-
1
-
-
0029876402
-
The possible role of hydrogen sulfide as an endogenous neuromodulator
-
Abe K, Kimura H (1996) The possible role of hydrogen sulfide as an endogenous neuromodulator. J Neurosci 16: 1066-1071
-
(1996)
J Neurosci
, vol.16
, pp. 1066-1071
-
-
Abe, K.1
Kimura, H.2
-
3
-
-
0343046652
-
Biosynthesis of nucleotides
-
Berg M, Tymoczko JL, Stryer L (eds) New York: Freeman
-
Berg M, Tymoczko JL, Stryer L (2002) Biosynthesis of nucleotides. In Biochemistry, Berg M, Tymoczko JL, Stryer L (eds), pp 602-626. New York: Freeman
-
(2002)
Biochemistry
, pp. 602-626
-
-
Berg, M.1
Tymoczko, J.L.2
Stryer, L.3
-
4
-
-
0017098746
-
Thymidylate nucleotide supply for mitochondrial DNA synthesis in mouse L-cells. Effect of 5-fluoro-deoxyuridine and methotrexate in thymidine kinase plus and thymidine kinase minus cells
-
Bogenhagen D, Clayton DA (1976) Thymidylate nucleotide supply for mitochondrial DNA synthesis in mouse L-cells. Effect of 5-fluoro-deoxyuridine and methotrexate in thymidine kinase plus and thymidine kinase minus cells. J Biol Chem 251: 2938-2944
-
(1976)
J Biol Chem
, vol.251
, pp. 2938-2944
-
-
Bogenhagen, D.1
Clayton, D.A.2
-
5
-
-
84900534923
-
Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy
-
Boschetti E, D'Alessandro R, Bianco F, Carelli V, Cenacchi G, Pinna AD, Del Gaudio M, Rinaldi R, Stanghellini V, Pironi L et al (2014) Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy. PLoS ONE 9: e96692
-
(2014)
PLoS ONE
, vol.9
, pp. e96692
-
-
Boschetti, E.1
D'Alessandro, R.2
Bianco, F.3
Carelli, V.4
Cenacchi, G.5
Pinna, A.D.6
Del Gaudio, M.7
Rinaldi, R.8
Stanghellini, V.9
Pironi, L.10
-
6
-
-
77957718685
-
Hydrogen sulfide is an endogenous inhibitor of phosphodiesterase activity
-
Bucci M, Papapetropoulos A, Vellecco V, Zhou Z, Pyriochou A, Roussos C, Roviezzo F, Brancaleone V, Cirino G (2010) Hydrogen sulfide is an endogenous inhibitor of phosphodiesterase activity. Arterioscler Thromb Vasc Biol 30: 1998-2004
-
(2010)
Arterioscler Thromb Vasc Biol
, vol.30
, pp. 1998-2004
-
-
Bucci, M.1
Papapetropoulos, A.2
Vellecco, V.3
Zhou, Z.4
Pyriochou, A.5
Roussos, C.6
Roviezzo, F.7
Brancaleone, V.8
Cirino, G.9
-
7
-
-
0025792004
-
New clinical phenotype of branched-chain acyl-CoA oxidation defect
-
Burlina A, Zacchello F, Dionisi-Vici C, Bertini E, Sabetta G, Bennet MJ, Hale DE, Schmidt-Sommerfeld E, Rinaldo P (1991) New clinical phenotype of branched-chain acyl-CoA oxidation defect. Lancet 338: 1522-1523
-
(1991)
Lancet
, vol.338
, pp. 1522-1523
-
-
Burlina, A.1
Zacchello, F.2
Dionisi-Vici, C.3
Bertini, E.4
Sabetta, G.5
Bennet, M.J.6
Hale, D.E.7
Schmidt-Sommerfeld, E.8
Rinaldo, P.9
-
8
-
-
84897559267
-
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome
-
Cámara Y, González-Vioque E, Scarpelli M, Torres-Torronteras J, Caballero A, Hirano M, Martí R (2014) Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome. Hum Mol Genet 23: 2459-2467
-
(2014)
Hum Mol Genet
, vol.23
, pp. 2459-2467
-
-
Cámara, Y.1
González-Vioque, E.2
Scarpelli, M.3
Torres-Torronteras, J.4
Caballero, A.5
Hirano, M.6
Martí, R.7
-
9
-
-
0014217388
-
Mechanism of action of carbonic anhydrase: substrate, sulfonamide, and anion binding
-
Coleman JE (1967) Mechanism of action of carbonic anhydrase: substrate, sulfonamide, and anion binding. J Biol Chem 242: 5212-5219
-
(1967)
J Biol Chem
, vol.242
, pp. 5212-5219
-
-
Coleman, J.E.1
-
10
-
-
34848889052
-
Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency
-
