.4
Branlant, C.5
-
7
-
-
79251593614
-
The human mitochondrial tRNAMet: structure/function relationship of a unique modification in the decoding of unconventional codons
-
Bilbille, Y., Gustilo, E.M., Harris, K.A., Jones, C.N., Lusic, H., Kaiser, R.J., Delaney, M.O., Spremulli, L.L., Deiters, A., and Agris, P.F. (2011). The human mitochondrial tRNAMet: structure/function relationship of a unique modification in the decoding of unconventional codons. Journal of molecular biology 406, 257-274.
-
(2011)
Journal of molecular biology
, vol.406
, pp. 257-274
-
-
Bilbille, Y.1
Gustilo, E.M.2
Harris, K.A.3
Jones, C.N.4
Lusic, H.5
Kaiser, R.J.6
Delaney, M.O.7
Spremulli, L.L.8
Deiters, A.9
Agris, P.F.10
-
8
-
-
0027282274
-
Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA A potential disease mechanism.
-
Bindoff, L.A., Howell, N., Poulton, J., McCullough, D.A., Morten, K.J., Lightowlers, R.N., Turnbull, D.M., and Weber, K. (1993). Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism. J Biol Chem 268, 19559-19564.
-
(1993)
J Biol Chem
, vol.268
, pp. 19559-19564
-
-
Bindoff, L.A.1
Howell, N.2
Poulton, J.3
McCullough, D.A.4
Morten, K.J.5
Lightowlers, R.N.6
Turnbull, D.M.7
Weber, K.8
-
10
-
-
84886997052
-
Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency
-
Boczonadi, V., Smith, P.M., Pyle, A., Gomez-Duran, A., Schara, U., Tulinius, M., Chinnery, P.F., and Horvath, R. (2013). Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency. Human molecular genetics 22, 4602-4615.
-
(2013)
Human molecular genetics
, vol.22
, pp. 4602-4615
-
-
Boczonadi, V.1
Smith, P.M.2
Pyle, A.3
Gomez-Duran, A.4
Schara, U.5
Tulinius, M.6
Chinnery, P.F.7
Horvath, R.8
-
11
-
-
67650549741
-
Queuosine formation in eukaryotic tRNA occurs via a mitochondria localized heteromeric transglycosylase
-
Boland, C., Hayes, P., Santa-Maria, I., Nishimura, S., and Kelly, V.P. (2009). Queuosine formation in eukaryotic tRNA occurs via a mitochondria localized heteromeric transglycosylase. The Journal of biological chemistry 284, 18218-18227.
-
(2009)
The Journal of biological chemistry
, vol.284
, pp. 18218-18227
-
-
Boland, C.1
Hayes, P.2
Santa-Maria, I.3
Nishimura, S.4
Kelly, V.P.5
-
12
-
-
84875307449
-
Human mitochondrial RNA decay mediated by PNPase-hSuv3 complex takes place in distinct foci
-
Borowski, L.S., Dziembowski, A., Hejnowicz, M.S., Stepien, P.P., and Szczesny, R.J. (2013). Human mitochondrial RNA decay mediated by PNPase-hSuv3 complex takes place in distinct foci. Nucleic Acids Res 41, 1223-1240.
-
(2013)
Nucleic Acids Res
, vol.41
, pp. 1223-1240
-
-
Borowski, L.S.1
Dziembowski, A.2
Hejnowicz, M.S.3
Stepien, P.P.4
Szczesny, R.J.5
-
13
-
-
77953790077
-
RNA turnover in human mitochondria: more questions than answers?
-
Borowski, L.S., Szczesny, R.J., Brzezniak, L.K., and Stepien, P.P. (2010). RNA turnover in human mitochondria: more questions than answers?. Biochim Biophys Acta 1797, 1066-1070.
-
(2010)
Biochim Biophys Acta
, vol.1797
, pp. 1066-1070
-
-
Borowski, L.S.1
Szczesny, R.J.2
Brzezniak, L.K.3
Stepien, P.P.4
-
14
-
-
84909594483
-
Structure of the large ribosomal subunit from human mitochondria
-
Brown, A., Amunts, A., Bai, X.C., Sugimoto, Y., Edwards, P.C., Murshudov, G., Scheres, S.H., and Ramakrishnan, V. (2014). Structure of the large ribosomal subunit from human mitochondria. Science 346, 718-722.
-
(2014)
Science
, vol.346
, pp. 718-722
-
-
Brown, A.1
Amunts, A.2
Bai, X.C.3
Sugimoto, Y.4
Edwards, P.C.5
Murshudov, G.6
Scheres, S.H.7
Ramakrishnan, V.8
-
15
-
-
3142735061
-
Isolation and characterization of the human tRNA-(N1G37) methyltransferase (TRM5) and comparison to the Escherichia coli TrmD protein
-
Brule, H., Elliott, M., Redlak, M., Zehner, Z.E., and Holmes, W.M. (2004). Isolation and characterization of the human tRNA-(N1G37) methyltransferase (TRM5) and comparison to the Escherichia coli TrmD protein. Biochemistry 43, 9243-9255.
-
(2004)
Biochemistry
, vol.43
, pp. 9243-9255
-
-
Brule, H.1
Elliott, M.2
Redlak, M.3
Zehner, Z.E.4
Holmes, W.M.5
-
16
-
-
85046980054
-
Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs
-
Brzezniak, L.K., Bijata, M., Szczesny, R.J., and Stepien, P.P. (2011). Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs. RNA Biol 8, 616-626.
-
(2011)
RNA Biol
, vol.8
, pp. 616-626
-
-
Brzezniak, L.K.1
Bijata, M.2
Szczesny, R.J.3
Stepien, P.P.4
-
17
-
-
8144221376
-
Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3
-
Bykhovskaya, Y., Mengesha, E., Wang, D., Yang, H., Estivill, X., Shohat, M., and Fischel-Ghodsian, N. (2004). Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. Molecular genetics and metabolism 83, 199-206.
-
(2004)
Molecular genetics and metabolism
, vol.83
, pp. 199-206
-
-
Bykhovskaya, Y.1
Mengesha, E.2
Wang, D.3
Yang, H.4
Estivill, X.5
Shohat, M.6
Fischel-Ghodsian, N.7
-
18
-
-
0032486097
-
Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation
-
Bykhovskaya, Y., Shohat, M., Ehrenman, K., Johnson, D., Hamon, M., Cantor, R.M., Aouizerat, B., Bu, X., Rotter, J.I., Jaber, L., et al. (1998). Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation. American journal of medical genetics 77, 421-426.
-
(1998)
American journal of medical genetics
, vol.77
, pp. 421-426
-
-
Bykhovskaya, Y.1
Shohat, M.2
Ehrenman, K.3
Johnson, D.4
Hamon, M.5
Cantor, R.M.6
Aouizerat, B.7
Bu, X.8
Rotter, J.I.9
Jaber, L.10
-
19
-
-
84908584244
-
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
-
Chakraborty, P.K., Schmitz-Abe, K., Kennedy, E.K., Mamady, H., Naas, T., Durie, D., Campagna, D.R., Lau, A., Sendamarai, A.K., Wiseman, D.H., et al. (2014). Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood 124, 2867-2871.
-
(2014)
Blood
, vol.124
, pp. 2867-2871
-
-
Chakraborty, P.K.1
Schmitz-Abe, K.2
Kennedy, E.K.3
Mamady, H.4
Naas, T.5
Durie, D.6
Campagna, D.R.7
Lau, A.8
Sendamarai, A.K.9
Wiseman, D.H.10
-
20
-
-
33751008668
-
Mammalian polynucleotide phosphorylase is an intermembrane space RNase that maintains mitochondrial homeostasis
-
Chen, H.W., Rainey, R.N., Balatoni, C.E., Dawson, D.W., Troke, J.J., Wasiak, S., Hong, J.S., McBride, H.M., Koehler, C.M., Teitell, M.A., et al. (2006). Mammalian polynucleotide phosphorylase is an intermembrane space RNase that maintains mitochondrial homeostasis. Mol Cell Biol 26, 8475-8487.
