-
1
-
-
0025792004
-
New clinical phenotype of branched-chain acyl-CoA oxidation defect
-
Burlina, A. et al. New clinical phenotype of branched-chain acyl-CoA oxidation defect. Lancet 338, 1522-1523 (1991).
-
(1991)
Lancet
, vol.338
, pp. 1522-1523
-
-
Burlina, A.1
-
2
-
-
58149208248
-
Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency
-
Garcia-Silva, M.T. et al. Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency. J. Pediatr. 125, 843-844 (1994).
-
(1994)
J. Pediatr
, vol.125
, pp. 843-844
-
-
Garcia-Silva, M.T.1
-
3
-
-
6844258223
-
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: One of the variant alleles, 511C → T, is present at an unexpectedly high frequency in the general population, as was the case for 625G → A, together conferring susceptibility to ethylmalonic aciduria
-
Gregersen, N. et al. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C → T, is present at an unexpectedly high frequency in the general population, as was the case for 625G → A, together conferring susceptibility to ethylmalonic aciduria. Hum. Mol. Genet. 7, 619-627 (1998).
-
(1998)
Hum. Mol. Genet
, vol.7
, pp. 619-627
-
-
Gregersen, N.1
-
4
-
-
10744220582
-
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening
-
Koeberl, D.D. et al. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr. Res. 54, 219-223 (2003).
-
(2003)
Pediatr. Res
, vol.54
, pp. 219-223
-
-
Koeberl, D.D.1
-
5
-
-
37049001052
-
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism
-
Sass, J.O. et al. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. Mol. Genet. Metab. 93, 30-35 (2008).
-
(2008)
Mol. Genet. Metab
, vol.93
, pp. 30-35
-
-
Sass, J.O.1
-
6
-
-
33646533134
-
Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity
-
Vockley, J. & Ensenauer, R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am. J. Med. Genet. C. Semin.Med. Genet. 142C, 95-103 (2006).
-
(2006)
Am. J. Med. Genet. C. Semin.Med. Genet
, vol.142 C
, pp. 95-103
-
-
Vockley, J.1
Ensenauer, R.2
-
7
-
-
10744232283
-
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein
-
Tiranti, V. et al. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am. J. Hum. Genet. 74, 239-252 (2004).
-
(2004)
Am. J. Hum. Genet
, vol.74
, pp. 239-252
-
-
Tiranti, V.1
-
8
-
-
33645758448
-
ETHE1 mutations are specific to ethylmalonic encephalopathy
-
Tiranti, V. et al. ETHE1 mutations are specific to ethylmalonic encephalopathy. J. Med. Genet. 43, 340-346 (2006).
-
(2006)
J. Med. Genet
, vol.43
, pp. 340-346
-
-
Tiranti, V.1
-
9
-
-
47149107953
-
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
-
Mineri, R. et al. 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).
-
(2008)
J. Med. Genet
, vol.45
, pp. 473-478
-
-
Mineri, R.1
-
10
-
-
0035839131
-
Expansion of the zinc metallo-hydrolase family of the β-lactamase fold
-
Daiyasu, H., Osaka, K., Ishino, Y. & Toh, H. Expansion of the zinc metallo-hydrolase family of the β-lactamase fold. FEBS Lett. 503, 1-6 (2001).
-
(2001)
FEBS Lett
, vol.503
, pp. 1-6
-
-
Daiyasu, H.1
Osaka, K.2
Ishino, Y.3
Toh, H.4
-
11
-
-
0036782443
-
A novel protein overexpressed in hepatoma accelerates export of NF-κB from the nucleus and inhibits p53-dependent apoptosis
-
Higashitsuji, H. et al. A novel protein overexpressed in hepatoma accelerates export of NF-κB from the nucleus and inhibits p53-dependent apoptosis. Cancer Cell 2, 335-346 (2002).
-
(2002)
Cancer Cell
, vol.2
, pp. 335-346
-
-
Higashitsuji, H.1
-
12
-
-
34250357227
-
Enhanced deacetylation of p53 by the anti-apoptotic protein HSCO in association with histone deacetylase 1
-
Higashitsuji, H. et al. Enhanced deacetylation of p53 by the anti-apoptotic protein HSCO in association with histone deacetylase 1. J. Biol. Chem. 282, 13716-13725 (2007).
