-
1
-
-
84870281311
-
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
-
Alston, C.L., Davison, J.E., Meloni, F., van der Westhuizen, F.H., He, L., Hornig-do, H.T., Peet, A.C., Gissen, P., Goffrini, P., Ferrero, I., Wassmer, E., McFarland, R., Taylor, R.W., Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. J. Med. Genet. 49 (2012), 569–577.
-
(2012)
J. Med. Genet.
, vol.49
, pp. 569-577
-
-
Alston, C.L.1
Davison, J.E.2
Meloni, F.3
van der Westhuizen, F.H.4
He, L.5
Hornig-do, H.T.6
Peet, A.C.7
Gissen, P.8
Goffrini, P.9
Ferrero, I.10
Wassmer, E.11
McFarland, R.12
Taylor, R.W.13
-
2
-
-
84863244462
-
Fumarate is cardioprotective via activation of the Nrf2 antioxidant pathway
-
Ashrafian, H., Czibik, G., Bellahcene, M., Aksentijevic, D., Smith, A.C., Mitchell, S.J., Dodd, M.S., Kirwan, J., Byrne, J.J., Ludwig, C., Isackson, H., Yavari, A., Stottrup, N.B., Contractor, H., Cahill, T.J., Sahgal, N., Ball, D.R., Birkler, R.I., Hargreaves, I., Tennant, D.A., Land, J., Lygate, C.A., Johannsen, M., Kharbanda, R.K., Neubauer, S., Redwood, C., De Cabo, R., Ahmet, I., Talan, M., Gunther, U.L., Robinson, A.J., Viant, M.R., Pollard, P.J., Tyler, D.J., Watkins, H., Fumarate is cardioprotective via activation of the Nrf2 antioxidant pathway. Cell Metab. 15 (2012), 361–371.
-
(2012)
Cell Metab.
, vol.15
, pp. 361-371
-
-
Ashrafian, H.1
Czibik, G.2
Bellahcene, M.3
Aksentijevic, D.4
Smith, A.C.5
Mitchell, S.J.6
Dodd, M.S.7
Kirwan, J.8
Byrne, J.J.9
Ludwig, C.10
Isackson, H.11
Yavari, A.12
Stottrup, N.B.13
Contractor, H.14
Cahill, T.J.15
Sahgal, N.16
Ball, D.R.17
Birkler, R.I.18
Hargreaves, I.19
Tennant, D.A.20
Land, J.21
Lygate, C.A.22
Johannsen, M.23
Kharbanda, R.K.24
Neubauer, S.25
Redwood, C.26
De Cabo, R.27
Ahmet, I.28
Talan, M.29
Gunther, U.L.30
Robinson, A.J.31
Viant, M.R.32
Pollard, P.J.33
Tyler, D.J.34
Watkins, H.35
more..
-
3
-
-
34347258175
-
Quantitative prediction of cellular metabolism with constraint-based models: the COBRA Toolbox
-
Becker, S.A., Feist, A.M., MO, M.L., Hannum, G., Palsson, B.O., Herrgard, M.J., Quantitative prediction of cellular metabolism with constraint-based models: the COBRA Toolbox. Nat. Protoc. 2 (2007), 727–738.
-
(2007)
Nat. Protoc.
, vol.2
, pp. 727-738
-
-
Becker, S.A.1
Feist, A.M.2
MO, M.L.3
Hannum, G.4
Palsson, B.O.5
Herrgard, M.J.6
-
4
-
-
33644816856
-
Retrospective, multicentric study of 180 children with cytochrome c oxidase deficiency
-
Bohm, M., Pronicka, E., Karczmarewicz, E., Pronicki, M., Piekutowska-Abramczuk, D., Sykut-Cegielska, J., Mierzewska, H., Hansikova, H., Vesela, K., Tesarova, M., Houstkova, H., Houstek, J., Zeman, J., Retrospective, multicentric study of 180 children with cytochrome c oxidase deficiency. Pediatr. Res. 59 (2006), 21–26.
-
(2006)
Pediatr. Res.
, vol.59
, pp. 21-26
-
-
Bohm, M.1
Pronicka, E.2
Karczmarewicz, E.3
Pronicki, M.4
Piekutowska-Abramczuk, D.5
Sykut-Cegielska, J.6
Mierzewska, H.7
Hansikova, H.8
Vesela, K.9
Tesarova, M.10
Houstkova, H.11
Houstek, J.12
Zeman, J.13
-
5
-
-
84880203578
-
Ammonia toxicity to the brain
-
Braissant, O., McLin, V.A., Cudalbu, C., Ammonia toxicity to the brain. J. Inherit. Metab. Dis. 36 (2013), 595–612.
-
(2013)
J. Inherit. Metab. Dis.
, vol.36
, pp. 595-612
-
-
Braissant, O.1
McLin, V.A.2
Cudalbu, C.3
-
6
-
-
27144440549
-
Succinate dehydrogenase deficiency in human
-
Briere, J.J., Favier, J., El Ghouzzi, V., Djouadi, F., Benit, P., Gimenez, A.P., Rustin, P., Succinate dehydrogenase deficiency in human. Cell. Mol. Life Sci. 62 (2005), 2317–2324.
-
(2005)
Cell. Mol. Life Sci.
, vol.62
, pp. 2317-2324
-
-
Briere, J.J.1
Favier, J.2
El Ghouzzi, V.3
Djouadi, F.4
Benit, P.5
Gimenez, A.P.6
Rustin, P.7
-
7
-
-
0036289426
-
Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency. Ann. Neurol
-
Brockmann, K., Bjornstad, A., Dechent, P., Korenke, C.G., Smeitink, J., Trijbels, J.M., Athanassopoulos, S., Villagran, R., Skjeldal, O.H., Wilichowski, E., Frahm, J., Hanefeld, F., Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency. Ann. Neurol., 52, 2002, 38–46.
-
(2002)
, vol.52
, pp. 38-46
-
-
Brockmann, K.1
Bjornstad, A.2
Dechent, P.3
Korenke, C.G.4
Smeitink, J.5
Trijbels, J.M.6
Athanassopoulos, S.7
Villagran, R.8
Skjeldal, O.H.9
Wilichowski, E.10
Frahm, J.11
Hanefeld, F.12
-
8
-
-
9644275464
-
Clinical and molecular findings in children with complex I deficiency
-
Bugiani, M., Invernizzi, F., Alberio, S., Briem, E., Lamantea, E., Carrara, F., Moroni, I., Farina, L., Spada, M., Donati, M.A., Uziel, G., Zeviani, M., Clinical and molecular findings in children with complex I deficiency. Biochim. Biophys. Acta 1659 (2004), 136–147.