Delicou S, Kitra-Roussou V, Peristeri J, Goussetis E, Vessalas G, Rigatou E, Psychou F, Salavoura K, Grafakos S (2007) Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency. Pedriat Transplant 11: 799-803
-
(2007)
Pedriat Transplant
, vol.11
, pp. 799-803
-
-
Delicou, S.1
Kitra-Roussou, V.2
Peristeri, J.3
Goussetis, E.4
Vessalas, G.5
Rigatou, E.6
Psychou, F.7
Salavoura, K.8
Grafakos, S.9
-
11
-
-
84865725896
-
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy
-
Di Meo I, Auricchio A, Lamperti C, Burlina A, Viscomi C, Zeviani M (2012) Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy. EMBO Mol Med 4: 1008-1014
-
(2012)
EMBO Mol Med
, vol.4
, pp. 1008-1014
-
-
Di Meo, I.1
Auricchio, A.2
Lamperti, C.3
Burlina, A.4
Viscomi, C.5
Zeviani, M.6
-
12
-
-
79959512799
-
Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy
-
Di Meo I, Fagiolari G, Prelle A, Viscomi C, Zeviani M, Tiranti V (2011) Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy. Antioxid Redox Signal 15: 353-362
-
(2011)
Antioxid Redox Signal
, vol.15
, pp. 353-362
-
-
Di Meo, I.1
Fagiolari, G.2
Prelle, A.3
Viscomi, C.4
Zeviani, M.5
Tiranti, V.6
-
13
-
-
79952207040
-
Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches
-
Drousiotou A, DiMeo I, Mineri R, Georgiou T, Stylianidou G, Tiranti V (2011) Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches. Clin Genet 79: 385-390
-
(2011)
Clin Genet
, vol.79
, pp. 385-390
-
-
Drousiotou, A.1
DiMeo, I.2
Mineri, R.3
Georgiou, T.4
Stylianidou, G.5
Tiranti, V.6
-
14
-
-
77249096370
-
Regulation of cardio- vascular cell function by hydrogen sulfide (H2S)
-
Elsey DJ, Fowkes RC, Baxter GF (2010) Regulation of cardio- vascular cell function by hydrogen sulfide (H2S). Cell Biochem Funct 28: 95-106
-
(2010)
Cell Biochem Funct
, vol.28
, pp. 95-106
-
-
Elsey, D.J.1
Fowkes, R.C.2
Baxter, G.F.3
-
15
-
-
37549038706
-
Interaction of cardiovascular risk factors with myocardial ischemia/reperfusion injury, preconditioning, and postconditioning
-
Ferdinandy P, Schulz R, Baxter GF (2007) Interaction of cardiovascular risk factors with myocardial ischemia/reperfusion injury, preconditioning, and postconditioning. Pharmacol Rev 59: 418-458
-
(2007)
Pharmacol Rev
, vol.59
, pp. 418-458
-
-
Ferdinandy, P.1
Schulz, R.2
Baxter, G.F.3
-
16
-
-
84863318000
-
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy
-
Giordano C, Viscomi C, Orlandi M, Papoff P, Spalice A, Burlina A, Di Meo I, Tiranti V, Leuzzi V, d'Amati G et al (2012) Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy. J Inherit Metab Dis 35: 451-458
-
(2012)
J Inherit Metab Dis
, vol.35
, pp. 451-458
-
-
Giordano, C.1
Viscomi, C.2
Orlandi, M.3
Papoff, P.4
Spalice, A.5
Burlina, A.6
Di Meo, I.7
Tiranti, V.8
Leuzzi, V.9
d'Amati, G.10
-
17
-
-
33745089314
-
Adeno-associated virus as a gene therapy vector: vector development, production and clinical applications
-
Grieger JC, Samulski RJ (2005) Adeno-associated virus as a gene therapy vector: vector development, production and clinical applications. Adv Biochem Eng Biotechnol 99: 119-145
-
(2005)
Adv Biochem Eng Biotechnol
, vol.99
, pp. 119-145
-
-
Grieger, J.C.1
Samulski, R.J.2
-
18
-
-
79952533538
-
Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach
-
Halter J, Schüpbach WM, Casali C, Elhasid R, Fay K, Hammans S, Illa I, Kappeler L, Krähenbühl S, Lehmann T et al (2011) Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach. Bone Marrow Transplant 46: 330-337
-
(2011)
Bone Marrow Transplant
, vol.46
, pp. 330-337
-
-
Halter, J.1
Schüpbach, W.M.2
Casali, C.3
Elhasid, R.4
Fay, K.5
Hammans, S.6
Illa, I.7
Kappeler, L.8