-
(2006)
Mol Cell Biol
, vol.26
, pp. 8475-8487
-
-
Chen, H.W.1
Rainey, R.N.2
Balatoni, C.E.3
Dawson, D.W.4
Troke, J.J.5
Wasiak, S.6
Hong, J.S.7
McBride, H.M.8
Koehler, C.M.9
Teitell, M.A.10
-
21
-
-
77951184968
-
Characterization of the human tRNA-guanine transglycosylase: confirmation of the heterodimeric subunit structure
-
Chen, Y.-C., Kelly, V.P., Stachura, S.V., and Garcia, G.A. (2010). Characterization of the human tRNA-guanine transglycosylase: confirmation of the heterodimeric subunit structure. RNA (New York, NY) 16, 958-968.
-
(2010)
RNA (New York, NY)
, vol.16
, pp. 958-968
-
-
Chen, Y.-C.1
Kelly, V.P.2
Stachura, S.V.3
Garcia, G.A.4
-
22
-
-
0034705419
-
The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes
-
Chomyn, A., Enriquez, J.A., Micol, V., Fernandez-Silva, P., and Attardi, G. (2000). The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. J Biol Chem 275, 19198-19209.
-
(2000)
J Biol Chem
, vol.275
, pp. 19198-19209
-
-
Chomyn, A.1
Enriquez, J.A.2
Micol, V.3
Fernandez-Silva, P.4
Attardi, G.5
-
23
-
-
84869822219
-
LRPPRC/SLIRP suppresses PNPase-mediated mRNA decay and promotes polyadenylation in human mitochondria
-
Chujo, T., Ohira, T., Sakaguchi, Y., Goshima, N., Nomura, N., Nagao, A., and Suzuki, T. (2012). LRPPRC/SLIRP suppresses PNPase-mediated mRNA decay and promotes polyadenylation in human mitochondria. Nucleic Acids Res 40, 8033-8047.
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 8033-8047
-
-
Chujo, T.1
Ohira, T.2
Sakaguchi, Y.3
Goshima, N.4
Nomura, N.5
Nagao, A.6
Suzuki, T.7
-
24
-
-
84869768792
-
Trmt61B is a methyltransferase responsible for 1-methyladenosine at position 58 of human mitochondrial tRNAs
-
Chujo, T., and Suzuki, T. (2012). Trmt61B is a methyltransferase responsible for 1-methyladenosine at position 58 of human mitochondrial tRNAs. RNA (New York, NY) 18, 2269-2276.
-
(2012)
RNA (New York, NY)
, vol.18
, pp. 2269-2276
-
-
Chujo, T.1
Suzuki, T.2
-
25
-
-
0032561194
-
MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae
-
Colby, G., Wu, M., and Tzagoloff, A. (1998). MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae. J Biol Chem 273, 27945-27952.
-
(1998)
J Biol Chem
, vol.273
, pp. 27945-27952
-
-
Colby, G.1
Wu, M.2
Tzagoloff, A.3
-
26
-
-
0029877358
-
Conformational flexibility in RNA: the role of dihydrouridine
-
Dalluge, J. (1996). Conformational flexibility in RNA: the role of dihydrouridine. Nucleic Acids Research 24, 1073-1079.
-
(1996)
Nucleic Acids Research
, vol.24
, pp. 1073-1079
-
-
Dalluge, J.1
-
27
-
-
0029566314
-
Stabilization of RNA stacking by pseudouridine
-
Davis, D.R. (1995). Stabilization of RNA stacking by pseudouridine. Nucleic acids research 23, 5020-5026.
-
(1995)
Nucleic acids research
, vol.23
, pp. 5020-5026
-
-
Davis, D.R.1
-
28
-
-
0027218236
-
MSS1, a nuclear-encoded mitochondrial GTPase involved in the expression of COX1 subunit of cytochrome c oxidase
-
Decoster, E., Vassal, A., and Faye, G. (1993). MSS1, a nuclear-encoded mitochondrial GTPase involved in the expression of COX1 subunit of cytochrome c oxidase. J Mol Biol 232, 79-88.
-
(1993)
J Mol Biol
, vol.232
, pp. 79-88
-
-
Decoster, E.1
Vassal, A.2
Faye, G.3
-
29
-
-
84902341648
-
Mutation or knock-down of 17beta-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts
-
Deutschmann, A.J., Amberger, A., Zavadil, C., Steinbeisser, H., Mayr, J.A., Feichtinger, R.G., Oerum, S., Yue, W.W., and Zschocke, J. (2014). Mutation or knock-down of 17beta-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts. Hum Mol Genet 23, 3618-3628.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 3618-3628
-
-
Deutschmann, A.J.1
Amberger, A.2
Zavadil, C.3
Steinbeisser, H.4
Mayr, J.A.5
Feichtinger, R.G.6
Oerum, S.7
Yue, W.W.8
Zschocke, J.9
-
30
-
-
84896862486
-
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes
-
Diodato, D., Ghezzi, D., and Tiranti, V. (2014). The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes. International journal of cell biology 2014, 787956.
-
(2014)
International journal of cell biology
, vol.2014
-
-
Diodato, D.1
Ghezzi, D.2
Tiranti, V.3
-
31
-
-
0024602506
-
Amino-terminal extension generated from an upstream AUG codon increases the efficiency of mitochondrial import of yeast Amino-Terminal Extension Generated from an Upstream AUG Codon Increases the Efficiency of Mitochondrial Import of Yeast
-
Ellis, S.R., Hopper, A.K., and Martin, N.C. (1989). Amino-terminal extension generated from an upstream AUG codon increases the efficiency of mitochondrial import of yeast Amino-Terminal Extension Generated from an Upstream AUG Codon Increases the Efficiency of Mitochondrial Import of Yeast. Molecular and Cellular Biology 9, 1611-1620.
-
(1989)
Molecular and Cellular Biology
, vol.9
, pp. 1611-1620
-
-
Ellis, S.R.1
Hopper, A.K.2
Martin, N.C.3
-
32
-
-
34147144142
-
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
-
Fernandez-Vizarra, E., Berardinelli, A., Valente, L., Tiranti, V., and Zeviani, M. (2007). Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). Journal of medical genetics 44, 173-180.
-
(2007)
Journal of medical genetics
, vol.44
, pp. 173-180
-
-
Fernandez-Vizarra, E.1
Berardinelli, A.2
Valente, L.3
Tiranti, V.4
Zeviani, M.5
-
34
-
-
84892736006
-
Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases
-
Gaignard, P., Gonzales, E., Ackermann, O., Labrune, P., Correia, I., Therond, P., Jacquemin, E., and Slama, A. (2013). Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases. JIMD reports 11, 117-123.
-
(2013)
JIMD reports
, vol.11
, pp. 117-123
-
-
Gaignard, P.1
Gonzales, E.2
Ackermann, O.3
Labrune, P.4
Correia, I.5
Therond, P.6
Jacquemin, E.7
Slama, A.8
-
35
-
-
84862129211
-
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis
-
Ghezzi, D., Baruffini, E., Haack, T.B., Invernizzi, F., Melchionda, L., Dallabona, C., Strom, T.M., Parini, R., Burlina, A.B., Meitinger, T., et al. (2012). Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. American journal of human genetics 90, 1079-1087.
-
(2012)
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
Strom, T.M.7
Parini, R.8
Burlina, A.B.9
Meitinger, T.10
-
36
-
-
84922065877
-
The complete structure of the large subunit of the mammalian mitochondrial ribosome
-
Greber, B.J., Boehringer, D., Leibundgut, M., Bieri, P., Leitner, A., Schmitz, N., Aebersold, R., and Ban, N. (2014). The complete structure of the large subunit of the mammalian mitochondrial ribosome. Nature 515, 283-286.
-
(2014)
Nature
, vol.515
, pp. 283-286
-
-
Greber, B.J.1
Boehringer, D.2
Leibundgut, M.3
Bieri, P.4
Leitner, A.5
Schmitz, N.6
Aebersold, R.7
Ban, N.8
-
37
-
-
84894464663
-
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening
-
Haack, T.B., Gorza, M., Danhauser, K., Mayr, J.A., Haberberger, B., Wieland, T., Kremer, L., Strecker, V., Graf, E., Memari, Y., et al. (2014). Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. Molecular genetics and metabolism 111, 342-352.