-
(2004)
Biochim. Biophys. Acta
, vol.1659
, pp. 136-147
-
-
Bugiani, M.1
Invernizzi, F.2
Alberio, S.3
Briem, E.4
Lamantea, E.5
Carrara, F.6
Moroni, I.7
Farina, L.8
Spada, M.9
Donati, M.A.10
Uziel, G.11
Zeviani, M.12
-
9
-
-
0027056128
-
Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome
-
Burgeois, M., Goutieres, F., Chretien, D., Rustin, P., Munnich, A., Aicardi, J., Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome. Brain and Development 14 (1992), 404–408.
-
(1992)
Brain and Development
, vol.14
, pp. 404-408
-
-
Burgeois, M.1
Goutieres, F.2
Chretien, D.3
Rustin, P.4
Munnich, A.5
Aicardi, J.6
-
10
-
-
84941103395
-
BRENDA in 2015: exciting developments in its 25th year of existence
-
Chang, A., Schomburg, I., Placzek, S., Jeske, L., Ulbrich, M., Xiao, M., Sensen, C.W., Schomburg, D., BRENDA in 2015: exciting developments in its 25th year of existence. Nucleic Acids Res. 43 (2015), D439–D446.
-
(2015)
Nucleic Acids Res.
, vol.43
, pp. D439-D446
-
-
Chang, A.1
Schomburg, I.2
Placzek, S.3
Jeske, L.4
Ulbrich, M.5
Xiao, M.6
Sensen, C.W.7
Schomburg, D.8
-
11
-
-
84865193829
-
Treatment for mitochondrial disorders
-
CD004426
-
Chinnery, P., Majamaa, K., Turnbull, D., Thorburn, D., Treatment for mitochondrial disorders. Cochrane Database Syst. Rev., 1, 2006, CD004426.
-
(2006)
Cochrane Database Syst. Rev.
, vol.1
-
-
Chinnery, P.1
Majamaa, K.2
Turnbull, D.3
Thorburn, D.4
-
12
-
-
84911466192
-
Ischaemic accumulation of succinate controls reperfusion injury through mitochondrial ROS
-
Chouchani, E.T., Pell, V.R., Gaude, E., Aksentijevic, D., Sundier, S.Y., Robb, E.L., Logan, A., Nadtochiy, S.M., Ord, E.N., Smith, A.C., Eyassu, F., Shirley, R., Hu, C.H., Dare, A.J., James, A.M., Rogatti, S., Hartley, R.C., Eaton, S., Costa, A.S., Brookes, P.S., Davidson, S.M., Duchen, M.R., Saeb-Parsy, K., Shattock, M.J., Robinson, A.J., Work, L.M., Frezza, C., Krieg, T., Murphy, M.P., Ischaemic accumulation of succinate controls reperfusion injury through mitochondrial ROS. Nature 515 (2014), 431–435.
-
(2014)
Nature
, vol.515
, pp. 431-435
-
-
Chouchani, E.T.1
Pell, V.R.2
Gaude, E.3
Aksentijevic, D.4
Sundier, S.Y.5
Robb, E.L.6
Logan, A.7
Nadtochiy, S.M.8
Ord, E.N.9
Smith, A.C.10
Eyassu, F.11
Shirley, R.12
Hu, C.H.13
Dare, A.J.14
James, A.M.15
Rogatti, S.16
Hartley, R.C.17
Eaton, S.18
Costa, A.S.19
Brookes, P.S.20
Davidson, S.M.21
Duchen, M.R.22
Saeb-Parsy, K.23
Shattock, M.J.24
Robinson, A.J.25
Work, L.M.26
Frezza, C.27
Krieg, T.28
Murphy, M.P.29
more..
-
13
-
-
17944381521
-
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure
-
de Lonlay, P., Valnot, I., Barrientos, A., Gorbatyuk, M., Tzagoloff, A., Taanman, J.W., Benayoun, E., Chretien, D., Kadhom, N., Lombes, A., De Baulny, H.O., Niaudet, P., Munnich, A., Rustin, P., Rotig, A., A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat. Genet. 29 (2001), 57–60.
-
(2001)
Nat. Genet.
, vol.29
, pp. 57-60
-
-
de Lonlay, P.1
Valnot, I.2
Barrientos, A.3
Gorbatyuk, M.4
Tzagoloff, A.5
Taanman, J.W.6
Benayoun, E.7
Chretien, D.8
Kadhom, N.9
Lombes, A.10
De Baulny, H.O.11
Niaudet, P.12
Munnich, A.13
Rustin, P.14
Rotig, A.15
-
14
-
-
0030820842
-
New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency
-
Dionisi-Vici, C., Ruitenbeek, W., Fariello, G., Bentlage, H., Wanders, R.J., Schagger, H., Bosman, C., Piantadosi, C., Sabetta, G., Bertini, E., New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency. Ann. Neurol. 42 (1997), 661–665.
-
(1997)
Ann. Neurol.
, vol.42
, pp. 661-665
-
-
Dionisi-Vici, C.1
Ruitenbeek, W.2
Fariello, G.3
Bentlage, H.4
Wanders, R.J.5
Schagger, H.6
Bosman, C.7
Piantadosi, C.8
Sabetta, G.9
Bertini, E.10
-
15
-
-
84873028506
-
Amino acids as metabolic substrates during cardiac ischemia
-
Drake, K.J., Sidorov, V.Y., McGuinness, O.P., Wasserman, D.H., Wikswo, J.P., Amino acids as metabolic substrates during cardiac ischemia. Exp Biol Med (Maywood) 237 (2012), 1369–1378.
-
(2012)
Exp Biol Med (Maywood)
, vol.237
, pp. 1369-1378
-
-
Drake, K.J.1
Sidorov, V.Y.2
McGuinness, O.P.3
Wasserman, D.H.4
Wikswo, J.P.5
-
16
-
-
25444504269
-
Secondary metabolic effects in complex I deficiency
-
Esteitie, N., Hinttala, R., Wibom, R., Nilsson, H., Hance, N., Naess, K., Teär-Fahnehjelm, K., von Döbeln, U., Majamaa, K., Larsson, N.G., Secondary metabolic effects in complex I deficiency. Ann. Neurol. 58 (2005), 544–552.
-
(2005)
Ann. Neurol.