-
(2007)
J. Biol. Chem
, vol.282
, pp. 13716-13725
-
-
Higashitsuji, H.1
-
13
-
-
34249681337
-
-
Bensaad, K. & Vousden, K.H. p53: new roles in metabolism. Trends Cell Biol. 17, 286-291 (2007).
-
Bensaad, K. & Vousden, K.H. p53: new roles in metabolism. Trends Cell Biol. 17, 286-291 (2007).
-
-
-
-
14
-
-
38049010435
-
Nuclear receptors and other nuclear transcription factors in mitochondria: Regulatory molecules in a new environment
-
Psarra, A.M. & Sekeris, C.E. Nuclear receptors and other nuclear transcription factors in mitochondria: regulatory molecules in a new environment. Biochim. Biophys. Acta 1783, 1-11 (2008).
-
(2008)
Biochim. Biophys. Acta
, vol.1783
, pp. 1-11
-
-
Psarra, A.M.1
Sekeris, C.E.2
-
15
-
-
33748339794
-
Structure of an ETHE1-like protein from Arabidopsis thaliana
-
McCoy, J.G. et al. Structure of an ETHE1-like protein from Arabidopsis thaliana. Acta Crystallogr. D Biol. Crystallogr. 62, 964-970 (2006).
-
(2006)
Acta Crystallogr. D Biol. Crystallogr
, vol.62
, pp. 964-970
-
-
McCoy, J.G.1
-
16
-
-
35748959038
-
Hydrogen sulphide and its therapeutic potential
-
Szabo, C. Hydrogen sulphide and its therapeutic potential. Nat. Rev. Drug Discov. 6, 917-935 (2007).
-
(2007)
Nat. Rev. Drug Discov
, vol.6
, pp. 917-935
-
-
Szabo, C.1
-
17
-
-
24344485617
-
Adaptative metabolic response of human colonic epithelial cells to the adverse effects of the luminal compound sulfide
-
Leschelle, X. et al. Adaptative metabolic response of human colonic epithelial cells to the adverse effects of the luminal compound sulfide. Biochim. Biophys. Acta 1725, 201-212 (2005).
-
(2005)
Biochim. Biophys. Acta
, vol.1725
, pp. 201-212
-
-
Leschelle, X.1
-
18
-
-
0036146130
-
Cytochrome oxidase inhibition induced by acute hydrogen sulfide inhalation: Correlation with tissue sulfide concentrations in the rat brain, liver, lung, and nasal epithelium
-
Dorman, D.C. et al. Cytochrome oxidase inhibition induced by acute hydrogen sulfide inhalation: correlation with tissue sulfide concentrations in the rat brain, liver, lung, and nasal epithelium. Toxicol. Sci. 65, 18-25 (2002).
-
(2002)
Toxicol. Sci
, vol.65
, pp. 18-25
-
-
Dorman, D.C.1
-
19
-
-
0343471867
-
Syndrome of Encephalopathy, Petechiae, and Ethylmalonic Aciduria
-
Garcia-Silva, M.T., Ribes, A., Campos, Y., Garavaglia, B. & Arenas, J.A. Syndrome of Encephalopathy, Petechiae, and Ethylmalonic Aciduria. Pediatric Neurology. 17, 165-170 (1997).
-
(1997)
Pediatric Neurology
, vol.17
, pp. 165-170
-
-
Garcia-Silva, M.T.1
Ribes, A.2
Campos, Y.3
Garavaglia, B.4
Arenas, J.A.5
-
20
-
-
0035879968
-
Oxidation of hydrogen sulfide and methanethiol to thiosulfate by rat tissues: A specialized function of the colonic mucosa
-
Furne, J., Springfield, J., Koenig, T., DeMaster, E. & Levitt, M.D. Oxidation of hydrogen sulfide and methanethiol to thiosulfate by rat tissues: a specialized function of the colonic mucosa. Biochem. Pharmacol. 62, 255-259 (2001).
