-
1
-
-
48249149059
-
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance
-
Akman, H. O., Dorado, B., López, L. C., García-Cazorla, A., Vilà, M. R., Tanabe, L. M., Dauer, W. T., Bonilla, E., Tanji, K. and Hirano, M. (2008). Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. Hum. Mol. Genet. 17, 2433-2440.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 2433-2440
-
-
Akman, H.O.1
Dorado, B.2
López, L.C.3
García-Cazorla, A.4
Vilà, M.R.5
Tanabe, L.M.6
Dauer, W.T.7
Bonilla, E.8
Tanji, K.9
Hirano, M.10
-
2
-
-
2642539211
-
Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: A single-step approach
-
Bai, R. K. and Wong, L. J. (2004). Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach. Clin. Chem. 50, 996-1001.
-
(2004)
Clin. Chem.
, vol.50
, pp. 996-1001
-
-
Bai, R.K.1
Wong, L.J.2
-
4
-
-
33947165311
-
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
-
Carrozzo, R., Dionisi-Vici, C., Steuerwald, U., Lucioli, S., Deodato, F., Di Giandomenico, S., Bertini, E., Franke, B., Kluijtmans, L. A., Meschini, M. C. et al. (2007). SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 130, 862-874.
-
(2007)
Brain
, vol.130
, pp. 862-874
-
-
Carrozzo, R.1
Dionisi-Vici, C.2
Steuerwald, U.3
Lucioli, S.4
Deodato, F.5
Di Giandomenico, S.6
Bertini, E.7
Franke, B.8
Kluijtmans, L.A.9
Meschini, M.C.10
-
5
-
-
13244277441
-
Aconitase couples metabolic regulation to mitochondrial DNA maintenance
-
Chen, X. J., Wang, X., Kaufman, B. A. and Butow, R. A. (2005). Aconitase couples metabolic regulation to mitochondrial DNA maintenance. Science 307, 714-717.
-
(2005)
Science
, vol.307
, pp. 714-717
-
-
Chen, X.J.1
Wang, X.2
Kaufman, B.A.3
Butow, R.A.4
-
6
-
-
84860493395
-
The role of preterm placental calcification in high-risk pregnancy as a predictor of poor uteroplacental blood flow and adverse pregnancy outcome
-
Chen, K. H., Chen, L. R. and Lee, Y. H. (2012). The role of preterm placental calcification in high-risk pregnancy as a predictor of poor uteroplacental blood flow and adverse pregnancy outcome. Ultrasound Med. Biol. 38, 1011-1018.
-
(2012)
Ultrasound Med. Biol.
, vol.38
, pp. 1011-1018
-
-
Chen, K.H.1
Chen, L.R.2
Lee, Y.H.3
-
7
-
-
77950572316
-
Mouse embryonic stem (ES) cell culture
-
Conner D. A. (2001). Mouse embryonic stem (ES) cell culture. Curr. Protoc. Mol. Biol. 51, 23.3.1-23.3.6.
-
(2001)
Curr. Protoc. Mol. Biol.
, vol.51
, pp. 2331-2336
-
-
Conner, D.A.1
-
8
-
-
61449091466
-
Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects
-
De Paepe, B., Smet, J., Lammens, M., Seneca, S., Martin, J. J., De Bleecker, J., De Meirleir, L., Lissens, W. and Van Coster, R. (2009). Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects. J. Clin. Pathol. 62, 172-176.
-
(2009)
J. Clin. Pathol.
, vol.62
, pp. 172-176
-
-
De Paepe, B.1
Smet, J.2
Lammens, M.3
Seneca, S.4
Martin, J.J.5
De Bleecker, J.6
De Meirleir, L.7
Lissens, W.8
Van Coster, R.9
-
9
-
-
48349097445
-
Pathogenic mitochondrial DNA mutations are common in the general population
-
Elliott, H. R., Samuels, D. C., Eden, J. A., Relton, C. L. and Chinnery, P. F. (2008). Pathogenic mitochondrial DNA mutations are common in the general population. Am. J. Hum. Genet. 83, 254-260.