-
(2014)
Molecular genetics and metabolism
, vol.111
, pp. 342-352
-
-
Haack, T.B.1
Gorza, M.2
Danhauser, K.3
Mayr, J.A.4
Haberberger, B.5
Wieland, T.6
Kremer, L.7
Strecker, V.8
Graf, E.9
Memari, Y.10
-
38
-
-
84881663733
-
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy
-
Haack, T.B., Kopajtich, R., Freisinger, P., Wieland, T., Rorbach, J., Nicholls, T.J., Baruffini, E., Walther, A., Danhauser, K., Zimmermann, F.A., et al. (2013). ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. American journal of human genetics 93, 211-223.
-
(2013)
American journal of human genetics
, vol.93
, pp. 211-223
-
-
Haack, T.B.1
Kopajtich, R.2
Freisinger, P.3
Wieland, T.4
Rorbach, J.5
Nicholls, T.J.6
Baruffini, E.7
Walther, A.8
Danhauser, K.9
Zimmermann, F.A.10
-
39
-
-
0032867610
-
A Watson-Crick Base-Pair-Disrupting Methyl Group (m 1 A9) Is Sufficient for Cloverleaf Folding of Human Mitochondrial tRNA Lys
-
Helm, M., Giegé, R., and Florentz, C. (1999). A Watson-Crick Base-Pair-Disrupting Methyl Group (m 1 A9) Is Sufficient for Cloverleaf Folding of Human Mitochondrial tRNA Lys. Biochemistry 38, 13338-13346.
-
(1999)
Biochemistry
, vol.38
, pp. 13338-13346
-
-
Helm, M.1
Giegé, R.2
Florentz, C.3
-
40
-
-
54549088876
-
RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme
-
Holzmann, J., Frank, P., Loffler, E., Bennett, K.L., Gerner, C., and Rossmanith, W. (2008). RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme. Cell 135, 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
-
41
-
-
84893751803
-
Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations
-
Hornig-Do, H.T., Montanari, A., Rozanska, A., Tuppen, H.A., Almalki, A.A., Abg-Kamaludin, D.P., Frontali, L., Francisci, S., Lightowlers, R.N., and Chrzanowska-Lightowlers, Z.M. (2014). Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations. EMBO molecular medicine 6, 183-193.
-
(2014)
EMBO molecular medicine
, vol.6
, pp. 183-193
-
-
Hornig-Do, H.T.1
Montanari, A.2
Rozanska, A.3
Tuppen, H.A.4
Almalki, A.A.5
Abg-Kamaludin, D.P.6
Frontali, L.7
Francisci, S.8
Lightowlers, R.N.9
Chrzanowska-Lightowlers, Z.M.10
-
42
-
-
21344437285
-
A novel human tRNA-dihydrouridine synthase involved in pulmonary carcinogenesis
-
Kato, T., Daigo, Y., Hayama, S., Ishikawa, N., Yamabuki, T., Ito, T., Miyamoto, M., Kondo, S., and Nakamura, Y. (2005). A novel human tRNA-dihydrouridine synthase involved in pulmonary carcinogenesis. Cancer research 65, 5638-5646.
-
(2005)
Cancer research
, vol.65
, pp. 5638-5646
-
-
Kato, T.1
Daigo, Y.2
Hayama, S.3
Ishikawa, N.4
Yamabuki, T.5
Ito, T.6
Miyamoto, M.7
Kondo, S.8
Nakamura, Y.9
-
43
-
-
18844430007
-
Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease
-
Kirino, Y., Goto, Y., Campos, Y., Arenas, J., and Suzuki, T. (2005). Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease. Proc Natl Acad Sci U S A 102, 7127-7132.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 7127-7132
-
-
Kirino, Y.1
Goto, Y.2
Campos, Y.3
Arenas, J.4
Suzuki, T.5
-
44
-
-
33644773651
-
Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect
-
Kirino, Y., Yasukawa, T., Marjavaara, S.K., Jacobs, H.T., Holt, I.J., Watanabe, K., and Suzuki, T. (2006). Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect. Hum Mol Genet 15, 897-904.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 897-904
-
-
Kirino, Y.1
Yasukawa, T.2
Marjavaara, S.K.3
Jacobs, H.T.4
Holt, I.J.5
Watanabe, K.6
Suzuki, T.7
-
45
-
-
0026694182
-
Evidence against a mitochondrial location of the 7-2/MRP RNA in mammalian cells
-
Kiss, T., and Filipowicz, W. (1992). Evidence against a mitochondrial location of the 7-2/MRP RNA in mammalian cells. Cell 70, 11-16.
-
(1992)
Cell
, vol.70
, pp. 11-16
-
-
Kiss, T.1
Filipowicz, W.2
-
46
-
-
84875256031
-
Mitochondrial aminoacyl-tRNA synthetases in human disease
-
Konovalova, S., and Tyynismaa, H. (2013). Mitochondrial aminoacyl-tRNA synthetases in human disease. Mol Genet Metab 108, 206-211.
-
(2013)
Mol Genet Metab
, vol.108
, pp. 206-211
-
-
Konovalova, S.1
Tyynismaa, H.2
-
47
-
-
84919678076
-
Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy Lactic Acidosis Encephalopathy.
-
Kopajtich, R., Nicholls, T.J., Rorbach, J., Metodiev, M.D., Freisinger, P., Mandel, H., Vanlander, A., Ghezzi, D., Carrozzo, R., Taylor, R.W., et al. (2014). Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy. The American Journal of Human Genetics.
-
(2014)
The American Journal of Human Genetics.
-
-
Kopajtich, R.1
Nicholls, T.J.2
Rorbach, J.3
Metodiev, M.D.4
Freisinger, P.5
Mandel, H.6
Vanlander, A.7
Ghezzi, D.8
Carrozzo, R.9
Taylor, R.W.10
-
48
-
-
84880693760
-
Lack of tRNA modification isopentenyl-A37 alters mRNA decoding and causes metabolic deficiencies in fission yeast
-
Lamichhane, T.N., Blewett, N.H., Crawford, A.K., Cherkasova, V.A., Iben, J.R., Begley, T.J., Farabaugh, P.J., and Maraia, R.J. (2013). Lack of tRNA modification isopentenyl-A37 alters mRNA decoding and causes metabolic deficiencies in fission yeast. Molecular and cellular biology 33, 2918-2929.
-
(2013)
Molecular and cellular biology
, vol.33
, pp. 2918-2929
-
-
Lamichhane, T.N.1
Blewett, N.H.2
Crawford, A.K.3
Cherkasova, V.A.4
Iben, J.R.5
Begley, T.J.6
Farabaugh, P.J.7
Maraia, R.J.8
-
49
-
-
84893137842
-
Human cells have a limited set of tRNA anticodon loop substrates of the tRNA isopentenyltransferase TRIT1 tumor suppressor
-
Lamichhane, T.N., Mattijssen, S., and Maraia, R.J. (2013). Human cells have a limited set of tRNA anticodon loop substrates of the tRNA isopentenyltransferase TRIT1 tumor suppressor. Molecular and cellular biology 33, 4900-4908.
-
(2013)
Molecular and cellular biology
, vol.33
, pp. 4900-4908
-
-
Lamichhane, T.N.1
Mattijssen, S.2
Maraia, R.J.3
-
50
-
-
0031914957
-
Characterization of yeast protein Deg1 as pseudouridine synthase (Pus3) catalyzing the formation of psi 38 and psi 39 in tRNA anticodon loop
-
Lecointe, F., Simos, G., Sauer, A., Hurt, E.C., Motorin, Y., and Grosjean, H. (1998). Characterization of yeast protein Deg1 as pseudouridine synthase (Pus3) catalyzing the formation of psi 38 and psi 39 in tRNA anticodon loop. The Journal of biological chemistry 273, 1316-1323.
-
(1998)
The Journal of biological chemistry
, vol.273
, pp. 1316-1323
-
-
Lecointe, F.1
Simos, G.2
Sauer, A.3
Hurt, E.C.4
Motorin, Y.5
Grosjean, H.6
-
51
-
-
1542298923
-
A pathogenesis associated mutation in human mitochondrial tRNALeu(UUR) leads to reduced 3'-end processing and CCA addition
-
Levinger, L., Oestreich, I., Florentz, C., and Mörl, M. (2004). A pathogenesis associated mutation in human mitochondrial tRNALeu(UUR) leads to reduced 3'-end processing and CCA addition. Journal of molecular biology 337, 535-544.