, vol.58
, pp. 544-552
-
-
Esteitie, N.1
Hinttala, R.2
Wibom, R.3
Nilsson, H.4
Hance, N.5
Naess, K.6
Teär-Fahnehjelm, K.7
von Döbeln, U.8
Majamaa, K.9
Larsson, N.G.10
-
17
-
-
40849113097
-
Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans
-
Falk, M.J., Zhang, Z., Rosenjack, J.R., Nissim, I., Daikhin, E., Nissim, I., Sedensky, M.M., Yudkoff, M., Morgan, P.G., Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans. Mol. Genet. Metab. 93 (2008), 388–397.
-
(2008)
Mol. Genet. Metab.
, vol.93
, pp. 388-397
-
-
Falk, M.J.1
Zhang, Z.2
Rosenjack, J.R.3
Nissim, I.4
Daikhin, E.5
Nissim, I.6
Sedensky, M.M.7
Yudkoff, M.8
Morgan, P.G.9
-
18
-
-
84902332213
-
Quantitative flux analysis reveals folate-dependent NADPH production
-
Fan, J., Ye, J., Kamphorst, J.J., Shlomi, T., Thompson, C.B., Rabinowitz, J.D., Quantitative flux analysis reveals folate-dependent NADPH production. Nature 510 (2014), 298–302.
-
(2014)
Nature
, vol.510
, pp. 298-302
-
-
Fan, J.1
Ye, J.2
Kamphorst, J.J.3
Shlomi, T.4
Thompson, C.B.5
Rabinowitz, J.D.6
-
19
-
-
79952187160
-
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies
-
Ghezzi, D., Arzuffi, P., Zordan, M., Da Re, C., Lamperti, C., Benna, C., D'Adamo, P., Diodato, D., Costa, R., Mariotti, C., Uziel, G., Smiderle, C., Zeviani, M., Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat. Genet. 43 (2011), 259–263.
-
(2011)
Nat. Genet.
, vol.43
, pp. 259-263
-
-
Ghezzi, D.1
Arzuffi, P.2
Zordan, M.3
Da Re, C.4
Lamperti, C.5
Benna, C.6
D'Adamo, P.7
Diodato, D.8
Costa, R.9
Mariotti, C.10
Uziel, G.11
Smiderle, C.12
Zeviani, M.13
-
20
-
-
0025951154
-
Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect
-
Haller, R.G., Henriksson, K.G., Jorfeldt, L., Hultman, E., Wibom, R., Sahlin, K., Areskog, N.H., Gunder, M., Ayyad, K., Blomqvist, C.G., et al. Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect. J Clin Invest 88 (1991), 1197–1206.
-
(1991)
J Clin Invest
, vol.88
, pp. 1197-1206
-
-
Haller, R.G.1
Henriksson, K.G.2
Jorfeldt, L.3
Hultman, E.4
Wibom, R.5
Sahlin, K.6
Areskog, N.H.7
Gunder, M.8
Ayyad, K.9
Blomqvist, C.G.10
-
21
-
-
0037897337
-
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis
-
Haut, S., Brivet, M., Touati, G., Rustin, P., Lebon, S., Garcia-Cazorla, A., Saudubray, J.M., Boutron, A., Legrand, A., Slama, A., A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. Hum. Genet. 113 (2003), 118–122.
-
(2003)
Hum. Genet.
, vol.113
, pp. 118-122
-
-
Haut, S.1
Brivet, M.2
Touati, G.3
Rustin, P.4
Lebon, S.5
Garcia-Cazorla, A.6
Saudubray, J.M.7
Boutron, A.8
Legrand, A.9
Slama, A.10
-
22
-
-
79955456000
-
Branched-chain amino acid metabolism in heart disease: an epiphenomenon or a real culprit?
-
Huang, Y., Zhou, M., Sun, H., Wang, Y., Branched-chain amino acid metabolism in heart disease: an epiphenomenon or a real culprit?. Cardiovasc. Res. 90 (2011), 220–223.
-
(2011)
Cardiovasc. Res.
, vol.90
, pp. 220-223
-
-
Huang, Y.1
Zhou, M.2
Sun, H.3
Wang, Y.4
-
23
-
-
84894412950
-
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency
-
Jackson, C.B., Nuoffer, J.M., Hahn, D., Prokisch, H., Haberberger, B., Gautschi, M., Haberli, A., Gallati, S., Schaller, A., Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. J. Med. Genet. 51 (2014), 170–175.
-
(2014)
J. Med. Genet.
, vol.51
, pp. 170-175
-
-
Jackson, C.B.1
Nuoffer, J.M.2
Hahn, D.3
Prokisch, H.4
Haberberger, B.5
Gautschi, M.6
Haberli, A.7
Gallati, S.8
Schaller, A.9
-
24
-
-
84872947433
-
Complex II deficiency–a case report and review of the literature
-
Jain-Ghai, S., Cameron, J.M., Al Maawali, A., Blaser, S., Mackay, N., Robinson, B., Raiman, J., Complex II deficiency–a case report and review of the literature. Am. J. Med. Genet. A 161A (2013), 285–294.
-
(2013)
Am. J. Med. Genet. A
, vol.161A
, pp. 285-294
-
-
Jain-Ghai, S.1
Cameron, J.M.2
Al Maawali, A.3
Blaser, S.4
Mackay, N.5
Robinson, B.6
Raiman, J.7
-
25
-
-
51049107514
-
Group contribution method for thermodynamic analysis of complex metabolic networks
-
Jankowski, M.D., Henry, C.S., Broadbelt, L.J., Hatzimanikatis, V., Group contribution method for thermodynamic analysis of complex metabolic networks. Biophys. J. 95 (2008), 1487–1499.
-
(2008)
Biophys. J.
, vol.95
, pp. 1487-1499
-
-
Jankowski, M.D.1
Henry, C.S.2
Broadbelt, L.J.3
Hatzimanikatis, V.4
-
26
-
-
0019869334
-
The molecular basis of dominance
-
Kacser, H., Burns, J.A., The molecular basis of dominance. Genetics 97 (1981), 639–666.
-
(1981)
Genetics
, vol.97
, pp. 639-666
-
-
Kacser, H.1
Burns, J.A.2
-
27
-
-
84963765159
-
The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome
-
Kanabus, M., Fassone, E., Hughes, S.D., Bilooei, S.F., Rutherford, T., Donnell, M.O., Heales, S.J., Rahman, S., The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome. J. Inherit. Metab. Dis. 39 (2016), 415–426.