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 254-260
-
-
Elliott, H.R.1
Samuels, D.C.2
Eden, J.A.3
Relton, C.L.4
Chinnery, P.F.5
-
10
-
-
18944390365
-
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
-
Elpeleg, O., Miller, C., Hershkovitz, E., Bitner-Glindzicz, M., Bondi-Rubinstein, G., Rahman, S., Pagnamenta, A., Eshhar, S. and Saada, A. (2005). Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am. J. Hum. Genet. 76, 1081-1086.
-
(2005)
Am. J. Hum. Genet.
, vol.76
, pp. 1081-1086
-
-
Elpeleg, O.1
Miller, C.2
Hershkovitz, E.3
Bitner-Glindzicz, M.4
Bondi-Rubinstein, G.5
Rahman, S.6
Pagnamenta, A.7
Eshhar, S.8
Saada, A.9
-
11
-
-
0025992469
-
Promoter traps in embryonic stem cells: A genetic screen to identify and mutate developmental genes in mice
-
Friedrich, G. and Soriano, P. (1991). Promoter traps in embryonic stem cells: a genetic screen to identify and mutate developmental genes in mice. Genes Dev. 5, 1513-1523.
-
(1991)
Genes Dev.
, vol.5
, pp. 1513-1523
-
-
Friedrich, G.1
Soriano, P.2
-
12
-
-
79953735865
-
Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
-
González-Vioque, E., Torres-Torronteras, J., Andreu, A. L. and Martí, R. (2011). Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). PLoS Genet. 7, e1002035.
-
(2011)
PLoS Genet.
, vol.7
-
-
González-Vioque, E.1
Torres-Torronteras, J.2
Andreu, A.L.3
Martí, R.4
-
13
-
-
84856314886
-
Diagnostic challenges of mitochondrial disorders: Complexities of two genomes
-
Graham, B. H. (2012). Diagnostic challenges of mitochondrial disorders: complexities of two genomes. Methods Mol. Biol. 837, 35-46.
-
(2012)
Methods Mol. Biol.
, vol.837
, pp. 35-46
-
-
Graham, B.H.1
-
14
-
-
77951243014
-
Neurologic dysfunction and male infertility in Drosophila porin mutants: A new model for mitochondrial dysfunction and disease
-
Graham, B. H., Li, Z., Alesii, E. P., Versteken, P., Lee, C., Wang, J. and Craigen, W. J. (2010). Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and disease. J. Biol. Chem. 285, 11143-11153.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 11143-11153
-
-
Graham, B.H.1
Li, Z.2
Alesii, E.P.3
Versteken, P.4
Lee, C.5
Wang, J.6
Craigen, W.J.7
-
15
-
-
0031011211
-
A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator
-
Graham, B. H., Waymire, K. G., Cottrell, B., Trounce, I. A., MacGregor, G. R. and Wallace, D. C. (1997). A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Nat. Genet. 16, 226-234.
-
(1997)
Nat. Genet.
, vol.16
, pp. 226-234
-
-
Graham, B.H.1
Waymire, K.G.2
Cottrell, B.3
Trounce, I.A.4
Macgregor, G.R.5
Wallace, D.C.6
-
16
-
-
41949098832
-
The in-depth evaluation of suspected mitochondrial disease
-
Mitochondrial Medicine Society's Committee on Diagnosis
-
Haas, R. H., Parikh, S., Falk, M. J., Saneto, R. P., Wolf, N. I., Darin, N., Wong, L. J., Cohen, B. H., Naviaux, R. K.; Mitochondrial Medicine Society's Committee on Diagnosis (2008). The in-depth evaluation of suspected mitochondrial disease. Mol. Genet. Metab. 94, 16-37.
-
(2008)
Mol. Genet. Metab.