-
(2004)
Journal of molecular biology
, vol.337
, pp. 535-544
-
-
Levinger, L.1
Oestreich, I.2
Florentz, C.3
Mörl, M.4
-
52
-
-
0036837683
-
A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness associated mitochondrial 12S rRNA mutation
-
Li, X., and Guan, M.-X. (2002). A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness associated mitochondrial 12S rRNA mutation. Molecular and cellular biology 22, 7701-7711.
-
(2002)
Molecular and cellular biology
, vol.22
, pp. 7701-7711
-
-
Li, X.1
Guan, M.-X.2
-
53
-
-
0037178851
-
Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation
-
Li, X., Li, R., Lin, X., and Guan, M.-X. (2002). Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation. The Journal of biological chemistry 277, 27256-27264.
-
(2002)
The Journal of biological chemistry
, vol.277
, pp. 27256-27264
-
-
Li, X.1
Li, R.2
Lin, X.3
Guan, M.-X.4
-
54
-
-
0034666278
-
The human tRNA(m(2)(2)G(26))dimethyltransferase: functional expression and characterization of a cloned hTRM1 gene
-
Liu, J., and Straby, K.B. (2000). The human tRNA(m(2)(2)G(26))dimethyltransferase: functional expression and characterization of a cloned hTRM1 gene. Nucleic Acids Res 28, 3445-3451.
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 3445-3451
-
-
Liu, J.1
Straby, K.B.2
-
55
-
-
80052395499
-
RNA processing in human mitochondria
-
Lopez Sanchez, M.I., Mercer, T.R., Davies, S.M., Shearwood, A.M., Nygard, K.K., Richman, T.R., Mattick, J.S., Rackham, O., and Filipovska, A. (2011). RNA processing in human mitochondria. Cell Cycle 10, 2904-2916.
-
(2011)
Cell Cycle
, vol.10
, pp. 2904-2916
-
-
Lopez Sanchez, M.I.1
Mercer, T.R.2
Davies, S.M.3
Shearwood, A.M.4
Nygard, K.K.5
Richman, T.R.6
Mattick, J.S.7
Rackham, O.8
Filipovska, A.9
-
56
-
-
56649114570
-
Synthesis and investigation of the 5-formylcytidine modified, anticodon stem and loop of the human mitochondrial tRNAMet
-
Lusic, H., Gustilo, E.M., Vendeix, F.A.P., Kaiser, R., Delaney, M.O., Graham, W.D., Moye, V.A., Cantara, W.A., Agris, P.F., and Deiters, A. (2008). Synthesis and investigation of the 5-formylcytidine modified, anticodon stem and loop of the human mitochondrial tRNAMet. Nucleic acids research 36, 6548-6557.
-
(2008)
Nucleic acids research
, vol.36
, pp. 6548-6557
-
-
Lusic, H.1
Gustilo, E.M.2
Vendeix, F.A.P.3
Kaiser, R.4
Delaney, M.O.5
Graham, W.D.6
Moye, V.A.7
Cantara, W.A.8
Agris, P.F.9
Deiters, A.10
-
57
-
-
0035787915
-
Initiator tRNA and its role in initiation of protein synthesis
-
Mayer, C., Stortchevoi, A., Köhrer, C., Varshney, U., and RajBhandary, U.L. (2001). Initiator tRNA and its role in initiation of protein synthesis. Cold Spring Harbor symposia on quantitative biology 66, 195-206.
-
(2001)
Cold Spring Harbor symposia on quantitative biology
, vol.66
, pp. 195-206
-
-
Mayer, C.1
Stortchevoi, A.2
Köhrer, C.3
Varshney, U.4
RajBhandary, U.L.5
-
58
-
-
0036929748
-
Localisation of the human hSuv3p helicase in the mitochondrial matrix and its preferential unwinding of dsDNA
-
Minczuk, M., Piwowarski, J., Papworth, M.A., Awiszus, K., Schalinski, S., Dziembowski, A., Dmochowska, A., Bartnik, E., Tokatlidis, K., Stepien, P.P., et al. (2002). Localisation of the human hSuv3p helicase in the mitochondrial matrix and its preferential unwinding of dsDNA. Nucleic Acids Res 30, 5074-5086.
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 5074-5086
-
-
Minczuk, M.1
Piwowarski, J.2
Papworth, M.A.3
Awiszus, K.4
Schalinski, S.5
Dziembowski, A.6
Dmochowska, A.7
Bartnik, E.8
Tokatlidis, K.9
Stepien, P.P.10
-
59
-
-
0033057704
-
The 3' end CCA of mature tRNA is an antideterminant for eukaryotic 3'-tRNase
-
Mohan, A., Whyte, S., Wang, X., Nashimoto, M., and Levinger, L. (1999). The 3' end CCA of mature tRNA is an antideterminant for eukaryotic 3'-tRNase. RNA (New York, NY) 5, 245-256.
-
(1999)
RNA (New York, NY)
, vol.5
, pp. 245-256
-
-
Mohan, A.1
Whyte, S.2
Wang, X.3
Nashimoto, M.4
Levinger, L.5
-
60
-
-
0028226958
-
A novel modified nucleoside found at the first position of the anticodon of methionine tRNA from bovine liver mitochondria
-
Moriya, J., Yokogawa, T., Wakita, K., Ueda, T., Nishikawa, K., Crain, P.F., Hashizume, T., Pomerantz, S.C., McCloskey, J.A., Kawai, G., et al. (1994). A novel modified nucleoside found at the first position of the anticodon of methionine tRNA from bovine liver mitochondria. Biochemistry 33, 2234-2239.
-
(1994)
Biochemistry
, vol.33
, pp. 2234-2239
-
-
Moriya, J.1
Yokogawa, T.2
Wakita, K.3
Ueda, T.4
Nishikawa, K.5
Crain, P.F.6
Hashizume, T.7
Pomerantz, S.C.8
McCloskey, J.A.9
Kawai, G.10
-
61
-
-
0032925775
-
The effect of queuosine on tRNA structure and function
-
Morris, R.C., Brown, K.G., and Elliott, M.S. (1999). The effect of queuosine on tRNA structure and function. Journal of biomolecular structure & dynamics 16, 757-774.
-
(1999)
Journal of biomolecular structure & dynamics
, vol.16
, pp. 757-774
-
-
Morris, R.C.1
Brown, K.G.2
Elliott, M.S.3
-
62
-
-
73649122039
-
Evolutionarily conserved proteins MnmE and GidA catalyze the formation of two methyluridine derivatives at tRNA wobble positions
-
Moukadiri, I., Prado, S., Piera, J., Velazquez-Campoy, A., Bjork, G.R., and Armengod, M.E. (2009). Evolutionarily conserved proteins MnmE and GidA catalyze the formation of two methyluridine derivatives at tRNA wobble positions. Nucleic Acids Res 37, 7177-7193.
-
(2009)
Nucleic Acids Res
, 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
-
63
-
-
21244454028
-
Human mitochondrial mRNAs are stabilized with polyadenylation regulated by mitochondria specific poly(A) polymerase and polynucleotide phosphorylase
-
Nagaike, T., Suzuki, T., Katoh, T., and Ueda, T. (2005). Human mitochondrial mRNAs are stabilized with polyadenylation regulated by mitochondria specific poly(A) polymerase and polynucleotide phosphorylase. J Biol Chem 280, 19721-19727.
-
(2005)
J Biol Chem
, vol.280
, pp. 19721-19727
-
-
Nagaike, T.1
Suzuki, T.2
Katoh, T.3
Ueda, T.4
-
64
-
-
0035955658
-
Identification and characterization of mammalian mitochondrial tRNA nucleotidyltransferases
-
Nagaike, T., Suzuki, T., Tomari, Y., Takemoto-Hori, C., Negayama, F., Watanabe, K., and Ueda, T. (2001). Identification and characterization of mammalian mitochondrial tRNA nucleotidyltransferases. J Biol Chem 276, 40041-40049.
-
(2001)
J Biol Chem
, vol.276
, pp. 40041-40049
-
-
Nagaike, T.1
Suzuki, T.2
Tomari, Y.3
Takemoto-Hori, C.4
Negayama, F.5
Watanabe, K.6
Ueda, T.7
-
65
-
-
80053906761
-
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
-
Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S.S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011). Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478, 57-63.