-
(2016)
J. Inherit. Metab. Dis.
, vol.39
, pp. 415-426
-
-
Kanabus, M.1
Fassone, E.2
Hughes, S.D.3
Bilooei, S.F.4
Rutherford, T.5
Donnell, M.O.6
Heales, S.J.7
Rahman, S.8
-
28
-
-
84891760956
-
Data, information, knowledge and principle: back to metabolism in KEGG
-
Kanehisa, M., Goto, S., Sato, Y., Kawashima, M., Furumichi, M., Tanabe, M., Data, information, knowledge and principle: back to metabolism in KEGG. Nucleic Acids Res. 42 (2014), D199–D205.
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. D199-D205
-
-
Kanehisa, M.1
Goto, S.2
Sato, Y.3
Kawashima, M.4
Furumichi, M.5
Tanabe, M.6
-
29
-
-
0033659683
-
Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene
-
Keightley, J.A., Anitori, R., Burton, M.D., Quan, F., Buist, N.R., Kennaway, N.G., Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Am. J. Hum. Genet. 67 (2000), 1400–1410.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 1400-1410
-
-
Keightley, J.A.1
Anitori, R.2
Burton, M.D.3
Quan, F.4
Buist, N.R.5
Kennaway, N.G.6
-
30
-
-
0032893995
-
Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder
-
Kirby, D.M., Crawford, M., Cleary, M.A., Dahl, H.H., Dennett, X., Thorburn, D.R., Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. Neurology 52 (1999), 1255–1264.
-
(1999)
Neurology
, vol.52
, pp. 1255-1264
-
-
Kirby, D.M.1
Crawford, M.2
Cleary, M.A.3
Dahl, H.H.4
Dennett, X.5
Thorburn, D.R.6
-
31
-
-
8844244960
-
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency
-
Kirby, D.M., Salemi, R., Sugiana, C., Ohtake, A., Parry, L., Bell, K.M., Kirk, E.P., Boneh, A., Taylor, R.W., Dahl, H.H., Ryan, M.T., Thorburn, D.R., NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J. Clin. Invest. 114 (2004), 837–845.
-
(2004)
J. Clin. Invest.
, vol.114
, pp. 837-845
-
-
Kirby, D.M.1
Salemi, R.2
Sugiana, C.3
Ohtake, A.4
Parry, L.5
Bell, K.M.6
Kirk, E.P.7
Boneh, A.8
Taylor, R.W.9
Dahl, H.H.10
Ryan, M.T.11
Thorburn, D.R.12
-
32
-
-
0037122942
-
Role of complex II in anaerobic respiration of the parasite mitochondria from Ascaris suum and Plasmodium falciparum
-
Kita, K., Hirawake, H., Miyadera, H., Amino, H., Takeo, S., Role of complex II in anaerobic respiration of the parasite mitochondria from Ascaris suum and Plasmodium falciparum. Biochim. Biophys. Acta 1553 (2002), 123–139.
-
(2002)
Biochim. Biophys. Acta
, vol.1553
, pp. 123-139
-
-
Kita, K.1
Hirawake, H.2
Miyadera, H.3
Amino, H.4
Takeo, S.5
-
33
-
-
84866742942
-
Natural disease course and genotype-phenotype correlations in complex I deficiency caused by nuclear gene defects: what we learned from 130 cases
-
Koene, S., Rodenburg, R.J., van der Knaap, M.S., Willemsen, M.A., Sperl, W., Laugel, V., Ostergaard, E., Tarnopolsky, M., Martin, M.A., Nesbitt, V., Fletcher, J., Edvardson, S., Procaccio, V., Slama, A., van den Heuvel, L.P., Smeitink, J.A., Natural disease course and genotype-phenotype correlations in complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. J. Inherit. Metab. Dis. 35 (2012), 737–747.
-
(2012)
J. Inherit. Metab. Dis.
, vol.35
, pp. 737-747
-
-
Koene, S.1
Rodenburg, R.J.2
van der Knaap, M.S.3
Willemsen, M.A.4
Sperl, W.5
Laugel, V.6
Ostergaard, E.7
Tarnopolsky, M.8
Martin, M.A.9
Nesbitt, V.10
Fletcher, J.11
Edvardson, S.12
Procaccio, V.13
Slama, A.14
van den Heuvel, L.P.15
Smeitink, J.A.16
-
34
-
-
0026743168
-
Bacterial fumarate respiration
-
Kröger, A., Geisler, V., Lemma, E., Theis F. and Lenger, R., Bacterial fumarate respiration. Arch. Microbiol. 158 (1992), 311–314.
-
(1992)
Arch. Microbiol.
, vol.158
, pp. 311-314
-
-
Kröger, A.1
Geisler, V.2
Lemma, E.3
Theis F. and Lenger, R.,4
-
35
-
-
77955570062
-
Glutamate receptors, neurotoxicity and neurodegeneration
-
Lau, A., Tymianski, M., Glutamate receptors, neurotoxicity and neurodegeneration. Pflugers Arch. 460 (2010), 525–542.
-
(2010)
Pflugers Arch.
, vol.460
, pp. 525-542
-
-
Lau, A.1
Tymianski, M.2
-
36
-
-
33947277486
-
Early onset opthalomoplegia in Leigh-like syndrome due to NDUFV1 mutations
-
Laugel, V., This-Bernd, V., Cormier-Daire, V., Speeg-Schatz, C., Fischbach, M., Early onset opthalomoplegia in Leigh-like syndrome due to NDUFV1 mutations. Pediatr. Neurol. 36 (2007), 54–57.
-
(2007)
Pediatr. Neurol.
, vol.36
, pp. 54-57
-
-
Laugel, V.1
This-Bernd, V.2
Cormier-Daire, V.3
Speeg-Schatz, C.4
Fischbach, M.5
-
37
-
-
0031726136
-
A Chinese girl with Leigh syndrome: effect of botulinum toxin on dystonia
-
Leung, T.F., Hui, J., Yeung, W.L., Goh, K., A Chinese girl with Leigh syndrome: effect of botulinum toxin on dystonia. J. Paediatr. Child Health 34 (1998), 480–482.
