-
1
-
-
77954035632
-
Mitochondrial DNA depletion syndromes-many genes, common mechanisms
-
Suomalainen A., Isohanni P. Mitochondrial DNA depletion syndromes-many genes, common mechanisms. Neuromuscul. Disord. 2010, 20:429-437.
-
(2010)
Neuromuscul. Disord.
, vol.20
, pp. 429-437
-
-
Suomalainen, A.1
Isohanni, P.2
-
2
-
-
84855624646
-
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)
-
Poulton J., Hirano M., Spinazzola A., Arenas Hernandez M., Jardel C., Lombès A., Czermin B., Horvath R., Taanman J.W., Rotig A., Zeviani M., Fratter C. Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). Biochim. Biophys. Acta 2009, 1972:109-112.
-
(2009)
Biochim. Biophys. Acta
, vol.1972
, pp. 109-112
-
-
Poulton, J.1
Hirano, M.2
Spinazzola, A.3
Arenas Hernandez, M.4
Jardel, C.5
Lombès, A.6
Czermin, B.7
Horvath, R.8
Taanman, J.W.9
Rotig, A.10
Zeviani, M.11
Fratter, C.12
-
3
-
-
79952705301
-
-
R.A. Pagon, T.C. Bird, C.R. Dolan, K.Stephens [Eds.], GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 2009.
-
E.Ostergaard,in, R.A. Pagon, T.C. Bird, C.R. Dolan, K.Stephens [Eds.], GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2009.
-
(1993)
-
-
Ostergaard, E.1
-
4
-
-
0032538549
-
Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes
-
Johnson J.D., Mehus J.G., Tews K., Milavetz B.I., Lambeth D.O. Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes. J. Biol. Chem. 1998, 273:27580-27586.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 27580-27586
-
-
Johnson, J.D.1
Mehus, J.G.2
Tews, K.3
Milavetz, B.I.4
Lambeth, D.O.5
-
5
-
-
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., Saada A. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am. J. Hum. Genet. 2005, 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
-
6
-
-
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., Schwartz M. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 2007, 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
Schwartz, M.11
-
7
-
-
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., Bertin E., Franke B., Kluijtmans L.A., Meschini M.C., Rizzo C., Piemonte F., Rodenburg R., Santer R., Santorelli F.M., van Rooij A., Vermunt-de Koning D., Morava E., Wevers RA R. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 2007, 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
Bertin, E.7
Franke, B.8
Kluijtmans, L.A.9
Meschini, M.C.10
Rizzo, C.11
Piemonte, F.12
Rodenburg, R.13
Santer, R.14
Santorelli, F.M.15
van Rooij, A.16
Vermunt-de Koning, D.17
Morava, E.18
Wevers, R.A.R.19
-
8
-
-
77957772054
-
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein
-
Rouzier C., Le Guédard-Méreuze S., Fragaki K., Serre V., Miro J., Tuffery-Giraud S., Chaussenot A., Bannwarth S., Caruba C., Ostergaard E., Pellissier J.F., Richelme C., Espil C., Chabrol B., Paquis-Flucklinger V. The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. J. Med. Genet. 2010, 47:670-676.
-
(2010)
J. Med. Genet.
, vol.47
, pp. 670-676
-
-
Rouzier, C.1
Le Guédard-Méreuze, S.2
Fragaki, K.3
Serre, V.4
Miro, J.5
Tuffery-Giraud, S.6
Chaussenot, A.7
Bannwarth, S.8
Caruba, C.9
Ostergaard, E.10
Pellissier, J.F.11
Richelme, C.12
Espil, C.13
Chabrol, B.14
Paquis-Flucklinger, V.15
-
9
-
-
77949423537
-
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
-
Ostergaard E., Schwartz M., Batbayli M., Christensen E., Hjalmarson O., Kollberg G., Holme E. A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. Eur. J. Pediatr. 2010, 169:201-205.
-
(2010)
Eur. J. Pediatr.
, vol.169
, pp. 201-205
-
-
Ostergaard, E.1
Schwartz, M.2
Batbayli, M.3
Christensen, E.4
Hjalmarson, O.5
Kollberg, G.6
Holme, E.7
-
10
-
-
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., Chen H.Q. 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. 2002, 398:160-169.
-
(2002)
Arch. Biochem.Biophys.
, vol.398
, pp. 160-169
-
-
Kowluru, A.1
Tannous, M.2
Chen, H.Q.3
-
11
-
-
54449101307
-
The nucleoside diphosphate kinase D (NM23-H4) binds the inner mitochondrial membrane with high affinity to cardiolipin and couples nucleotide transfer with respiration
-
Tokarska-Schlattner M., Boissan M., Munier A., Borot C., Mailleau C., Speer O., Schlattner U., Lacombe L M.L. The nucleoside diphosphate kinase D (NM23-H4) binds the inner mitochondrial membrane with high affinity to cardiolipin and couples nucleotide transfer with respiration. J. Biol. Chem. 2008, 283:26198-26207.