-
(2011)
Nature
, vol.478
, pp. 57-63
-
-
Najmabadi, H.1
Hu, H.2
Garshasbi, M.3
Zemojtel, T.4
Abedini, S.S.5
Chen, W.6
Hosseini, M.7
Behjati, F.8
Haas, S.9
Jamali, P.10
-
66
-
-
1842582668
-
Yeast Nfs1p is involved in thio-modification of both mitochondrial and cytoplasmic tRNAs
-
Nakai, Y., Umeda, N., Suzuki, T., Nakai, M., Hayashi, H., Watanabe, K., and Kagamiyama, H. (2004). Yeast Nfs1p is involved in thio-modification of both mitochondrial and cytoplasmic tRNAs. The Journal of biological chemistry 279, 12363-12368.
-
(2004)
The Journal of biological chemistry
, vol.279
, pp. 12363-12368
-
-
Nakai, Y.1
Umeda, N.2
Suzuki, T.3
Nakai, M.4
Hayashi, H.5
Watanabe, K.6
Kagamiyama, H.7
-
67
-
-
84891365705
-
Structural basis of reverse nucleotide polymerization
-
Nakamura, A., Nemoto, T., Heinemann, I.U., Yamashita, K., Sonoda, T., Komoda, K., Tanaka, I., Soll, D., and Yao, M. (2013). Structural basis of reverse nucleotide polymerization. Proc Natl Acad Sci U S A 110, 20970-20975.
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 20970-20975
-
-
Nakamura, A.1
Nemoto, T.2
Heinemann, I.U.3
Yamashita, K.4
Sonoda, T.5
Komoda, K.6
Tanaka, I.7
Soll, D.8
Yao, M.9
-
68
-
-
84887021234
-
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT
-
Neeve, V.C.M., Pyle, A., Boczonadi, V., Gomez-Duran, A., Griffin, H., Santibanez-Koref, M., Gaiser, U., Bauer, P., Tzschach, A., Chinnery, P.F., et al. (2013). Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. Mitochondrion 13, 743-748.
-
(2013)
Mitochondrion
, vol.13
, pp. 743-748
-
-
Neeve, V.C.M.1
Pyle, A.2
Boczonadi, V.3
Gomez-Duran, A.4
Griffin, H.5
Santibanez-Koref, M.6
Gaiser, U.7
Bauer, P.8
Tzschach, A.9
Chinnery, P.F.10
-
70
-
-
84873700649
-
Mitochondria: mitochondrial RNA metabolism and human disease
-
Nicholls, T.J., Rorbach, J., and Minczuk, M. (2013). Mitochondria: mitochondrial RNA metabolism and human disease. The international journal of biochemistry & cell biology 45, 845-849.
-
(2013)
The international journal of biochemistry & cell biology
, vol.45
, pp. 845-849
-
-
Nicholls, T.J.1
Rorbach, J.2
Minczuk, M.3
-
71
-
-
70350132871
-
Qri7/OSGEPL, the mitochondrial version of the universal Kae1/YgjD protein, is essential for mitochondrial genome maintenance
-
Oberto, J., Breuil, N., Hecker, A., Farina, F., Brochier-Armanet, C., Culetto, E., and Forterre, P. (2009). Qri7/OSGEPL, the mitochondrial version of the universal Kae1/YgjD protein, is essential for mitochondrial genome maintenance. Nucleic acids research 37, 5343-5352.
-
(2009)
Nucleic acids research
, vol.37
, pp. 5343-5352
-
-
Oberto, J.1
Breuil, N.2
Hecker, A.3
Farina, F.4
Brochier-Armanet, C.5
Culetto, E.6
Forterre, P.7
-
72
-
-
0037730098
-
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene
-
Ofman, R., Ruiter, J.P., Feenstra, M., Duran, M., Poll-The, B.T., Zschocke, J., Ensenauer, R., Lehnert, W., Sass, J.O., Sperl, W., et al. (2003). 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. American journal of human genetics 72, 1300-1307.
-
(2003)
American journal of human genetics
, vol.72
, pp. 1300-1307
-
-
Ofman, R.1
Ruiter, J.P.2
Feenstra, M.3
Duran, M.4
Poll-The, B.T.5
Zschocke, J.6
Ensenauer, R.7
Lehnert, W.8
Sass, J.O.9
Sperl, W.10
-
73
-
-
0019444843
-
tRNA punctuation model of RNA processing in human mitochondria
-
Ojala, D., Montoya, J., and Attardi, G. (1981). tRNA punctuation model of RNA processing in human mitochondria. Nature 290, 470-474.
-
(1981)
Nature
, vol.290
, pp. 470-474
-
-
Ojala, D.1
Montoya, J.2
Attardi, G.3
-
74
-
-
46349103594
-
A mitochondrial protein compendium elucidates complex I disease biology
-
Pagliarini, D.J., Calvo, S.E., Chang, B., Sheth, S.A., Vafai, S.B., Ong, S.E., Walford, G.A., Sugiana, C., Boneh, A., Chen, W.K., et al. (2008). A mitochondrial protein compendium elucidates complex I disease biology. Cell 134, 112-123.
-
(2008)
Cell
, vol.134
, pp. 112-123
-
-
Pagliarini, D.J.1
Calvo, S.E.2
Chang, B.3
Sheth, S.A.4
Vafai, S.B.5
Ong, S.E.6
Walford, G.A.7
Sugiana, C.8
Boneh, A.9
Chen, W.K.10
-
75
-
-
21244449941
-
Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation
-
Patton, J.R., Bykhovskaya, Y., Mengesha, E., Bertolotto, C., and Fischel-Ghodsian, N. (2005). Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. J Biol Chem 280, 19823-19828.
-
(2005)
J Biol Chem
, vol.280
, pp. 19823-19828
-
-
Patton, J.R.1
Bykhovskaya, Y.2
Mengesha, E.3
Bertolotto, C.4
Fischel-Ghodsian, N.5
-
76
-
-
84893777996
-
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells
-
Perli, E., Giordano, C., Pisano, A., Montanari, A., Campese, A.F., Reyes, A., Ghezzi, D., Nasca, A., Tuppen, H.A., Orlandi, M., et al. (2014). The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells. EMBO molecular medicine 6, 169-182.
-
(2014)
EMBO molecular medicine
, vol.6
, pp. 169-182
-
-
Perli, E.1
Giordano, C.2
Pisano, A.3
Montanari, A.4
Campese, A.F.5
Reyes, A.6
Ghezzi, D.7
Nasca, A.8
Tuppen, H.A.9
Orlandi, M.10
-
77
-
-
0037869109
-
Human polynucleotide phosphorylase, hPNPase, is localized in mitochondria
-
Piwowarski, J., Grzechnik, P., Dziembowski, A., Dmochowska, A., Minczuk, M., and Stepien, P.P. (2003). Human polynucleotide phosphorylase, hPNPase, is localized in mitochondria. J Mol Biol 329, 853-857.
-
(2003)
J Mol Biol
, vol.329
, pp. 853-857
-
-
Piwowarski, J.1
Grzechnik, P.2
Dziembowski, A.3
Dmochowska, A.4
Minczuk, M.5
Stepien, P.P.6
-
78
-
-
0035159226
-
The RNase P associated with HeLa cell mitochondria contains an essential RNA component identical in sequence to that of the nuclear RNase P
-
Puranam, R.S., and Attardi, G. (2001). The RNase P associated with HeLa cell mitochondria contains an essential RNA component identical in sequence to that of the nuclear RNase P. Mol Cell Biol 21, 548-561.
-
(2001)
Mol Cell Biol
, vol.21
, pp. 548-561
-
-
Puranam, R.S.1
Attardi, G.2
-
79
-
-
84864450117
-
The CDK5 repressor CDK5RAP1 is a methylthiotransferase acting on nuclear and mitochondrial RNA
-
Reiter, V., Matschkal, D.M.S., Wagner, M., Globisch, D., Kneuttinger, A.C., Müller, M., and Carell, T. (2012). The CDK5 repressor CDK5RAP1 is a methylthiotransferase acting on nuclear and mitochondrial RNA. Nucleic acids research 40, 6235-6240.