-
(1998)
J. Paediatr. Child Health
, vol.34
, pp. 480-482
-
-
Leung, T.F.1
Hui, J.2
Yeung, W.L.3
Goh, K.4
-
38
-
-
84893717400
-
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome
-
Lim, S.C., Smith, K.R., Stroud, D.A., Compton, A.G., Tucker, E.J., Dasvarma, A., Gandolfo, L.C., Marum, J.E., McKenzie, M., Peters, H.L., Mowat, D., Procopis, P.G., Wilcken, B., Christodoulou, J., Brown, G.K., Ryan, M.T., Bahlo, M., Thorburn, D.R., A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. Am. J. Hum. Genet. 94 (2014), 209–222.
-
(2014)
Am. J. Hum. Genet.
, vol.94
, pp. 209-222
-
-
Lim, S.C.1
Smith, K.R.2
Stroud, D.A.3
Compton, A.G.4
Tucker, E.J.5
Dasvarma, A.6
Gandolfo, L.C.7
Marum, J.E.8
McKenzie, M.9
Peters, H.L.10
Mowat, D.11
Procopis, P.G.12
Wilcken, B.13
Christodoulou, J.14
Brown, G.K.15
Ryan, M.T.16
Bahlo, M.17
Thorburn, D.R.18
-
39
-
-
0033967568
-
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects
-
Loeffen, J.L., Smeitink, J.A., Trijbels, J.M., Janssen, A.J., Triepels, R.H., Sengers, R.C., van den Heuvel, L.P., Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum. Mutat. 15 (2000), 123–134.
-
(2000)
Hum. Mutat.
, vol.15
, pp. 123-134
-
-
Loeffen, J.L.1
Smeitink, J.A.2
Trijbels, J.M.3
Janssen, A.J.4
Triepels, R.H.5
Sengers, R.C.6
van den Heuvel, L.P.7
-
40
-
-
77956548953
-
Cytoscape web: an interactive web-based network browser
-
Lopes, C.T., Franz, M., Kazi, F., Donaldson, S.L., Morris, Q., Bader, G.D., Cytoscape web: an interactive web-based network browser. Bioinformatics 26 (2010), 2347–2348.
-
(2010)
Bioinformatics
, vol.26
, pp. 2347-2348
-
-
Lopes, C.T.1
Franz, M.2
Kazi, F.3
Donaldson, S.L.4
Morris, Q.5
Bader, G.D.6
-
41
-
-
84946210278
-
Loss of succinate dehydrogenase activity results in dependency on pyruvate carboxylation for cellular anabolism
-
Lussey-Lepoutre, C., Hollinshead, K.E., Ludwig, C., Menara, M., Morin, A., Castro-Vega, L.J., Parker, S.J., Janin, M., Martinelli, C., Ottolenghi, C., Metallo, C., Gimenez-Roqueplo, A.P., Favier, J., Tennant, D.A., Loss of succinate dehydrogenase activity results in dependency on pyruvate carboxylation for cellular anabolism. Nat. Commun., 2015, 10.1038/ncomms9784/PMID: 26522426.
-
(2015)
Nat. Commun.
-
-
Lussey-Lepoutre, C.1
Hollinshead, K.E.2
Ludwig, C.3
Menara, M.4
Morin, A.5
Castro-Vega, L.J.6
Parker, S.J.7
Janin, M.8
Martinelli, C.9
Ottolenghi, C.10
Metallo, C.11
Gimenez-Roqueplo, A.P.12
Favier, J.13
Tennant, D.A.14
-
42
-
-
0037316239
-
Reconstruction of metabolic networks from genome data and analysis of their global structure for various organisms
-
Ma, H., Zeng, A.P., Reconstruction of metabolic networks from genome data and analysis of their global structure for various organisms. Bioinformatics 19 (2003), 270–277.
-
(2003)
Bioinformatics
, vol.19
, pp. 270-277
-
-
Ma, H.1
Zeng, A.P.2
-
43
-
-
37849029476
-
Anaerobic NADH-fumarate reductase system is predominant in the respiratory chain of Echinococcus multilocularis, providing a novel target for the chemotherapy of alveolar echinococcosis
-
Matsumoto, J., Sakamoto, K., Shinjyo, N., Kido, Y., Yamamoto, N., Yagi, K., Miyoshi, H., Nonaka, N., Katakura, K., Kita, K., Oku, Y., Anaerobic NADH-fumarate reductase system is predominant in the respiratory chain of Echinococcus multilocularis, providing a novel target for the chemotherapy of alveolar echinococcosis. Antimicrob. Agents Chemother. 52 (2008), 164–170.
-
(2008)
Antimicrob. Agents Chemother.
, vol.52
, pp. 164-170
-
-
Matsumoto, J.1
Sakamoto, K.2
Shinjyo, N.3
Kido, Y.4
Yamamoto, N.5
Yagi, K.6
Miyoshi, H.7
Nonaka, N.8
Katakura, K.9
Kita, K.10
Oku, Y.11
-
44
-
-
0034308136
-
Extracellular accumulation of nitric oxide, hydrogen peroxide, and glutamate in astrocytic cultures following glutathione depletion, complex I inhibition, and/or lipopolysaccharide-induced activation
-
McNaught, K.S., Jenner, P., Extracellular accumulation of nitric oxide, hydrogen peroxide, and glutamate in astrocytic cultures following glutathione depletion, complex I inhibition, and/or lipopolysaccharide-induced activation. Biochem. Pharmacol. 60 (2000), 979–988.
-
(2000)
Biochem. Pharmacol.
, vol.60
, pp. 979-988
-
-
McNaught, K.S.1
Jenner, P.2
-
45
-
-
84873995203
-
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation
-
Miyake, N., Yano, S., Sakai, C., Hatakeyama, H., Matsushima, Y., Shiina, M., Watanabe, Y., Bartley, J., Abdenur, J.E., Wang, R.Y., Chang, R., Tsurusaki, Y., Doi, H., Nakashima, M., Saitsu, H., Ogata, K., Goto, Y., Matsumoto, N., Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. Hum. Mutat. 34 (2013), 446–452.
-
(2013)
Hum. Mutat.
, vol.34
, pp. 446-452
-
-
Miyake, N.1
Yano, S.2
Sakai, C.3
Hatakeyama, H.4
Matsushima, Y.5
Shiina, M.6
Watanabe, Y.7
Bartley, J.8
Abdenur, J.E.9
Wang, R.Y.10
Chang, R.11
Tsurusaki, Y.12
Doi, H.13
Nakashima, M.14
Saitsu, H.15
Ogata, K.16
Goto, Y.17
Matsumoto, N.18
-
46
-
-
0021162081
-
Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis
-
Moreadith, R.W., Batshaw, M.L., Ohnishi, T., Kerr, D., Knox, B., Jackson, D., Hruban, R., Olson, J., Reynafarje, B., Lehninger, A.L., Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis. J. Clin. Invest. 74 (1984), 685–697.