, vol.94
, pp. 16-37
-
-
Haas, R.H.1
Parikh, S.2
Falk, M.J.3
Saneto, R.P.4
Wolf, N.I.5
Darin, N.6
Wong, L.J.7
Cohen, B.H.8
Naviaux, R.K.9
-
17
-
-
26444432919
-
Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis
-
Hance, N., Ekstrand, M. I. and Trifunovic, A. (2005). Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis. Hum. Mol. Genet. 14, 1775-1783.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 1775-1783
-
-
Hance, N.1
Ekstrand, M.I.2
Trifunovic, A.3
-
18
-
-
0036291870
-
Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice
-
Haraguchi, M., Tsujimoto, H., Fukushima, M., Higuchi, I., Kuribayashi, H., Utsumi, H., Nakayama, A., Hashizume, Y., Hirato, J., Yoshida, H. et al. (2002). Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice. Mol. Cell. Biol. 22, 5212-5221.
-
(2002)
Mol. Cell. Biol.
, vol.22
, pp. 5212-5221
-
-
Haraguchi, M.1
Tsujimoto, H.2
Fukushima, M.3
Higuchi, I.4
Kuribayashi, H.5
Utsumi, H.6
Nakayama, A.7
Hashizume, Y.8
Hirato, J.9
Yoshida, H.10
-
19
-
-
0028246322
-
Characterization of nucleoside-diphosphate kinase from Pseudomonas aeruginosa: Complex formation with succinyl-CoA synthetase
-
Kavanaugh-Black, A., Connolly, D. M., Chugani, S. A. and Chakrabarty, A. M. (1994). Characterization of nucleoside-diphosphate kinase from Pseudomonas aeruginosa: complex formation with succinyl-CoA synthetase. Proc. Natl. Acad. Sci. USA 91, 5883-5887.
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 5883-5887
-
-
Kavanaugh-Black, A.1
Connolly, D.M.2
Chugani, S.A.3
Chakrabarty, A.M.4
-
20
-
-
33947592820
-
Mitochondrial GTP regulates glucose-stimulated insulin secretion
-
Kibbey, R. G., Pongratz, R. L., Romanelli, A. J., Wollheim, C. B., Cline, G. W. and Shulman, G. I. (2007). Mitochondrial GTP regulates glucose-stimulated insulin secretion. Cell Metab. 5, 253-264.
-
(2007)
Cell Metab.
, vol.5
, pp. 253-264
-
-
Kibbey, R.G.1
Pongratz, R.L.2
Romanelli, A.J.3
Wollheim, C.B.4
Cline, G.W.5
Shulman, G.I.6
-
21
-
-
0042166135
-
Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools
-
Kimura, T., Takeda, S., Sagiya, Y., Gotoh, M., Nakamura, Y. and Arakawa, H. (2003). Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools. Nat. Genet. 34, 440-445.
-
(2003)
Nat. Genet.
, vol.34
, pp. 440-445
-
-
Kimura, T.1
Takeda, S.2
Sagiya, Y.3
Gotoh, M.4
Nakamura, Y.5
Arakawa, H.6
-
22
-
-
0037085235
-
Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic beta cell: Evidence for its complexation with mitochondrial succinyl-CoA synthetase
-
Kowluru, A., Tannous, M. and Chen, H. Q. (2002). Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic beta cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase. Arch. Biochem. Biophys. 398, 160-169.
-
(2002)
Arch. Biochem. Biophys.
, vol.398
, pp. 160-169
-
-
Kowluru, A.1
Tannous, M.2
Chen, H.Q.3
-
23
-
-
0034781986
-
Analysis of dicarboxylic acids by tandem mass spectrometry. Highthroughput quantitative measurement of methylmalonic acid in serum, plasma, and urine
-
Kushnir, M. M., Komaromy-Hiller, G., Shushan, B., Urry, F. M. and Roberts, W. L. (2001). Analysis of dicarboxylic acids by tandem mass spectrometry. Highthroughput quantitative measurement of methylmalonic acid in serum, plasma, and urine. Clin. Chem. 47, 1993-2002.
-
(2001)
Clin. Chem.