Krähenbühl, S.9
Lehmann, T.10
-
19
-
-
84881530220
-
Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications
-
Hildebrandt TM, Di Meo I, Zeviani M, Viscomi C, Braun HP (2013) Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications. Biosci Rep 33: 575-584
-
(2013)
Biosci Rep
, vol.33
, pp. 575-584
-
-
Hildebrandt, T.M.1
Di Meo, I.2
Zeviani, M.3
Viscomi, C.4
Braun, H.P.5
-
20
-
-
44949214775
-
Three enzymatic activities catalyze the oxidation of sulfide to thiosulfate in mammalian and invertebrate mitochondria
-
Hildebrandt TM, Grieshaber MK (2008) Three enzymatic activities catalyze the oxidation of sulfide to thiosulfate in mammalian and invertebrate mitochondria. FEBS J 275: 3352-3361
-
(2008)
FEBS J
, vol.275
, pp. 3352-3361
-
-
Hildebrandt, T.M.1
Grieshaber, M.K.2
-
21
-
-
0021665682
-
Interactions of sulphide and other ligands with cytochrome c oxidase. An electron-paramagnetic-resonance study
-
Hill BC, Woon TC, Nicholls P, Peterson J, Greenwood C, Thomson AJ (1984) Interactions of sulphide and other ligands with cytochrome c oxidase. An electron-paramagnetic-resonance study. Biochem J 224: 591-600
-
(1984)
Biochem J
, vol.224
, pp. 591-600
-
-
Hill, B.C.1
Woon, T.C.2
Nicholls, P.3
Peterson, J.4
Greenwood, C.5
Thomson, A.J.6
-
22
-
-
84920995923
-
Endogenous hydrogen sulfide production is essential for dietary restriction benefits
-
Hine C, Harputlugil E, Zhang Y, Ruckenstuhl C, Lee BC, Brace L, Longchamp A, Treviño-Villarreal JH, Mejia P, Ozaki CK et al (2015) Endogenous hydrogen sulfide production is essential for dietary restriction benefits. Cell 160: 132-144
-
(2015)
Cell
, vol.160
, pp. 132-144
-
-
Hine, C.1
Harputlugil, E.2
Zhang, Y.3
Ruckenstuhl, C.4
Lee, B.C.5
Brace, L.6
Longchamp, A.7
Treviño-Villarreal, J.H.8
Mejia, P.9
Ozaki, C.K.10
-
23
-
-
84859436493
-
CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders
-
Hirano M, Garone C, Quinzii CM (2012) CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders. Biochim Biophys Acta 1820: 625-631
-
(2012)
Biochim Biophys Acta
, vol.1820
, pp. 625-631
-
-
Hirano, M.1
Garone, C.2
Quinzii, C.M.3
-
24
-
-
33750306390
-
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE
-
Hirano M, Martí R, Casali C, Tadesse S, Uldrick T, Fine B, Escolar DM, Valentino ML, Nishino I, Hesdorffer C et al (2006) Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology 67: 1458-1460
-
(2006)
Neurology
, vol.67
, pp. 1458-1460
-
-
Hirano, M.1
Martí, R.2
Casali, C.3
Tadesse, S.4
Uldrick, T.5
Fine, B.6
Escolar, D.M.7
Valentino, M.L.8
Nishino, I.9
Hesdorffer, C.10
-
25
-
-
10344248199
-
Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder
-
Hirano M, Martí R, Spinazzola A, Nishino I, Nishigaki Y (2004) Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder. Nucleos Nucleot Nucl 23: 1217-1225
-
(2004)
Nucleos Nucleot Nucl
, vol.23
, pp. 1217-1225
-
-
Hirano, M.1
Martí, R.2
Spinazzola, A.3
Nishino, I.4
Nishigaki, Y.5
-
26
-
-
0028301915
-
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
-
Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E, Hays AP, Lovelace RE, Butler I, Bertorini TE et al (1994) Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 44: 721-727
-
(1994)
Neurology
, vol.44
, pp. 721-727
-
-
Hirano, M.1
Silvestri, G.2
Blake, D.M.3
Lombes, A.4
Minetti, C.5
Bonilla, E.6
Hays, A.P.7
Lovelace, R.E.8
Butler, I.9
Bertorini, T.E.10
-
27
-
-
84867522886
-
Human sulfide: quinone oxidoreductase catalyzes the first step in hydrogen sulfide metabolism and produces a sulfane sulfur metabolite
-