-
(2001)
Biochem. Pharmacol
, vol.62
, pp. 255-259
-
-
Furne, J.1
Springfield, J.2
Koenig, T.3
DeMaster, E.4
Levitt, M.D.5
-
21
-
-
0030799019
-
Colonic sulfide in pathogenesis and treatment of ulcerative colitis
-
Roediger, W.E., Moore, J. & Babidge, W. Colonic sulfide in pathogenesis and treatment of ulcerative colitis. Dig. Dis. Sci. 42, 1571-1579 (1997).
-
(1997)
Dig. Dis. Sci
, vol.42
, pp. 1571-1579
-
-
Roediger, W.E.1
Moore, J.2
Babidge, W.3
-
22
-
-
44949214775
-
Three enzymatic activities catalyze the oxidation of sulfide to thiosulfate in mammalian and invertebrate mitochondria
-
Hildebrandt, T.M. & Grieshaber, M.K. Three enzymatic activities catalyze the oxidation of sulfide to thiosulfate in mammalian and invertebrate mitochondria. FEBS J. 275, 3352-3361 (2008).
-
(2008)
FEBS J
, vol.275
, pp. 3352-3361
-
-
Hildebrandt, T.M.1
Grieshaber, M.K.2
-
23
-
-
34249777260
-
Sulfide, the first inorganic substrate for human cells
-
Goubern, M., Andriamihaja, M., Nubel, T., Blachier, F. & Bouillaud, F. Sulfide, the first inorganic substrate for human cells. FASEB J. 21, 1699-1706 (2007).
-
(2007)
FASEB J
, vol.21
, pp. 1699-1706
-
-
Goubern, M.1
Andriamihaja, M.2
Nubel, T.3
Blachier, F.4
Bouillaud, F.5
-
24
-
-
40349111259
-
Sulfide:quinone oxidoreductase (SQR) from the lugworm Arenicola marina shows cyanide- and thioredoxin-dependent activity
-
Theissen, U. & Martin, W. Sulfide:quinone oxidoreductase (SQR) from the lugworm Arenicola marina shows cyanide- and thioredoxin-dependent activity. FEBS J. 275, 1131-1139 (2008).
-
(2008)
FEBS J
, vol.275
, pp. 1131-1139
-
-
Theissen, U.1
Martin, W.2
-
25
-
-
0029187605
-
Effects of protein, methionine, or chloride on acid-base balance and on cysteine catabolism
-
Bella, D.L. & Stipanuk, M.H. Effects of protein, methionine, or chloride on acid-base balance and on cysteine catabolism. Am. J. Physiol. 269, E910-E917 (1995).
-
(1995)
Am. J. Physiol
, vol.269
-
-
Bella, D.L.1
Stipanuk, M.H.2
-
26
-
-
0031048845
-
The human mitochondrial transcription termination factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper interactions
-
Fernandez-Silva, P., Martinez-Azorin, F., Micol, V. & Attardi, G. The human mitochondrial transcription termination factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper interactions. EMBO J. 16, 1066-1079 (1997).
-
(1997)
EMBO J
, vol.16
, pp. 1066-1079
-
-
Fernandez-Silva, P.1
Martinez-Azorin, F.2
Micol, V.3
Attardi, G.4
-
27
-
-
0030943170
-
Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database
-
Tiranti, V. et al. Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database. Hum. Mol. Genet. 6, 615-625 (1997).
-
(1997)
Hum. Mol. Genet
, vol.6
, pp. 615-625
-
-
Tiranti, V.1
-
28
-
-
0034166491
-
Clinical, biochemical and neuroradiological findings in I-2-hydroxyglutaric aciduria
-
Moroni, I., D'Incerti, L., Farina, L., Rimoldi, M. & Uziel, G. Clinical, biochemical and neuroradiological findings in I-2-hydroxyglutaric aciduria. Neurol. Sci. 21, 103-108 (2000).
-
(2000)
Neurol. Sci
, vol.21
, pp. 103-108
-
-
Moroni, I.1
D'Incerti, L.2
Farina, L.3
Rimoldi, M.4
Uziel, G.5
-
29
-
-
0022647220
-
Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase
-
Di Donato, S. et al. Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase. Neurology 36, 957-963 (1986).