, vol.47
, pp. 1993-2002
-
-
Kushnir, M.M.1
Komaromy-Hiller, G.2
Shushan, B.3
Urry, F.M.4
Roberts, W.L.5
-
24
-
-
4344718634
-
Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues
-
Lambeth, D. O., Tews, K. N., Adkins, S., Frohlich, D. and Milavetz, B. I. (2004). Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues. J. Biol. Chem. 279, 36621-36624.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 36621-36624
-
-
Lambeth, D.O.1
Tews, K.N.2
Adkins, S.3
Frohlich, D.4
Milavetz, B.I.5
-
25
-
-
0028030681
-
Placental structure: In a comparative aspect
-
Leiser, R. and Kaufmann, P. (1994). Placental structure: in a comparative aspect. Exp. Clin. Endocrinol. 102, 122-134.
-
(1994)
Exp. Clin. Endocrinol.
, vol.102
, pp. 122-134
-
-
Leiser, R.1
Kaufmann, P.2
-
26
-
-
58949094557
-
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
-
López, L. C., Akman, H. O., García-Cazorla, A., Dorado, B., Martí, R., Nishino, I., Tadesse, S., Pizzorno, G., Shungu, D., Bonilla, E. et al. (2009). Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. Hum. Mol. Genet. 18, 714-722.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 714-722
-
-
López, L.C.1
Akman, H.O.2
García-Cazorla, A.3
Dorado, B.4
Martí, R.5
Nishino, I.6
Tadesse, S.7
Pizzorno, G.8
Shungu, D.9
Bonilla, E.10
-
27
-
-
0347287033
-
A comparison of placental development and endocrine functions between the human and mouse model
-
Malassiné, A., Frendo, J. L. and Evain-Brion, D. (2003). A comparison of placental development and endocrine functions between the human and mouse model. Hum. Reprod. Update 9, 531-539.
-
(2003)
Hum. Reprod. Update
, vol.9
, pp. 531-539
-
-
Malassiné, A.1
Frendo, J.L.2
Evain-Brion, D.3
-
28
-
-
41149170634
-
Over-expression of the catalytic core of mitochondrial DNA (mtDNA) polymerase in the nervous system of Drosophila melanogaster reduces median life span by inducing mtDNA depletion
-
Martínez-Azorín, F., Calleja, M., Hernández-Sierra, R., Farr, C. L., Kaguni, L. S. and Garesse, R. (2008). Over-expression of the catalytic core of mitochondrial DNA (mtDNA) polymerase in the nervous system of Drosophila melanogaster reduces median life span by inducing mtDNA depletion. J. Neurochem. 105, 165-176.
-
(2008)
J. Neurochem.
, vol.105
, pp. 165-176
-
-
Martínez-Azorín, F.1
Calleja, M.2
Hernández-Sierra, R.3
Farr, C.L.4
Kaguni, L.S.5
Garesse, R.6
-
29
-
-
4043066308
-
Flow cytometric analysis of isolated liver mitochondria to detect changes relevant to cell death
-
Mattiasson, G. (2004). Flow cytometric analysis of isolated liver mitochondria to detect changes relevant to cell death. Cytometry 60A, 145-154.
-
(2004)
Cytometry
, vol.60 A
, pp. 145-154
-
-
Mattiasson, G.1
-
30
-
-
79952303452
-
The pINDUCER lentiviral toolkit for inducible RNA interference in vitro and in vivo
-
Meerbrey, K. L., Hu, G., Kessler, J. D., Roarty, K., Li, M. Z., Fang, J. E., Herschkowitz, J. I., Burrows, A. E., Ciccia, A., Sun, T. et al. (2011). The pINDUCER lentiviral toolkit for inducible RNA interference in vitro and in vivo. Proc. Natl. Acad. Sci. USA 108, 3665-3670.
-
(2011)
Proc. Natl. Acad. Sci. USA
, vol.108
, pp. 3665-3670
-
-
Meerbrey, K.L.1
Hu, G.2
Kessler, J.D.3
Roarty, K.4
Li, M.Z.5
Fang, J.E.6
Herschkowitz, J.I.7
Burrows, A.E.8
Ciccia, A.9
Sun, T.10
-
31
-
-
79952701718
-
The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion
-
Miller, C., Wang, L., Ostergaard, E., Dan, P. and Saada, A. (2011). The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion. Biochim. Biophys. Acta 1812, 625-629.
-
(2011)
Biochim. Biophys. Acta.