-
(1984)
J. Clin. Invest.
, vol.74
, pp. 685-697
-
-
Moreadith, R.W.1
Batshaw, M.L.2
Ohnishi, T.3
Kerr, D.4
Knox, B.5
Jackson, D.6
Hruban, R.7
Olson, J.8
Reynafarje, B.9
Lehninger, A.L.10
-
47
-
-
84892175195
-
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
-
Morino, H., Miyamoto, R., Ohnishi, S., Maruyama, H., Kawakami, H., Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. BMC Neurol., 14, 2014, 5.
-
(2014)
BMC Neurol.
, vol.14
, pp. 5
-
-
Morino, H.1
Miyamoto, R.2
Ohnishi, S.3
Maruyama, H.4
Kawakami, H.5
-
48
-
-
0031003576
-
Clinical heterogeneity in respiratory chain complex III deficiency in childhood
-
Mourmans, J., Wendel, U., Bentlage, H.A., Trijbels, J.M., Smeitink, J.A., de Coo, I.F., Gabreels, F.J., Sengers, R.C., Ruitenbeek, W., Clinical heterogeneity in respiratory chain complex III deficiency in childhood. J. Neurol. Sci. 149 (1997), 111–117.
-
(1997)
J. Neurol. Sci.
, vol.149
, pp. 111-117
-
-
Mourmans, J.1
Wendel, U.2
Bentlage, H.A.3
Trijbels, J.M.4
Smeitink, J.A.5
de Coo, I.F.6
Gabreels, F.J.7
Sengers, R.C.8
Ruitenbeek, W.9
-
49
-
-
0020678857
-
Fatal lipid storage myopathy with deficiency of cytochrome c oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome c oxidase in longterm frozen muscle
-
Muller-Hocker, J., Pongratz, D., Deufel, T., Trijbels, J.M., Endres, W., Hubner, G., Fatal lipid storage myopathy with deficiency of cytochrome c oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome c oxidase in longterm frozen muscle. Virchows Arch A Pathol Anat Histopathol 399 (1983), 11–23.
-
(1983)
Virchows Arch A Pathol Anat Histopathol
, vol.399
, pp. 11-23
-
-
Muller-Hocker, J.1
Pongratz, D.2
Deufel, T.3
Trijbels, J.M.4
Endres, W.5
Hubner, G.6
-
50
-
-
84877726828
-
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency
-
Nogueira, C., Barros, J., Sa, M.J., Azevedo, L., Taipa, R., Torraco, A., Meschini, M.C., Verrigni, D., Nesti, C., Rizza, T., Teixeira, J., Carrozzo, R., Pires, M.M., Vilarinho, L., Santorelli, F.M., Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency. Neurogenetics 14 (2013), 153–160.
-
(2013)
Neurogenetics
, vol.14
, pp. 153-160
-
-
Nogueira, C.1
Barros, J.2
Sa, M.J.3
Azevedo, L.4
Taipa, R.5
Torraco, A.6
Meschini, M.C.7
Verrigni, D.8
Nesti, C.9
Rizza, T.10
Teixeira, J.11
Carrozzo, R.12
Pires, M.M.13
Vilarinho, L.14
Santorelli, F.M.15
-
51
-
-
84866497654
-
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
-
Ohlenbusch, A., Edvardson, S., Skorpen, J., Bjornstad, A., Saada, A., Elpeleg, O., Gartner, J., Brockmann, K., Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. Orphanet J Rare Dis, 7, 2012, 69.
-
(2012)
Orphanet J Rare Dis
, vol.7
, pp. 69
-
-
Ohlenbusch, A.1
Edvardson, S.2
Skorpen, J.3
Bjornstad, A.4
Saada, A.5
Elpeleg, O.6
Gartner, J.7
Brockmann, K.8
-
52
-
-
77749320898
-
What is flux balance analysis?
-
Orth, J.D., Thiele, I., Palsson, B.O., What is flux balance analysis?. Nat. Biotechnol. 28 (2010), 245–248.
-
(2010)
Nat. Biotechnol.
, vol.28
, pp. 245-248
-
-
Orth, J.D.1
Thiele, I.2
Palsson, B.O.3
-
53
-
-
84856082400
-
Mitochondrial complex I deficiency of nuclear origin I. Structural genes
-
Pagniez-Mammeri, H., Loublier, S., Legrand, A., Benit, P., Rustin, P., Slama, A., Mitochondrial complex I deficiency of nuclear origin I. Structural genes. Mol. Genet. Metab. 105 (2012), 163–172.
-
(2012)
Mol. Genet. Metab.
, vol.105
, pp. 163-172
-
-
Pagniez-Mammeri, H.1
Loublier, S.2
Legrand, A.3
Benit, P.4
Rustin, P.5
Slama, A.6
-
54
-
-
84856120776
-
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes
-
Pagniez-Mammeri, H., Rak, M., Legrand, A., Benit, P., Rustin, P., Slama, A., Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes. Mol. Genet. Metab. 105 (2012), 173–179.
-
(2012)
Mol. Genet. Metab.
, vol.105
, pp. 173-179
-
-
Pagniez-Mammeri, H.1
Rak, M.2
Legrand, A.3
Benit, P.4
Rustin, P.5
Slama, A.6
-
55
-
-
84904761024
-
Ketogenic diet in neuromuscular and neurodegenerative diseases
-
Paoli, A., Bianco, A., Damiani, E., Bosco, G., Ketogenic diet in neuromuscular and neurodegenerative diseases. Biomed. Res. Int., 2014, 2014, 474296.
-
(2014)
Biomed. Res. Int.
, vol.2014
, pp. 474296
-
-
Paoli, A.1
Bianco, A.2
Damiani, E.3
Bosco, G.4
-
56
-
-
77955619986
-
Proline metabolism and microenvironmental stress
-
Phang, J.M., Liu, W., Zabirnyk, O., Proline metabolism and microenvironmental stress. Annu. Rev. Nutr. 30 (2010), 441–463.
-
(2010)
Annu. Rev. Nutr.
, vol.30
, pp. 441-463
-
-
Phang, J.M.1
Liu, W.2
Zabirnyk, O.3
-
57
-
-
0032746175
-
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts
-
Procaccio, V., Mousson, B., Beugnot, R., Duborjal, H., Feillet, F., Putet, G., Pignot-Paintrand, I., Lombes, A., de Coo, R., Smeets, H., Lunardi, J., Issartel, J.P., Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. J. Clin. Invest. 104 (1999), 83–92.