-
(1986)
Neurology
, vol.36
, pp. 957-963
-
-
Di Donato, S.1
-
30
-
-
0018757654
-
A simple screening test for sulfite oxidase deficiency: Detection of urinary thiosulfate by a modification of Sorbo's method
-
Shih, V.E., Carney, M.M. & Mandell, R. A simple screening test for sulfite oxidase deficiency: detection of urinary thiosulfate by a modification of Sorbo's method. Clin. Chim. Acta 95, 143-145 (1979).
-
(1979)
Clin. Chim. Acta
, vol.95
, pp. 143-145
-
-
Shih, V.E.1
Carney, M.M.2
Mandell, R.3
-
31
-
-
48749090960
-
Production of the gaseous signal molecule hydrogen sulfide in mouse tissues
-
Linden, D.R. et al. Production of the gaseous signal molecule hydrogen sulfide in mouse tissues. J. Neurochem. 106, 1577-1585 (2008).
-
(2008)
J. Neurochem
, vol.106
, pp. 1577-1585
-
-
Linden, D.R.1
-
32
-
-
57349171934
-
Whole tissue hydrogen sulfide concentrations are orders of magnitude lower than presently accepted values
-
Furne, J., Saeed, A. & Levitt, M.D. Whole tissue hydrogen sulfide concentrations are orders of magnitude lower than presently accepted values. Am. J. Physiol. Regul. Integr. Comp. Physiol. 295, R1479-R1485 (2008).
-
(2008)
Am. J. Physiol. Regul. Integr. Comp. Physiol
, vol.295
-
-
Furne, J.1
Saeed, A.2
Levitt, M.D.3
-
33
-
-
0021126453
-
Glutaric aciduria type II: Biochemical investigation and treatment of a child diagnosed prenatally
-
Bennett, M.J. et al. Glutaric aciduria type II: biochemical investigation and treatment of a child diagnosed prenatally. J. Inherit. Metab. Dis. 7, 57-61 (1984).
-
(1984)
J. Inherit. Metab. Dis
, vol.7
, pp. 57-61
-
-
Bennett, M.J.1
-
34
-
-
0029875973
-
Cytochemistry and immunocytochemistry of mitochondria in tissue sections
-
Sciacco, M. & Bonilla, E. Cytochemistry and immunocytochemistry of mitochondria in tissue sections. Methods Enzymol. 264, 509-521 (1996).
-
(1996)
Methods Enzymol
, vol.264
, pp. 509-521
-
-
Sciacco, M.1
Bonilla, E.2
-
35
-
-
9644275464
-
Clinical and molecular findings in children with complex I deficiency
-
Bugiani, M. et al. Clinical and molecular findings in children with complex I deficiency. Biochim. Biophys. Acta 1659, 136-147 (2004).
-
(2004)
Biochim. Biophys. Acta
, vol.1659
, pp. 136-147
-
-
Bugiani, M.1
-
36
-
-
0014059118
-
An electron-transport system associated with the outer membrane of liver mitochondria. A biochemical and morphological study
-
Sottocasa, G.L., Kuylenstierna, B., Ernster, L. & Bergstrand, A. An electron-transport system associated with the outer membrane of liver mitochondria. A biochemical and morphological study. J. Cell Biol. 32, 415-438 (1967).
-
(1967)
J. Cell Biol
, vol.32
, pp. 415-438
-
-
Sottocasa, G.L.1
Kuylenstierna, B.2
Ernster, L.3
Bergstrand, A.4
-
37
-
-
0023082772
-
Sulfate: Turbidimetric and nephelometric methods
-
Sörbo, B. Sulfate: turbidimetric and nephelometric methods. Methods Enzymol. 143, 3-6 (1987).
-
(1987)
Methods Enzymol
, vol.143
, pp. 3-6
-
-
Sörbo, B.1
-
38
-
-
77957011016
-
Rhodanese
-
Sörbo, B. Rhodanese. Methods Enzymol. 2, 334-337 (1955).
-
(1955)
Methods Enzymol
, vol.2
, pp. 334-337
-
-
Sörbo, B.1
-
39
-
-
33847304164
-
2+-dependent neurodegeneration in Surf1 knockout mice
-
2+-dependent neurodegeneration in Surf1 knockout mice. Hum. Mol. Genet. 16, 431-444 (2007).
-
(2007)
Hum. Mol. Genet
, vol.16
, pp. 431-444
-
-
Dell'Agnello, C.1
|