, vol.1812
, pp. 625-629
-
-
Miller, C.1
Wang, L.2
Ostergaard, E.3
Dan, P.4
Saada, A.5
-
32
-
-
84858376953
-
Mitochondria: In sickness and in health
-
Nunnari, J. and Suomalainen, A. (2012). Mitochondria: in sickness and in health. Cell 148, 1145-1159.
-
(2012)
Cell
, vol.148
, pp. 1145-1159
-
-
Nunnari, J.1
Suomalainen, A.2
-
33
-
-
34547736513
-
Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion
-
Ostergaard, E., Christensen, E., Kristensen, E., Mogensen, B., Duno, M., Shoubridge, E. A. and Wibrand, F. (2007a). Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am. J. Hum. Genet. 81, 383-387.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 383-387
-
-
Ostergaard, E.1
Christensen, E.2
Kristensen, E.3
Mogensen, B.4
Duno, M.5
Shoubridge, E.A.6
Wibrand, F.7
-
34
-
-
33947145697
-
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations
-
Ostergaard, E., Hansen, F. J., Sorensen, N., Duno, M., Vissing, J., Larsen, P. L., Faeroe, O., Thorgrimsson, S., Wibrand, F., Christensen, E. et al. (2007b). Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 130, 853-861.
-
(2007)
Brain
, vol.130
, pp. 853-861
-
-
Ostergaard, E.1
Hansen, F.J.2
Sorensen, N.3
Duno, M.4
Vissing, J.5
Larsen, P.L.6
Faeroe, O.7
Thorgrimsson, S.8
Wibrand, F.9
Christensen, E.10
-
35
-
-
0347362790
-
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality
-
Peters, H., Nefedov, M., Sarsero, J., Pitt, J., Fowler, K. J., Gazeas, S., Kahler, S. G. and Ioannou, P. A. (2003). A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality. J. Biol. Chem. 278, 52909-52913.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 52909-52913
-
-
Peters, H.1
Nefedov, M.2
Sarsero, J.3
Pitt, J.4
Fowler, K.J.5
Gazeas, S.6
Kahler, S.G.7
Ioannou, P.A.8
-
36
-
-
0034915867
-
Placental calcification: A metastatic process?
-
Poggi, S. H., Bostrom, K. I., Demer, L. L., Skinner, H. C. and Koos, B. J. (2001). Placental calcification: a metastatic process? Placenta 22, 591-596.
-
(2001)
Placenta
, vol.22
, pp. 591-596
-
-
Poggi, S.H.1
Bostrom, K.I.2
Demer, L.L.3
Skinner, H.C.4
Koos, B.J.5
-
37
-
-
9644274004
-
The epidemiology of mitochondrial disorders-past, present and future
-
Schaefer, A. M., Taylor, R. W., Turnbull, D. M. and Chinnery, P. F. (2004). The epidemiology of mitochondrial disorders-past, present and future. Biochim. Biophys. Acta 1659, 115-120.
-
(2004)
Biochim. Biophys. Acta
, vol.1659
, pp. 115-120
-
-
Schaefer, A.M.1
Taylor, R.W.2
Turnbull, D.M.3
Chinnery, P.F.4
-
38
-
-
39049156470
-
Prevalence of mitochondrial DNA disease in adults
-
Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F. and Turnbull, D. M. (2008). Prevalence of mitochondrial DNA disease in adults. Ann. Neurol. 63, 35-39.
-
(2008)
Ann. Neurol.
, vol.63
, pp. 35-39
-
-
Schaefer, A.M.1
McFarland, R.2
Blakely, E.L.3
He, L.4
Whittaker, R.G.5
Taylor, R.W.6
Chinnery, P.F.7
Turnbull, D.M.8
-
39
-
-
33645459367
-
Analysis of methylmalonic acid in plasma by liquid chromatography-tandem mass spectrometry
-
Schmedes, A. and Brandslund, I. (2006). Analysis of methylmalonic acid in plasma by liquid chromatography-tandem mass spectrometry. Clin. Chem. 52, 754-757.
-
(2006)
Clin. Chem.