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 26198-26207
-
-
Tokarska-Schlattner, M.1
Boissan, M.2
Munier, A.3
Borot, C.4
Mailleau, C.5
Speer, O.6
Schlattner, U.7
Lacombe L, M.L.8
-
12
-
-
67349166562
-
Interaction of NDPK-D with cardiolipin-containing membranes: structural basis and implications for mitochondrial physiology
-
Lacombe M.L., Tokarska-Schlattner M., Epand R.F., Boissan M., Epand R.M., Schlattner U. Interaction of NDPK-D with cardiolipin-containing membranes: structural basis and implications for mitochondrial physiology. Biochimie 2009, 91:779-783.
-
(2009)
Biochimie
, vol.91
, pp. 779-783
-
-
Lacombe, M.L.1
Tokarska-Schlattner, M.2
Epand, R.F.3
Boissan, M.4
Epand, R.M.5
Schlattner, U.6
-
13
-
-
0037971793
-
Quantification of total mitochondrial DNA and the 4977-bp common deletion in Pearson's syndrome lymphoblasts using a fluorogenic 5'-nuclease (TaqMan) real-time polymerase chain reaction assay and plasmid external calibration standards
-
Pogozelski W.K., Hamel C.J., Woeller C.F., Jackson W.E., Zullo S.J., Fischel-Godsian N., Blakely W.F. Quantification of total mitochondrial DNA and the 4977-bp common deletion in Pearson's syndrome lymphoblasts using a fluorogenic 5'-nuclease (TaqMan) real-time polymerase chain reaction assay and plasmid external calibration standards. Mitochondrion 2003, 2:415-427.
-
(2003)
Mitochondrion
, vol.2
, pp. 415-427
-
-
Pogozelski, W.K.1
Hamel, C.J.2
Woeller, C.F.3
Jackson, W.E.4
Zullo, S.J.5
Fischel-Godsian, N.6
Blakely, W.F.7
-
14
-
-
77951239770
-
The transgenic overexpression of alpha-synuclein and not its related pathology associates with complex I inhibition
-
Loeb V., Yakunin E., Saada A., Sharon R. The transgenic overexpression of alpha-synuclein and not its related pathology associates with complex I inhibition. J. Biol. Chem. 2010, 285:7334-7343.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 7334-7343
-
-
Loeb, V.1
Yakunin, E.2
Saada, A.3
Sharon, R.4
-
15
-
-
0242606204
-
Molecular characterization of thymidine kinase from Ureaplasma urealyticum: nucleoside analogues as potent inhibitors of Mycoplasma growth
-
Carnrot C., Wehelie R., Eriksson S., Bölske G., Wang L. Molecular characterization of thymidine kinase from Ureaplasma urealyticum: nucleoside analogues as potent inhibitors of Mycoplasma growth. Mol. Microbiol. 2003, 50:771-780.
-
(2003)
Mol. Microbiol.
, vol.50
, pp. 771-780
-
-
Carnrot, C.1
Wehelie, R.2
Eriksson, S.3
Bölske, G.4
Wang, L.5
-
16
-
-
50049121086
-
Mechanisms of substrate selectivity for Bacillus anthracis thymidylate kinase
-
Carnrot C., Wang L., Topalis D., Eriksson S. Mechanisms of substrate selectivity for Bacillus anthracis thymidylate kinase. Protein Sci. 2008, 17:1486-1493.
-
(2008)
Protein Sci.
, vol.17
, pp. 1486-1493
-
-
Carnrot, C.1
Wang, L.2
Topalis, D.3
Eriksson, S.4
-
17
-
-
34147174836
-
Biochemical assays for mitochondrial activity: assays of TCA cycle enzymes and PDHc
-
Reisch A.S., Elpeleg O. Biochemical assays for mitochondrial activity: assays of TCA cycle enzymes and PDHc. Methods Cell Biol. 2007, 80:199-222.
-
(2007)
Methods Cell Biol.
, vol.80
, pp. 199-222
-
-
Reisch, A.S.1
Elpeleg, O.2
-
18
-
-
4344718634
-
Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues
-
Lambeth D.O., Tews K.N., Adkins S., Frohlich D., Milavetz B.I. Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues. J. Biol. Chem. 2004, 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
-
19
-
-
70249105044
-
Fishing in the (deoxyribonucleotide) pool
-
Saada A. Fishing in the (deoxyribonucleotide) pool. Biochem. J. 2009, 422:e3-e6.
-
(2009)
Biochem. J.
, vol.422
-
-
Saada, A.1
|