-
(1999)
J. Clin. Invest.
, vol.104
, pp. 83-92
-
-
Procaccio, V.1
Mousson, B.2
Beugnot, R.3
Duborjal, H.4
Feillet, F.5
Putet, G.6
Pignot-Paintrand, I.7
Lombes, A.8
de Coo, R.9
Smeets, H.10
Lunardi, J.11
Issartel, J.P.12
-
58
-
-
84859511813
-
Mitochondrial disease and epilepsy
-
Rahman, S., Mitochondrial disease and epilepsy. Dev. Med. Child Neurol. 54 (2012), 397–406.
-
(2012)
Dev. Med. Child Neurol.
, vol.54
, pp. 397-406
-
-
Rahman, S.1
-
59
-
-
66549106680
-
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene
-
Ramos-Arroyo, M.A., Hualde, J., Ayechu, A., de Meirleir, L., Seneca, S., Nadal, N., Briones, P., Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. Clin. Genet. 75 (2009), 585–587.
-
(2009)
Clin. Genet.
, vol.75
, pp. 585-587
-
-
Ramos-Arroyo, M.A.1
Hualde, J.2
Ayechu, A.3
de Meirleir, L.4
Seneca, S.5
Nadal, N.6
Briones, P.7
-
60
-
-
84856547767
-
Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond
-
Roestenberg, P., Manjeri, G.R., Valsecchi, F., Smeitink, J.A., Willems, P.H., Koopman, W.J., Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond. Mitochondrion 12 (2012), 57–65.
-
(2012)
Mitochondrion
, vol.12
, pp. 57-65
-
-
Roestenberg, P.1
Manjeri, G.R.2
Valsecchi, F.3
Smeitink, J.A.4
Willems, P.H.5
Koopman, W.J.6
-
61
-
-
14844326483
-
Computational prediction of human metabolic pathways from the complete human genome
-
Romero, P., Wagg, J., Green, M.L., Kaiser, D., Krummenacker, M., Karp, P.D., Computational prediction of human metabolic pathways from the complete human genome. Genome Biol., 6, 2005, R2.
-
(2005)
Genome Biol.
, vol.6
, pp. R2
-
-
Romero, P.1
Wagg, J.2
Green, M.L.3
Kaiser, D.4
Krummenacker, M.5
Karp, P.D.6
-
62
-
-
0027217060
-
The investigation of respiratory chain disorders in heart using endomyocardial biopsies
-
Rustin, P., Lebidois, J., Chretien, D., Bourgeron, T., Piechaud, J.F., Rotig, A., Sidi, D., Munnich, A., The investigation of respiratory chain disorders in heart using endomyocardial biopsies. J. Inherit. Metab. Dis. 16 (1993), 541–544.
-
(1993)
J. Inherit. Metab. Dis.
, vol.16
, pp. 541-544
-
-
Rustin, P.1
Lebidois, J.2
Chretien, D.3
Bourgeron, T.4
Piechaud, J.F.5
Rotig, A.6
Sidi, D.7
Munnich, A.8
-
63
-
-
0037315780
-
Mutation screening in patients with isolated cytochrome c oxidase deficiency
-
Sacconi, S., Salviati, L., Sue, C.M., Shanske, S., Davidson, M.M., Bonilla, E., Naini, A.B., de Vivo, D.C., Dimauro, S., Mutation screening in patients with isolated cytochrome c oxidase deficiency. Pediatr. Res. 53 (2003), 224–230.
-
(2003)
Pediatr. Res.
, vol.53
, pp. 224-230
-
-
Sacconi, S.1
Salviati, L.2
Sue, C.M.3
Shanske, S.4
Davidson, M.M.5
Bonilla, E.6
Naini, A.B.7
de Vivo, D.C.8
Dimauro, S.9
-
64
-
-
76549086505
-
A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells
-
Shaham, O., Slate, N.G., Goldberger, O., Xu, Q., Ramanathan, A., Souza, A.L., Clish, C.B., Sims, K.B., Mootha, V.K., A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells. Proc. Natl. Acad. Sci. U. S. A. 107 (2010), 1571–1575.
-
(2010)
Proc. Natl. Acad. Sci. U. S. A.
, vol.107
, pp. 1571-1575
-
-
Shaham, O.1
Slate, N.G.2
Goldberger, O.3
Xu, Q.4
Ramanathan, A.5
Souza, A.L.6
Clish, C.B.7
Sims, K.B.8
Mootha, V.K.9
-
65
-
-
0034951707
-
Cytochrome c oxidase deficiency
-
Shoubridge, E.A., Cytochrome c oxidase deficiency. Am. J. Med. Genet. 106 (2001), 46–52.
-
(2001)
Am. J. Med. Genet.
, vol.106
, pp. 46-52
-
-
Shoubridge, E.A.1
-
66
-
-
33645052713
-
Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders
-
Smeitink, J.A., Zeviani, M., Turnbull, D.M., Jacobs, H.T., Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. Cell Metab. 3 (2006), 9–13.
-
(2006)
Cell Metab.
, vol.3
, pp. 9-13
-
-
Smeitink, J.A.1
Zeviani, M.2
Turnbull, D.M.3
Jacobs, H.T.4
-
67
-
-
0034098766
-
Transport of glutamate and other amino acids at the blood-brain barrier
-
Smith, Q.R., Transport of glutamate and other amino acids at the blood-brain barrier. J. Nutr. 130 (2000), 1016S–1022S.
-
(2000)
J. Nutr.
, vol.130
, pp. 1016S-1022S
-
-
Smith, Q.R.1
-
68
-
-
79959664729
-
A metabolic model of the mitochondrion and its use in modelling diseases of the tricarboxylic acid cycle
-
Smith, A.C., Robinson, A.J., A metabolic model of the mitochondrion and its use in modelling diseases of the tricarboxylic acid cycle. BMC Syst. Biol., 5, 2011, 102.
-
(2011)
BMC Syst. Biol.
, vol.5
, pp. 102
-
-
Smith, A.C.1
Robinson, A.J.2
-
69
-
-
84979586894
-
MitoMiner v3.1, an update on the mitochondrial proteomics database
-
Smith, A.C., Robinson, A.J., MitoMiner v3.1, an update on the mitochondrial proteomics database. Nucleic Acids Res. 44 (2016), D1258–D1261.