-
(2012)
Nucleic acids research
, vol.40
, pp. 6235-6240
-
-
Reiter, V.1
Matschkal, D.M.S.2
Wagner, M.3
Globisch, D.4
Kneuttinger, A.C.5
Müller, M.6
Carell, T.7
-
80
-
-
0016354122
-
Structure of yeast phenylalanine tRNA at 3 A resolution
-
Robertus, J.D., Ladner, J.E., Finch, J.T., Rhodes, D., Brown, R.S., Clark, B.F., and Klug, A. (1974). Structure of yeast phenylalanine tRNA at 3 A resolution. Nature 250, 546-551.
-
(1974)
Nature
, vol.250
, pp. 546-551
-
-
Robertus, J.D.1
Ladner, J.E.2
Finch, J.T.3
Rhodes, D.4
Brown, R.S.5
Clark, B.F.6
Klug, A.7
-
81
-
-
84890231951
-
Ribosome profiling reveals features of normal and disease-associated mitochondrial translation
-
Rooijers, K., Loayza-Puch, F., Nijtmans, L.G., and Agami, R. (2013). Ribosome profiling reveals features of normal and disease-associated mitochondrial translation. Nature communications 4, 2886.
-
(2013)
Nature communications
, vol.4
, pp. 2886
-
-
Rooijers, K.1
Loayza-Puch, F.2
Nijtmans, L.G.3
Agami, R.4
-
82
-
-
84862227617
-
The post-transcriptional life of mammalian mitochondrial RNA
-
Rorbach, J., and Minczuk, M. (2012). The post-transcriptional life of mammalian mitochondrial RNA. Biochem J 444, 357-373.
-
(2012)
Biochem J
, vol.444
, pp. 357-373
-
-
Rorbach, J.1
Minczuk, M.2
-
83
-
-
79955716664
-
Localization of human RNase Z isoforms: dual nuclear/mitochondrial targeting of the ELAC2 gene product by alternative translation initiation
-
Rossmanith, W. (2011). Localization of human RNase Z isoforms: dual nuclear/mitochondrial targeting of the ELAC2 gene product by alternative translation initiation. PloS one 6, e19152.
-
(2011)
PloS one
, vol.6
-
-
Rossmanith, W.1
-
84
-
-
84864318790
-
Of P and Z: mitochondrial tRNA processing enzymes
-
Rossmanith, W. (2012). Of P and Z: mitochondrial tRNA processing enzymes. Biochim Biophys Acta 1819, 1017-1026.
-
(2012)
Biochim Biophys Acta
, vol.1819
, pp. 1017-1026
-
-
Rossmanith, W.1
-
85
-
-
0032555354
-
Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu)(UUR) associated with mitochondrial diseases
-
Rossmanith, W., and Karwan, R.M. (1998). Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu)(UUR) associated with mitochondrial diseases. FEBS Lett 433, 269-274.
-
(1998)
FEBS Lett
, vol.433
, pp. 269-274
-
-
Rossmanith, W.1
Karwan, R.M.2
-
86
-
-
15044362242
-
Modification at position 9 with 1-methyladenosine is crucial for structure and function of nematode mitochondrial tRNAs lacking the entire T-arm
-
Sakurai, M., Ohtsuki, T., and Watanabe, K. (2005). Modification at position 9 with 1-methyladenosine is crucial for structure and function of nematode mitochondrial tRNAs lacking the entire T-arm. Nucleic acids research 33, 1653-1661.
-
(2005)
Nucleic acids research
, vol.33
, pp. 1653-1661
-
-
Sakurai, M.1
Ohtsuki, T.2
Watanabe, K.3
-
87
-
-
81255169321
-
The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation
-
Sasarman, F., Antonicka, H., Horvath, R., and Shoubridge, E.A. (2011). The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation. Human molecular genetics 20, 4634-4643.
-
(2011)
Human molecular genetics
, vol.20
, pp. 4634-4643
-
-
Sasarman, F.1
Antonicka, H.2
Horvath, R.3
Shoubridge, E.A.4
-
88
-
-
79953746628
-
Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia
-
Schaller, A., Desetty, R., Hahn, D., Jackson, C.B., Nuoffer, J.M., Gallati, S., and Levinger, L. (2011). Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia. Mitochondrion 11, 488-496.
-
(2011)
Mitochondrion
, vol.11
, pp. 488-496
-
-
Schaller, A.1
Desetty, R.2
Hahn, D.3
Jackson, C.B.4
Nuoffer, J.M.5
Gallati, S.6
Levinger, L.7
-
89
-
-
79955799806
-
Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations
-
Schara, U., von Kleist-Retzow, J.-C., Lainka, E., Gerner, P., Pyle, A., Smith, P.M., Lochmüller, H., Czermin, B., Abicht, A., Holinski-Feder, E., et al. (2011). Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations. Journal of inherited metabolic disease 34, 197-201.
-
(2011)
Journal of inherited metabolic disease
, vol.34
, pp. 197-201
-
-
Schara, U.1
von Kleist-Retzow, J.-C.2
Lainka, E.3
Gerner, P.4
Pyle, A.5
Smith, P.M.6
Lochmüller, H.7
Czermin, B.8
Abicht, A.9
Holinski-Feder, E.10
-
90
-
-
84862236831
-
MitoMiner: a data warehouse for mitochondrial proteomics data
-
Smith, A.C., Blackshaw, J.A., and Robinson, A.J. (2012). MitoMiner: a data warehouse for mitochondrial proteomics data. Nucleic Acids Res 40, D1160-1167.
-
(2012)
Nucleic Acids Res
, vol.40
, pp. D1160-D1167
-
-
Smith, A.C.1
Blackshaw, J.A.2
Robinson, A.J.3
-
91
-
-
24644439576
-
Identification and functional characterization of the candidate tumor suppressor gene TRIT1 in human lung cancer
-
Spinola, M., Galvan, A., Pignatiello, C., Conti, B., Pastorino, U., Nicander, B., Paroni, R., and Dragani, T.A. (2005). Identification and functional characterization of the candidate tumor suppressor gene TRIT1 in human lung cancer. Oncogene 24, 5502-5509.
-
(2005)
Oncogene
, vol.24
, pp. 5502-5509
-
-
Spinola, M.1
Galvan, A.2
Pignatiello, C.3
Conti, B.4
Pastorino, U.5
Nicander, B.6
Paroni, R.7
Dragani, T.A.8
-
92
-
-
0034619418
-
Functional anticodon architecture of human tRNALys3 includes disruption of intraloop hydrogen bonding by the naturally occurring amino acid modification, t6A
-
Stuart, J.W., Gdaniec, Z., Guenther, R., Marszalek, M., Sochacka, E., Malkiewicz, A., and Agris, P.F. (2000). Functional anticodon architecture of human tRNALys3 includes disruption of intraloop hydrogen bonding by the naturally occurring amino acid modification, t6A. Biochemistry 39, 13396-13404.
-
(2000)
Biochemistry
, vol.39
, pp. 13396-13404
-
-
Stuart, J.W.1
Gdaniec, Z.2
Guenther, R.3
Marszalek, M.4
Sochacka, E.5
Malkiewicz, A.6
Agris, P.F.7
-
93
-
-
80755169463
-
Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases
-
Suzuki, T., Nagao, A., and Suzuki, T. (2011). Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases. Annu Rev Genet 45, 299-329.
-
(2011)
Annu Rev Genet
, vol.45
, pp. 299-329
-
-
Suzuki, T.1
Nagao, A.2
Suzuki, T.3
-
94
-
-
84903151976
-
A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs
-
Suzuki, T., and Suzuki, T. (2014). A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs. Nucleic Acids Res 42, 7346-7357.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. 7346-7357
-
-
Suzuki, T.1
Suzuki, T.2
-
95
-
-
0037011177
-
Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine human mitochondrial diseases.
-
Suzuki, T., Wada, T., Saigo, K., and Watanabe, K. (2002). Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases. The EMBO journal 21, 6581-6589.