Jackson MR, Melideo SL, Jorns MS (2012) Human sulfide: quinone oxidoreductase catalyzes the first step in hydrogen sulfide metabolism and produces a sulfane sulfur metabolite. Biochemistry 51: 6804-6815
-
(2012)
Biochemistry
, vol.51
, pp. 6804-6815
-
-
Jackson, M.R.1
Melideo, S.L.2
Jorns, M.S.3
-
28
-
-
0030887265
-
Cloning of the cDNA and chromosome localization of the gene for human thymidine kinase 2
-
Johansson M, Karlsson A (1997) Cloning of the cDNA and chromosome localization of the gene for human thymidine kinase 2. J Biol Chem 272: 8454-8458
-
(1997)
J Biol Chem
, vol.272
, pp. 8454-8458
-
-
Johansson, M.1
Karlsson, A.2
-
29
-
-
3042651344
-
Endogenous production of hydrogen sulfide
-
Kamoun P (2004) Endogenous production of hydrogen sulfide. Amino Acids 26: 243-254
-
(2004)
Amino Acids
, vol.26
, pp. 243-254
-
-
Kamoun, P.1
-
30
-
-
9444263079
-
Hydrogen sulfide protects neurons from oxidative stress
-
Kimura Y, Kimura H (2004) Hydrogen sulfide protects neurons from oxidative stress. FASEB J 18: 1165-1167
-
(2004)
FASEB J
, vol.18
, pp. 1165-1167
-
-
Kimura, Y.1
Kimura, H.2
-
32
-
-
34250629704
-
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches
-
Lara MC, Valentino ML, Torres-Torronteras J, Hirano M, Martí R (2007) Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches. Biosci Rep 27: 151-163
-
(2007)
Biosci Rep
, vol.27
, pp. 151-163
-
-
Lara, M.C.1
Valentino, M.L.2
Torres-Torronteras, J.3
Hirano, M.4
Martí, R.5
-
33
-
-
84942821990
-
Infusion of platelets transiently reduces nucleoside overload in MNGIE
-
Lara MC, Weiss B, Illa I, Madoz P, Massuet L, Andreu AL, Valentino ML, Anikster Y, Hirano M, Martí R (2006) Infusion of platelets transiently reduces nucleoside overload in MNGIE. Biosci Rep 27: 151-163
-
(2006)
Biosci Rep
, vol.27
, pp. 151-163
-
-
Lara, M.C.1
Weiss, B.2
Illa, I.3
Madoz, P.4
Massuet, L.5
Andreu, A.L.6
Valentino, M.L.7
Anikster, Y.8
Hirano, M.9
Martí, R.10
-
34
-
-
58949094557
-
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
-
López LC, Akman HO, 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
-
35
-
-
84926320705
-
Increased Rrm2 gene dosage reduces fragile site breakage and prolongs survival of ATR mutant mice
-
Lopez-Contreras AJ, Specks J, Barlow JH, Ambrogio C, Desler C, Vikingsson S, Rodrigo-Perez S, Green H, Rasmussen LJ, Murga M et al (2015) Increased Rrm2 gene dosage reduces fragile site breakage and prolongs survival of ATR mutant mice. Genes Dev 29: 690-695
-
(2015)
Genes Dev
, vol.29
, pp. 690-695
-
-
Lopez-Contreras, A.J.1
Specks, J.2
Barlow, J.H.3
Ambrogio, C.4
Desler, C.5
Vikingsson, S.6
Rodrigo-Perez, S.7
Green, H.8
Rasmussen, L.J.9
Murga, M.10
-
36
-
-
73449124480
-
Mitochondrial glutathione, a key survival antioxidant
-
Marí M, Morales A, Colell A, García-Ruiz C, Fernandez-Checa JC (2009) Mitochondrial glutathione, a key survival antioxidant. Antioxid Redox Signal 11: 2685-2700
-
(2009)
Antioxid Redox Signal
, vol.11
, pp. 2685-2700
-
-
Marí, M.1
Morales, A.2
Colell, A.3
García-Ruiz, C.4
Fernandez-Checa, J.C.5
-
37
-
-
0042474390
-
Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders
-
Martí R, Nishigaki Y, Vilá MR, Hirano M (2003) Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders. Clin Chem Lab Med 41: 845-851
-
(2003)
Clin Chem Lab Med
, vol.41
, pp. 845-851
-
-
Martí, R.1
Nishigaki, Y.2
Vilá, M.R.3
Hirano, M.4
-
38
-
-
0039575829
-
Tissue distribution of human gliostatin/platelet-derived endothelial cell growth factor (PD-ECGF) and its drug-induced expression
-