-
(2016)
Nucleic Acids Res.
, vol.44
, pp. D1258-D1261
-
-
Smith, A.C.1
Robinson, A.J.2
-
70
-
-
0034709403
-
A patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency
-
Sugimoto, J., Shimohira, M., Osawa, Y., Matsubara, M., Yamamoto, H., Goto, Y., Nonaka, I., A patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency. Brain and Development 22 (2000), 158–162.
-
(2000)
Brain and Development
, vol.22
, pp. 158-162
-
-
Sugimoto, J.1
Shimohira, M.2
Osawa, Y.3
Matsubara, M.4
Yamamoto, H.5
Goto, Y.6
Nonaka, I.7
-
71
-
-
0030030874
-
Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia
-
Taylor, R.W., Birch-Machin, M.A., Schaefer, J., Taylor, L., Shakir, R., Ackrell, B.A., Cochran, B., Bindoff, L.A., Jackson, M.J., Griffiths, P., Turnbull, D.M., Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia. Ann. Neurol. 39 (1996), 224–232.
-
(1996)
Ann. Neurol.
, vol.39
, pp. 224-232
-
-
Taylor, R.W.1
Birch-Machin, M.A.2
Schaefer, J.3
Taylor, L.4
Shakir, R.5
Ackrell, B.A.6
Cochran, B.7
Bindoff, L.A.8
Jackson, M.J.9
Griffiths, P.10
Turnbull, D.M.11
-
72
-
-
77955616558
-
Compartmentalization of mammalian folate-mediated one-carbon metabolism
-
Tibbetts, A.S., Appling, D.R., Compartmentalization of mammalian folate-mediated one-carbon metabolism. Annu. Rev. Nutr. 30 (2010), 57–81.
-
(2010)
Annu. Rev. Nutr.
, vol.30
, pp. 57-81
-
-
Tibbetts, A.S.1
Appling, D.R.2
-
73
-
-
84920269464
-
Tissue-based map of the human proteome
-
Uhlen, M., Fagerberg, L., Hallstrom, B.M., Lindskog, C., Oksvold, P., Mardinoglu, A., Sivertsson, A., Kampf, C., Sjostedt, E., Asplund, A., Olsson, I., Edlund, K., Lundberg, E., Navani, S., Szigyarto, C.A., Odeberg, J., Djureinovic, D., Takanen, J.O., Hober, S., Alm, T., Edqvist, P.H., Berling, H., Tegel, H., Mulder, J., Rockberg, J., Nilsson, P., Schwenk, J.M., Hamsten, M., von Feilitzen, K., Forsberg, M., Persson, L., Johansson, F., Zwahlen, M., von Heijne, G., Nielsen, J., Ponten, F., Tissue-based map of the human proteome. Science, 347, 2015, 1260419.
-
(2015)
Science
, vol.347
, pp. 1260419
-
-
Uhlen, M.1
Fagerberg, L.2
Hallstrom, B.M.3
Lindskog, C.4
Oksvold, P.5
Mardinoglu, A.6
Sivertsson, A.7
Kampf, C.8
Sjostedt, E.9
Asplund, A.10
Olsson, I.11
Edlund, K.12
Lundberg, E.13
Navani, S.14
Szigyarto, C.A.15
Odeberg, J.16
Djureinovic, D.17
Takanen, J.O.18
Hober, S.19
Alm, T.20
Edqvist, P.H.21
Berling, H.22
Tegel, H.23
Mulder, J.24
Rockberg, J.25
Nilsson, P.26
Schwenk, J.M.27
Hamsten, M.28
von Feilitzen, K.29
Forsberg, M.30
Persson, L.31
Johansson, F.32
Zwahlen, M.33
von Heijne, G.34
Nielsen, J.35
Ponten, F.36
more..
-
74
-
-
0034192365
-
A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency
-
Valnot, I., von Kleist-Retzow, J.C., Barrientos, A., Gorbatyuk, M., Taanman, J.W., Mehaye, B., Rustin, P., Tzagoloff, A., Munnich, A., Rotig, A., A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency. Hum. Mol. Genet. 9 (2000), 1245–1249.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1245-1249
-
-
Valnot, I.1
von Kleist-Retzow, J.C.2
Barrientos, A.3
Gorbatyuk, M.4
Taanman, J.W.5
Mehaye, B.6
Rustin, P.7
Tzagoloff, A.8
Munnich, A.9
Rotig, A.10
-
75
-
-
0017665294
-
Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles
-
van Biervliet, J.P., Bruinvis, L., Ketting, D., de Bree, P.K., van der Heiden, C., Wadman, S.K., Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles. Pediatr. Res. 11 (1977), 1088–1093.
-
(1977)
Pediatr. Res.
, vol.11
, pp. 1088-1093
-
-
van Biervliet, J.P.1
Bruinvis, L.2
Ketting, D.3
de Bree, P.K.4
van der Heiden, C.5
Wadman, S.K.6
-
76
-
-
84925013990
-
Emerging concepts in the therapy of mitochondrial disease
-
Viscomi, C., Bottani, E., Zeviani, M., Emerging concepts in the therapy of mitochondrial disease. Biochim. Biophys. Acta 1847 (2015), 544–557.
-
(2015)
Biochim. Biophys. Acta
, vol.1847
, pp. 544-557
-
-
Viscomi, C.1
Bottani, E.2
Zeviani, M.3
-
77
-
-
0032231707
-
A high rate (20%–30%) of parental consanguinity in cytochrome-oxidase deficiency
-
von Kleist-Retzow, J.C., Cormier-Daire, V., de Lonlay, P., Parfait, B., Chretien, D., Rustin, P., Feingold, J., Rotig, A., Munnich, A., A high rate (20%–30%) of parental consanguinity in cytochrome-oxidase deficiency. Am. J. Hum. Genet. 63 (1998), 428–435.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 428-435
-
-
von Kleist-Retzow, J.C.1
Cormier-Daire, V.2
de Lonlay, P.3
Parfait, B.4
Chretien, D.5
Rustin, P.6
Feingold, J.7
Rotig, A.8
Munnich, A.9
-
78
-
-
84896289322
-
Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction
-
Zhang, Z., Falk, M.J., Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction. Int. J. Biochem. Cell Biol. 50 (2014), 106–111.
-
(2014)
Int. J. Biochem. Cell Biol.
, vol.50
, pp. 106-111
-
-
Zhang, Z.1
Falk, M.J.2
|