, vol.52
, pp. 754-757
-
-
Schmedes, A.1
Brandslund, I.2
-
40
-
-
0029886751
-
Differentiation of trophoblast endocrine cells
-
Soares, M. J., Chapman, B. M., Rasmussen, C. A., Dai, G., Kamei, T. and Orwig, K. E. (1996). Differentiation of trophoblast endocrine cells. Placenta 17, 277-289.
-
(1996)
Placenta
, vol.17
, pp. 277-289
-
-
Soares, M.J.1
Chapman, B.M.2
Rasmussen, C.A.3
Dai, G.4
Kamei, T.5
Orwig, K.E.6
-
41
-
-
77954035632
-
Mitochondrial DNA depletion syndromes - Many genes, common mechanisms
-
Suomalainen, A. and Isohanni, P. (2010). Mitochondrial DNA depletion syndromes - many genes, common mechanisms. Neuromuscul. Disord. 20, 429-437.
-
(2010)
Neuromuscul. Disord.
, vol.20
, pp. 429-437
-
-
Suomalainen, A.1
Isohanni, P.2
-
42
-
-
29144486726
-
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
-
Tyynismaa, H., Mjosund, K. P., Wanrooij, S., Lappalainen, I., Ylikallio, E., Jalanko, A., Spelbrink, J. N., Paetau, A. and Suomalainen, A. (2005). Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. Proc. Natl. Acad. Sci. USA 102, 17687-17692.
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 17687-17692
-
-
Tyynismaa, H.1
Mjosund, K.P.2
Wanrooij, S.3
Lappalainen, I.4
Ylikallio, E.5
Jalanko, A.6
Spelbrink, J.N.7
Paetau, A.8
Suomalainen, A.9
-
43
-
-
57649181749
-
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice
-
Viscomi, C., Spinazzola, A., Maggioni, M., Fernandez-Vizarra, E., Massa, V., Pagano, C., Vettor, R., Mora, M. and Zeviani, M. (2009). Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. Hum. Mol. Genet. 18, 12-26.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 12-26
-
-
Viscomi, C.1
Spinazzola, A.2
Maggioni, M.3
Fernandez-Vizarra, E.4
Massa, V.5
Pagano, C.6
Vettor, R.7
Mora, M.8
Zeviani, M.9
-
44
-
-
0031748836
-
Compensation for a gene trap mutation in the murine microtubule- associated protein 4 locus by alternative polyadenylation and alternative splicing
-
Voss, A. K., Thomas, T. and Gruss, P. (1998). Compensation for a gene trap mutation in the murine microtubule-associated protein 4 locus by alternative polyadenylation and alternative splicing. Dev. Dyn. 212, 258-266.
-
(1998)
Dev. Dyn.
, vol.212
, pp. 258-266
-
-
Voss, A.K.1
Thomas, T.2
Gruss, P.3
-
45
-
-
84873524132
-
Differential expression of calcium transport channels in placenta primary cells and tissues derived from preeclamptic placenta
-
Yang, H., Kim, T. H., An, B. S., Choi, K. C., Lee, H. H., Kim, J. M. and Jeung, E. B. (2013). Differential expression of calcium transport channels in placenta primary cells and tissues derived from preeclamptic placenta. Mol. Cell. Endocrinol. 367, 21-30.
-
(2013)
Mol. Cell. Endocrinol.
, vol.367
, pp. 21-30
-
-
Yang, H.1
Kim, T.H.2
An, B.S.3
Choi, K.C.4
Lee, H.H.5
Kim, J.M.6
Jeung, E.B.7
-
46
-
-
77954851049
-
Wnt signaling regulates mitochondrial physiology and insulin sensitivity
-
Yoon, J. C., Ng, A., Kim, B. H., Bianco, A., Xavier, R. J. and Elledge, S. J. (2010). Wnt signaling regulates mitochondrial physiology and insulin sensitivity. Genes Dev. 24, 1507-1518.
-
(2010)
Genes Dev.
, vol.24
, pp. 1507-1518
-
-
Yoon, J.C.1
Ng, A.2
Kim, B.H.3
Bianco, A.4
Xavier, R.J.5
Elledge, S.J.6
|