Matsukawa K, Moriyama A, Kawai Y, Asai K, Kato T (1996) Tissue distribution of human gliostatin/platelet-derived endothelial cell growth factor (PD-ECGF) and its drug-induced expression. Biochim Biophys Acta 1314: 71-82
-
(1996)
Biochim Biophys Acta
, vol.1314
, pp. 71-82
-
-
Matsukawa, K.1
Moriyama, A.2
Kawai, Y.3
Asai, K.4
Kato, T.5
-
39
-
-
47149107953
-
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
-
Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F et al (2008) Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. J Med Genet 45: 473-478
-
(2008)
J Med Genet
, vol.45
, pp. 473-478
-
-
Mineri, R.1
Rimoldi, M.2
Burlina, A.B.3
Koskull, S.4
Perletti, C.5
Heese, B.6
von Döbeln, U.7
Mereghetti, P.8
Di Meo, I.9
Invernizzi, F.10
-
40
-
-
52449090145
-
Carrier erythrocyte entrapped thymidine phosphorylase therapy for MNGIE
-
Moran NF, Bain MD, Muqit MM, Bax BE (2008) Carrier erythrocyte entrapped thymidine phosphorylase therapy for MNGIE. Neurology 71: 686-688
-
(2008)
Neurology
, vol.71
, pp. 686-688
-
-
Moran, N.F.1
Bain, M.D.2
Muqit, M.M.3
Bax, B.E.4
-
41
-
-
2442655642
-
Hydrogen sulfide induces calcium waves in astrocytes
-
Nagai Y, Tsugane M, Oka J, Kimura H (2004) Hydrogen sulfide induces calcium waves in astrocytes. FASEB J 18: 557-559
-
(2004)
FASEB J
, vol.18
, pp. 557-559
-
-
Nagai, Y.1
Tsugane, M.2
Oka, J.3
Kimura, H.4
-
42
-
-
84855161388
-
Adenovirus-associated virus vector-mediated gene transfer in hemophilia B
-
Nathwani AC, Tuddenham EG, Rangarajan S, Rosales C, McIntosh J, Linch DC, Chowdary P, Riddell A, Pie AJ, Harrington C et al (2011) Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N Eng J Med 365: 2357-2365
-
(2011)
N Eng J Med
, vol.365
, pp. 2357-2365
-
-
Nathwani, A.C.1
Tuddenham, E.G.2
Rangarajan, S.3
Rosales, C.4
McIntosh, J.5
Linch, D.C.6
Chowdary, P.7
Riddell, A.8
Pie, A.J.9
Harrington, C.10
-
43
-
-
85047694201
-
Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency
-
Nishigaki Y, Martí R, Copeland WC, Hirano M (2003) Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J Clin Invest 111: 1913-1921
-
(2003)
J Clin Invest
, vol.111
, pp. 1913-1921
-
-
Nishigaki, Y.1
Martí, R.2
Copeland, W.C.3
Hirano, M.4
-
44
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
Nishino I, Spinazzola A, Hirano M (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283: 689-692
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
45
-
-
0034096975
-
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations
-
Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD, Connolly AM, Verloes A, Guimarães J, Maillard I et al (2000) Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 47: 792-800
-
(2000)
Ann Neurol
, vol.47
, pp. 792-800
-
-
Nishino, I.1
Spinazzola, A.2
Papadimitriou, A.3
Hammans, S.4
Steiner, I.5
Hahn, C.D.6
Connolly, A.M.7
Verloes, A.8
Guimarães, J.9
Maillard, I.10
-
46
-
-
0031863503
-
Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism
-
Nowaczyk MJ, Lehotay DC, Platt BA, Fisher L, Tan R, Phillips H, Clarke JT (1998) Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. Metabolism 47: 836-839
-
(1998)
Metabolism
, vol.47
, pp. 836-839
-
-
Nowaczyk, M.J.1
Lehotay, D.C.2
Platt, B.A.3
Fisher, L.4
Tan, R.5
Phillips, H.6
Clarke, J.T.7
-
47
-
-
33745115862
-
Hydrogen sulfide inhibits nitric oxide production and nuclear factor-kB via heme oxygenase-1 expression in RAW2647 macrophages stimulated with lipopolysaccharide
-