-
(2002)
The EMBO journal
, vol.21
, pp. 6581-6589
-
-
Suzuki, T.1
Wada, T.2
Saigo, K.3
Watanabe, K.4
-
96
-
-
75649152422
-
Human mitochondrial RNA turnover caught in flagranti: involvement of hSuv3p helicase in RNA surveillance
-
Szczesny, R.J., Borowski, L.S., Brzezniak, L.K., Dmochowska, A., Gewartowski, K., Bartnik, E., and Stepien, P.P. (2010). Human mitochondrial RNA turnover caught in flagranti: involvement of hSuv3p helicase in RNA surveillance. Nucleic Acids Res 38, 279-298.
-
(2010)
Nucleic Acids Res
, 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
Stepien, P.P.7
-
97
-
-
0038750928
-
A candidate prostate cancer susceptibility gene encodes tRNA 3' processing endoribonuclease
-
Takaku, H., Minagawa, A., Takagi, M., and Nashimoto, M. (2003). A candidate prostate cancer susceptibility gene encodes tRNA 3' processing endoribonuclease. Nucleic Acids Res 31, 2272-2278.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 2272-2278
-
-
Takaku, H.1
Minagawa, A.2
Takagi, M.3
Nashimoto, M.4
-
98
-
-
63249103619
-
Unconventional decoding of the AUA codon as methionine by mitochondrial tRNAMet with the anticodon f5CAU as revealed with a mitochondrial in vitro translation system
-
Takemoto, C., Spremulli, L.L., Benkowski, L.A., Ueda, T., Yokogawa, T., and Watanabe, K. (2009). Unconventional decoding of the AUA codon as methionine by mitochondrial tRNAMet with the anticodon f5CAU as revealed with a mitochondrial in vitro translation system. Nucleic Acids Res 37, 1616-1627.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. 1616-1627
-
-
Takemoto, C.1
Spremulli, L.L.2
Benkowski, L.A.3
Ueda, T.4
Yokogawa, T.5
Watanabe, K.6
-
99
-
-
0032510952
-
Mammalian mitochondrial methionyl-tRNA transformylase from bovine liver Purification, characterization, and gene structure.
-
Takeuchi, N., Kawakami, M., Omori, A., Ueda, T., Spremulli, L.L., and Watanabe, K. (1998). Mammalian mitochondrial methionyl-tRNA transformylase from bovine liver. Purification, characterization, and gene structure. J Biol Chem 273, 15085-15090.
-
(1998)
J Biol Chem
, vol.273
, pp. 15085-15090
-
-
Takeuchi, N.1
Kawakami, M.2
Omori, A.3
Ueda, T.4
Spremulli, L.L.5
Watanabe, K.6
-
100
-
-
0035135523
-
A candidate prostate cancer susceptibility gene at chromosome 17p
-
Tavtigian, S.V., Simard, J., Teng, D.H., Abtin, V., Baumgard, M., Beck, A., Camp, N.J., Carillo, A.R., Chen, Y., Dayananth, P., et al. (2001). A candidate prostate cancer susceptibility gene at chromosome 17p. Nat Genet 27, 172-180.
-
(2001)
Nat Genet
, vol.27
, pp. 172-180
-
-
Tavtigian, S.V.1
Simard, J.2
Teng, D.H.3
Abtin, V.4
Baumgard, M.5
Beck, A.6
Camp, N.J.7
Carillo, A.R.8
Chen, Y.9
Dayananth, P.10
-
101
-
-
0038607102
-
Decreased CCA addition in human mitochondrial tRNAs bearing a pathogenic A4317G or A10044G mutation
-
Tomari, Y., Hino, N., Nagaike, T., Suzuki, T., and Ueda, T. (2003). Decreased CCA addition in human mitochondrial tRNAs bearing a pathogenic A4317G or A10044G mutation. J Biol Chem 278, 16828-16833.
-
(2003)
J Biol Chem
, vol.278
, pp. 16828-16833
-
-
Tomari, Y.1
Hino, N.2
Nagaike, T.3
Suzuki, T.4
Ueda, T.5
-
102
-
-
80052780458
-
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation
-
Tucker, E.J., Hershman, S.G., Kohrer, C., Belcher-Timme, C.A., Patel, J., Goldberger, O.A., Christodoulou, J., Silberstein, J.M., McKenzie, M., Ryan, M.T., et al. (2011). Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell metabolism 14, 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
Christodoulou, J.7
Silberstein, J.M.8
McKenzie, M.9
Ryan, M.T.10
-
103
-
-
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.
-
Umeda, N., Suzuki, T., Yukawa, M., Ohya, Y., Shindo, H., and Watanabe, K. (2005). 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. J Biol Chem 280, 1613-1624.
-
(2005)
J Biol Chem
, vol.280
, pp. 1613-1624
-
-
Umeda, N.1
Suzuki, T.2
Yukawa, M.3
Ohya, Y.4
Shindo, H.5
Watanabe, K.6
-
104
-
-
0035801515
-
Improvement of reading frame maintenance is a common function for several tRNA modifications
-
Urbonavicius, J., Qian, Q., Durand, J.M., Hagervall, T.G., and Bjork, G.R. (2001). Improvement of reading frame maintenance is a common function for several tRNA modifications. EMBO J 20, 4863-4873.
-
(2001)
EMBO J
, vol.20
, pp. 4863-4873
-
-
Urbonavicius, J.1
Qian, Q.2
Durand, J.M.3
Hagervall, T.G.4
Bjork, G.R.5
-
105
-
-
80955139473
-
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease
-
Uusimaa, J., Jungbluth, H., Fratter, C., Crisponi, G., Feng, L., Zeviani, M., Hughes, I., Treacy, E.P., Birks, J., Brown, G.K., et al. (2011). Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. Journal of medical genetics 48, 660-668.
-
(2011)
Journal of medical genetics
, vol.48
, pp. 660-668
-
-
Uusimaa, J.1
Jungbluth, H.2
Fratter, C.3
Crisponi, G.4
Feng, L.5
Zeviani, M.6
Hughes, I.7
Treacy, E.P.8
Birks, J.9
Brown, G.K.10
-
106
-
-
84869051280
-
Mitochondrial disorders as windows into an ancient organelle
-
Vafai, S.B., and Mootha, V.K. (2012). Mitochondrial disorders as windows into an ancient organelle. Nature 491, 374-383.
-
(2012)
Nature
, vol.491
, pp. 374-383
-
-
Vafai, S.B.1
Mootha, V.K.2
-
107
-
-
84922055818
-
Two Siblings with Homozygous Pathogenic Splice Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (NARS2).
-
Vanlander, A.V., Menten, B., Smet, J., De Meirleir, L., Sante, T., De Paepe, B., Seneca, S., Pearce, S.F., Powell, C.A., Vergult, S., et al. (2014). Two Siblings with Homozygous Pathogenic Splice Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (NARS2). Human mutation.
-
(2014)
Human mutation.
-
-
Vanlander, A.V.1
Menten, B.2
Smet, J.3
De Meirleir, L.4
Sante, T.5
De Paepe, B.6
Seneca, S.7
Pearce, S.F.8
Powell, C.A.9
Vergult, S.10
-
108
-
-
84868456264
-
Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency
-
Vedrenne, V., Gowher, A., De Lonlay, P., Nitschke, P., Serre, V., Boddaert, N., Altuzarra, C., Mager-Heckel, A.M., Chretien, F., Entelis, N., et al. (2012). Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency. American journal of human genetics 91, 912-918.
-
(2012)
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
Altuzarra, C.7
Mager-Heckel, A.M.8
Chretien, F.9
Entelis, N.10
-
109
-
-
84871194226
-
A subcomplex of human mitochondrial RNase P is a bifunctional methyltransferase--extensive moonlighting in mitochondrial tRNA biogenesis
-
Vilardo, E., Nachbagauer, C., Buzet, A., Taschner, A., Holzmann, J., and Rossmanith, W. (2012). A subcomplex of human mitochondrial RNase P is a bifunctional methyltransferase--extensive moonlighting in mitochondrial tRNA biogenesis. Nucleic Acids Res 40, 11583-11593.
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 11583-11593
-
-
Vilardo, E.1
Nachbagauer, C.2
Buzet, A.3
Taschner, A.4
Holzmann, J.5
Rossmanith, W.6
-
110
-
-
84868504132
-
A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss
-
von Ameln, S., Wang, G., Boulouiz, R., Rutherford, M.A., Smith, G.M., Li, Y., Pogoda, H.M., Nurnberg, G., Stiller, B., Volk, A.E., et al. (2012). A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss. American journal of human genetics 91, 919-927.