Oh GS, Pae HO, Lee BS, Kim BN, Kim JM, Kim HR, Jeon SB, Jeon WK, Chae HJ, Chung HT (2006) Hydrogen sulfide inhibits nitric oxide production and nuclear factor-kB via heme oxygenase-1 expression in RAW2647 macrophages stimulated with lipopolysaccharide. Free Radic Biol Med 41: 106-119
-
(2006)
Free Radic Biol Med
, vol.41
, pp. 106-119
-
-
Oh, G.S.1
Pae, H.O.2
Lee, B.S.3
Kim, B.N.4
Kim, J.M.5
Kim, H.R.6
Jeon, S.B.7
Jeon, W.K.8
Chae, H.J.9
Chung, H.T.10
-
48
-
-
0016884709
-
Congenital oculoskeletal myopathy with abnormal muscle and liver mitochondria
-
Okamura K, Santa T, Nagae K, Omae T (1976) Congenital oculoskeletal myopathy with abnormal muscle and liver mitochondria. J Neurol Sci 27: 79-91
-
(1976)
J Neurol Sci
, vol.27
, pp. 79-91
-
-
Okamura, K.1
Santa, T.2
Nagae, K.3
Omae, T.4
-
49
-
-
0347481388
-
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency
-
Pedersen CB, Bross P, Winter VS, Corydon TJ, Bolund L, Bartlett K, Vockley J, Gregersen N (2003) Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. J Biol Chem 278: 47449-47458
-
(2003)
J Biol Chem
, vol.278
, pp. 47449-47458
-
-
Pedersen, C.B.1
Bross, P.2
Winter, V.S.3
Corydon, T.J.4
Bolund, L.5
Bartlett, K.6
Vockley, J.7
Gregersen, N.8
-
50
-
-
84931566984
-
Mitochondrial neurogastrointestinal encephalomyopathy treated with stem cell transplantation: a case report and review of literature
-
Peedikayil MC, Kagevi EI, Abufarhaneh E, Alsayed MD, Alzahrani HA (2015) Mitochondrial neurogastrointestinal encephalomyopathy treated with stem cell transplantation: a case report and review of literature. Hematol Oncol Stem Cell Ther 8: 85-90
-
(2015)
Hematol Oncol Stem Cell Ther
, vol.8
, pp. 85-90
-
-
Peedikayil, M.C.1
Kagevi, E.I.2
Abufarhaneh, E.3
Alsayed, M.D.4
Alzahrani, H.A.5
-
51
-
-
84937831776
-
Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy
-
Pettinati I, Brem J, McDonough MA, Schofield CJ (2015) Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy. Hum Mol Genet 24: 2458-2469
-
(2015)
Hum Mol Genet
, vol.24
, pp. 2458-2469
-
-
Pettinati, I.1
Brem, J.2
McDonough, M.A.3
Schofield, C.J.4
-
52
-
-
33747339725
-
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy
-
Pontarin G, Ferraro P, Valentino ML, Hirano M, Reichard P, Bianchi V (2006) Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy. J Biol Chem 281: 22720-22728
-
(2006)
J Biol Chem
, vol.281
, pp. 22720-22728
-
-
Pontarin, G.1
Ferraro, P.2
Valentino, M.L.3
Hirano, M.4
Reichard, P.5
Bianchi, V.6
-
53
-
-
0142123111
-
Origins of mitochondrial thymidine triphosphate: dynamic relations to cytosolic pools
-
Pontarin G, Gallinaro L, Ferraro P, Reichard P, Bianchi V (2003) Origins of mitochondrial thymidine triphosphate: dynamic relations to cytosolic pools. Proc Natl Acad Sci USA 100: 12159-12164
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 12159-12164
-
-
Pontarin, G.1
Gallinaro, L.2
Ferraro, P.3
Reichard, P.4
Bianchi, V.5
-
54
-
-
0022554531
-
Hydrogen sulfide oxidation is coupled to oxidative phosphorylation in mitochondria of Solemya reidi
-
Powell MA, Somero GN (1986) Hydrogen sulfide oxidation is coupled to oxidative phosphorylation in mitochondria of Solemya reidi. Science 233: 563-566
-
(1986)
Science
, vol.233
, pp. 563-566
-
-
Powell, M.A.1
Somero, G.N.2
-
55
-
-
1642504420
-
Impact of hydrogen sulfide on carbon monoxide/heme oxygenase pathway in the pathogenesis of hypoxic pulmonary hypertension
-
Qingyou Z, Junbao D, Weijin Z, Hui Y, Chaoshu T, Chunyu Z (2004) Impact of hydrogen sulfide on carbon monoxide/heme oxygenase pathway in the pathogenesis of hypoxic pulmonary hypertension. Biochem Biophys Res Commun 317: 30-37
-
(2004)
Biochem Biophys Res Commun
, vol.317
, pp. 30-37
-
-
Qingyou, Z.1
Junbao, D.2
Weijin, Z.3
Hui, Y.4
Chaoshu, T.5
Chunyu, Z.6
-
56
-
-
60049100513
-
Sulphate-reducing bacteria and hydrogen sulphide in the aetiology of ulcerative colitis
-
Rowan FE, Docherty NG, Coffey JC, O'Connell PR (2009) Sulphate-reducing bacteria and hydrogen sulphide in the aetiology of ulcerative colitis. Br J Surg 96: 151-158
-
(2009)
Br J Surg
, vol.96
, pp. 151-158
-
-
Rowan, F.E.1
Docherty, N.G.2
Coffey, J.C.3
O'Connell, P.R.4
-
57
-
-
0032780258
-
Why metronidazole is active against both bacteria and parasites
-
Samuelson J (1999) Why metronidazole is active against both bacteria and parasites. Antimicrob Agents Chemother 43: 1533-1541
-
(1999)
Antimicrob Agents Chemother
, vol.43
, pp. 1533-1541
-
-
Samuelson, J.1
-
58
-
-
84927563455
-
Fatty acid carbon is essential for dNTP synthesis in endothelial cells
-
Schoors S, Bruning U, Missiaen R, Queiroz KC, Borgers G, Elia I, Zecchin A, Cantelmo AR, Christen S, Goveia J et al (2015) Fatty acid carbon is essential for dNTP synthesis in endothelial cells. Nature 520: 192-197
-
(2015)
Nature
, vol.520
, pp. 192-197
-
-
Schoors, S.1
Bruning, U.2
Missiaen, R.3
Queiroz, K.C.4
Borgers, G.5
Elia, I.6
Zecchin, A.7
Cantelmo, A.R.8
Christen, S.9
Goveia, J.10
-
59
-
-
33645758448
-
ETHE1 mutations are specific to ethylmalonic encephalopathy
-
Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B et al (2006) ETHE1 mutations are specific to ethylmalonic encephalopathy. J Med Genet 43: 340-346
-
(2006)
J Med Genet
, vol.43
, pp. 340-346
-
-
Tiranti, V.1
Briem, E.2
Lamantea, E.3
Mineri, R.4
Papaleo, E.5
De Gioia, L.6
Forlani, F.7
Rinaldo, P.8
Dickson, P.9
Abu-Libdeh, B.10
-
60
-
-
10744232283
-
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein
-
Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B et al (2004) Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet 74: 239-252
-
(2004)
Am J Hum Genet
, vol.74
, pp. 239-252
-
-
Tiranti, V.1
D'Adamo, P.2
Briem, E.3
Ferrari, G.4
Mineri, R.5
Lamantea, E.6
Mandel, H.7
Balestri, P.8
Garcia-Silva, M.T.9
Vollmer, B.10
-
61
-
-
59649121556
-
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy
-
Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD, Prelle A, Fagiolari G, Rimoldi M et al (2009) Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med 15: 200-205
-
(2009)
Nat Med
, vol.15
, pp. 200-205
-
-
Tiranti, V.1
Viscomi, C.2
Hildebrandt, T.3
Di Meo, I.4
Mineri, R.5
Tiveron, C.6
Levitt, M.D.7
Prelle, A.8
Fagiolari, G.9
Rimoldi, M.10
-
62
-
-
84872029094
-
Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy
-
Tiranti V, Zeviani M (2013) Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy. Cold Spring Harb Perspect Biol 5: a011437
-
(2013)
Cold Spring Harb Perspect Biol
, vol.5
, pp. a011437
-
-
Tiranti, V.1
Zeviani, M.2
-
63
-
-
80051787360
-
Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE
-
Torres-Torronteras J, Gómez A, Eixarch H, Palenzuela L, Pizzorno G, Hirano M, Andreu AL, Barquinero J, Martí R (2011) Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE. Gene Ther 18:795-806
-
(2011)
Gene Ther
, vol.18
, pp. 795-806
-
-
Torres-Torronteras, J.1
Gómez, A.2
Eixarch, H.3
Palenzuela, L.4
Pizzorno, G.5
Hirano, M.6
Andreu, A.L.7
Barquinero, J.8
Martí, R.9
-
64
-
-
84942820436
-
Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE
-
Torres-Torronteras J, Viscomi C, Cabrera-Pérez R, Cámara Y, Di Meo I, Barquinero J, Auricchio A, Pizzorno G, Hirano M, Zeviani M et al (2014) Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE. Mol Ther 23: 2459-2467