-
(2012)
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
Pogoda, H.M.7
Nurnberg, G.8
Stiller, B.9
Volk, A.E.10
-
111
-
-
84880242478
-
Reconstitution and characterization of eukaryotic N6-threonylcarbamoylation of tRNA using a minimal enzyme system
-
Wan, L.C., Mao, D.Y., Neculai, D., Strecker, J., Chiovitti, D., Kurinov, I., Poda, G., Thevakumaran, N., Yuan, F., Szilard, R.K., et al. (2013). Reconstitution and characterization of eukaryotic N6-threonylcarbamoylation of tRNA using a minimal enzyme system. Nucleic Acids Res 41, 6332-6346.
-
(2013)
Nucleic Acids Res
, vol.41
, pp. 6332-6346
-
-
Wan, L.C.1
Mao, D.Y.2
Neculai, D.3
Strecker, J.4
Chiovitti, D.5
Kurinov, I.6
Poda, G.7
Thevakumaran, N.8
Yuan, F.9
Szilard, R.K.10
-
112
-
-
77955320529
-
PNPASE regulates RNA import into mitochondria
-
Wang, G., Chen, H.W., Oktay, Y., Zhang, J., Allen, E.L., Smith, G.M., Fan, K.C., Hong, J.S., French, S.W., McCaffery, J.M., et al. (2010). PNPASE regulates RNA import into mitochondria. Cell 142, 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
Fan, K.C.7
Hong, J.S.8
French, S.W.9
McCaffery, J.M.10
-
113
-
-
84880747693
-
Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling
-
Wessels, H.J., Vogel, R.O., Lightowlers, R.N., Spelbrink, J.N., Rodenburg, R.J., van den Heuvel, L.P., van Gool, A.J., Gloerich, J., Smeitink, J.A., and Nijtmans, L.G. (2013). Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling. PloS one 8, e68340.
-
(2013)
PloS one
, vol.8
-
-
Wessels, H.J.1
Vogel, R.O.2
Lightowlers, R.N.3
Spelbrink, J.N.4
Rodenburg, R.J.5
van den Heuvel, L.P.6
van Gool, A.J.7
Gloerich, J.8
Smeitink, J.A.9
Nijtmans, L.G.10
-
114
-
-
81055122667
-
tRNAs marked with CCACCA are targeted for degradation
-
Wilusz, J.E., Whipple, J.M., Phizicky, E.M., and Sharp, P.A. (2011). tRNAs marked with CCACCA are targeted for degradation. Science (New York, NY) 334, 817-821.
-
(2011)
Science (New York, NY)
, vol.334
, pp. 817-821
-
-
Wilusz, J.E.1
Whipple, J.M.2
Phizicky, E.M.3
Sharp, P.A.4
-
115
-
-
0036312082
-
Dimerization of a pathogenic human mitochondrial tRNA
-
Wittenhagen, L.M., and Kelley, S.O. (2002). Dimerization of a pathogenic human mitochondrial tRNA. Nature structural biology 9, 586-590.
-
(2002)
Nature structural biology
, vol.9
, pp. 586-590
-
-
Wittenhagen, L.M.1
Kelley, S.O.2
-
116
-
-
2342421220
-
The specificities of four yeast dihydrouridine synthases for cytoplasmic tRNAs
-
Xing, F., Hiley, S.L., Hughes, T.R., and Phizicky, E.M. (2004). The specificities of four yeast dihydrouridine synthases for cytoplasmic tRNAs. The Journal of biological chemistry 279, 17850-17860.
-
(2004)
The Journal of biological chemistry
, vol.279
, pp. 17850-17860
-
-
Xing, F.1
Hiley, S.L.2
Hughes, T.R.3
Phizicky, E.M.4
-
117
-
-
80054689158
-
Mitochondrial tRNA mutations and disease
-
Yarham, J.W., Elson, J.L., Blakely, E.L., McFarland, R., and Taylor, R.W. (2010). Mitochondrial tRNA mutations and disease. Wiley interdisciplinary reviews RNA 1, 304-324.
-
(2010)
Wiley interdisciplinary reviews RNA
, vol.1
, pp. 304-324
-
-
Yarham, J.W.1
Elson, J.L.2
Blakely, E.L.3
McFarland, R.4
Taylor, R.W.5
-
118
-
-
84903449243
-
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA
-
Yarham, J.W., Lamichhane, T.N., Pyle, A., Mattijssen, S., Baruffini, E., Bruni, F., Donnini, C., Vassilev, A., He, L., Blakely, E.L., et al. (2014). Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. PLoS genetics 10, e1004424.
-
(2014)
PLoS genetics
, vol.10
-
-
Yarham, J.W.1
Lamichhane, T.N.2
Pyle, A.3
Mattijssen, S.4
Baruffini, E.5
Bruni, F.6
Donnini, C.7
Vassilev, A.8
He, L.9
Blakely, E.L.10
-
119
-
-
0034635519
-
Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
-
Yasukawa, T., Suzuki, T., Ueda, T., Ohta, S., and Watanabe, K. (2000). Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. J Biol Chem 275, 4251-4257.
-
(2000)
J Biol Chem
, vol.275
, pp. 4251-4257
-
-
Yasukawa, T.1
Suzuki, T.2
Ueda, T.3
Ohta, S.4
Watanabe, K.5
-
120
-
-
21044441973
-
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene
-
Zeharia, A., Fischel-Ghodsian, N., Casas, K., Bykhocskaya, Y., Tamari, H., Lev, D., Mimouni, M., and Lerman-Sagie, T. (2005). Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. Journal of child neurology 20, 449-452.
-
(2005)
Journal of child neurology
, vol.20
, pp. 449-452
-
-
Zeharia, A.1
Fischel-Ghodsian, N.2
Casas, K.3
Bykhocskaya, Y.4
Tamari, H.5
Lev, D.6
Mimouni, M.7
Lerman-Sagie, T.8
-
121
-
-
69649100936
-
Acute infantile liver failure due to mutations in the TRMU gene
-
Zeharia, A., Shaag, A., Pappo, O., Mager-Heckel, A.M., Saada, A., Beinat, M., Karicheva, O., Mandel, H., Ofek, N., Segel, R., et al. (2009). Acute infantile liver failure due to mutations in the TRMU gene. American journal of human genetics 85, 401-407.
-
(2009)
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
Karicheva, O.7
Mandel, H.8
Ofek, N.9
Segel, R.10
-
122
-
-
4344573761
-
Regulation of nuclear receptor activity by a pseudouridine synthase through posttranscriptional modification of steroid receptor RNA activator
-
Zhao, X., Patton, J.R., Davis, S.L., Florence, B., Ames, S.J., and Spanjaard, R.A. (2004). Regulation of nuclear receptor activity by a pseudouridine synthase through posttranscriptional modification of steroid receptor RNA activator. Molecular cell 15, 549-558.
-
(2004)
Molecular cell
, vol.15
, pp. 549-558
-
-
Zhao, X.1
Patton, J.R.2
Davis, S.L.3
Florence, B.4
Ames, S.J.5
Spanjaard, R.A.6
-
123
-
-
0033667891
-
Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism
-
Zschocke, J., Ruiter, J.P., Brand, J., Lindner, M., Hoffmann, G.F., Wanders, R.J., and Mayatepek, E. (2000). Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatric research 48, 852-855.
-
(2000)
Pediatric research
, vol.48
, pp. 852-855
-
-
Zschocke, J.1
Ruiter, J.P.2
Brand, J.3
Lindner, M.4
Hoffmann, G.F.5
Wanders, R.J.6
Mayatepek, E.7
-
124
-
-
1542390747
-
The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1
-
Zucchini, C., Strippoli, P., Biolchi, A., Solmi, R., Lenzi, L., D'Addabbo, P., Carinci, P., and Valvassori, L. (2003). The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1. International journal of molecular medicine 11, 697-704.
-
(2003)
International journal of molecular medicine
, vol.11
, pp. 697-704
-
-
Zucchini, C.1
Strippoli, P.2
Biolchi, A.3
Solmi, R.4
Lenzi, L.5
D'Addabbo, P.6
Carinci, P.7
Valvassori, L.8
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