-
(2014)
Mol Ther
, vol.23
, pp. 2459-2467
-
-
Torres-Torronteras, J.1
Viscomi, C.2
Cabrera-Pérez, R.3
Cámara, Y.4
Di Meo, I.5
Barquinero, J.6
Auricchio, A.7
Pizzorno, G.8
Hirano, M.9
Zeviani, M.10
-
65
-
-
77955427368
-
Combined treatment with oral metronidazole and N-ace- tylcysteine is effective in ethylmalonic encephalopathy
-
Viscomi C, Burlina AB, Dweikat I, Savoiardo M, Lamperti C, Hildebrandt T, Tiranti V, Zeviani M (2010) Combined treatment with oral metronidazole and N-ace- tylcysteine is effective in ethylmalonic encephalopathy. Nat Med 16: 869-871
-
(2010)
Nat Med
, vol.16
, pp. 869-871
-
-
Viscomi, C.1
Burlina, A.B.2
Dweikat, I.3
Savoiardo, M.4
Lamperti, C.5
Hildebrandt, T.6
Tiranti, V.7
Zeviani, M.8
-
66
-
-
23844558266
-
A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine
-
Wallace DC (2005) A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu Rev Genet 39: 359-407
-
(2005)
Annu Rev Genet
, vol.39
, pp. 359-407
-
-
Wallace, D.C.1
-
67
-
-
0002040183
-
Hereditary orotic aciduria and other disorders
-
8th edn. Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) New York: McGraw-Hill
-
Webster DR, Becroft DM, van Gennip A, Van Kuilenberg A (2001) Hereditary orotic aciduria and other disorders. In The Metabolic and Molecular Bases of Inherited Disease, 8th edn. Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds), pp 2663-2702. New York: McGraw-Hill
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2663-2702
-
-
Webster, D.R.1
Becroft, D.M.2
van Gennip, A.3
Van Kuilenberg, A.4
-
68
-
-
3343017187
-
The novel neuromodulator hydrogen sulfide: an endogenous peroxynitrite "scavenger?"
-
Whiteman M, Armstrong JS, Chu SH, Jia-Ling S, Wong BS, Cheung NS, Halliwell B, Moore PK (2004) The novel neuromodulator hydrogen sulfide: an endogenous peroxynitrite "scavenger?". J Neurochem 90: 765-768
-
(2004)
J Neurochem
, vol.90
, pp. 765-768
-
-
Whiteman, M.1
Armstrong, J.S.2
Chu, S.H.3
Jia-Ling, S.4
Wong, B.S.5
Cheung, N.S.6
Halliwell, B.7
Moore, P.K.8
-
69
-
-
67651085807
-
Electrophysio- logical effects of hydrogen sulfide on pacemaker cells in sinoatrial nodes of rabbits
-
Xu M, Wu YM, Li Q, Wang X, He RR (2008) Electrophysio- logical effects of hydrogen sulfide on pacemaker cells in sinoatrial nodes of rabbits. Sheng Li Xue Bao 60: 175-180
-
(2008)
Sheng Li Xue Bao
, vol.60
, pp. 175-180
-
-
Xu, M.1
Wu, Y.M.2
Li, Q.3
Wang, X.4
He, R.R.5
-
70
-
-
41849084086
-
Acute hydrogen sulfide toxicity due to sewer gas exposure
-
518e5-518e7
-
Yalamanchili C, Smith MD (2008) Acute hydrogen sulfide toxicity due to sewer gas exposure. Am J Emerg Med 26: 518.e5-7
-
(2008)
Am J Emerg Med
, vol.26
-
-
Yalamanchili, C.1
Smith, M.D.2
-
71
-
-
9444270380
-
Hydrogen sulfide-induced apoptosis of human aorta smooth muscle cells via the activation of mitogen-activated protein kinases and caspase-3
-
Yang G, Sun X, Wang R (2004) Hydrogen sulfide-induced apoptosis of human aorta smooth muscle cells via the activation of mitogen-activated protein kinases and caspase-3. FASEB J 18: 1782-1784
-
(2004)
FASEB J
, vol.18
, pp. 1782-1784
-
-
Yang, G.1
Sun, X.2
Wang, R.3
-
72
-
-
33947197640
-
Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis
-
Yavuz H, Ozel A, Christensen M, Christensen E, Schwartz M, Elmaci M, Vissing J (2007) Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis. Arch Neurol 64: 435-438
-
(2007)
Arch Neurol
, vol.64
, pp. 435-438
-
-
Yavuz, H.1
Ozel, A.2
Christensen, M.3
Christensen, E.4
Schwartz, M.5
Elmaci, M.6
Vissing, J.7
|