-
1
-
-
0000167774
-
Disorders of transsulfuration
-
McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K. Kinzler, B. Vogelstein (Eds.)
-
Mudd S.H., Levy H.L., Kraus J.P. Disorders of transsulfuration. The Metabolic and Molecular Bases of Inherited Disease 2001, 2007-2056. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, K. Kinzler, B. Vogelstein (Eds.).
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2007-2056
-
-
Mudd, S.H.1
Levy, H.L.2
Kraus, J.P.3
-
2
-
-
0013817677
-
Transsulfuration in mammals: microassays and tissue distributions of three enyzmes of the pathway
-
Mudd S.H., Finkelstein J.D., Irreverre F., Laster L. Transsulfuration in mammals: microassays and tissue distributions of three enyzmes of the pathway. J. Biol. Chem. 1965, 240:4382-4392.
-
(1965)
J. Biol. Chem.
, vol.240
, pp. 4382-4392
-
-
Mudd, S.H.1
Finkelstein, J.D.2
Irreverre, F.3
Laster, L.4
-
3
-
-
3042830639
-
Birth prevalence of homocystinuria
-
Refsum H., Fredriksen A., Meyer K., Ueland P.M., Kase B.F. Birth prevalence of homocystinuria. J. Pediatr. 2004, 144:830-832.
-
(2004)
J. Pediatr.
, vol.144
, pp. 830-832
-
-
Refsum, H.1
Fredriksen, A.2
Meyer, K.3
Ueland, P.M.4
Kase, B.F.5
-
4
-
-
60249087029
-
Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C> T (p.R369C) in the cystathionine beta-synthase gene
-
Janosik M., Sokolova J., Janosikova B., Krijt J., Klatovska V., Kozich V. Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C> T (p.R369C) in the cystathionine beta-synthase gene. J. Pediatr. 2009, 154:431-437.
-
(2009)
J. Pediatr.
, vol.154
, pp. 431-437
-
-
Janosik, M.1
Sokolova, J.2
Janosikova, B.3
Krijt, J.4
Klatovska, V.5
Kozich, V.6
-
6
-
-
0034971293
-
High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application
-
Linnebank M., Homberger A., Junker R., Nowak-Goettl U., Harms E., Koch H.G. High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application. Thromb. Haemost. 2001, 85:986-988.
-
(2001)
Thromb. Haemost.
, vol.85
, pp. 986-988
-
-
Linnebank, M.1
Homberger, A.2
Junker, R.3
Nowak-Goettl, U.4
Harms, E.5
Koch, H.G.6
-
7
-
-
0028937163
-
Mice deficient in cystathionine β-synthase: animal models for mild and severe homocyst(e)inemia
-
Watanabe M., Osada J., Aratani Y., Kluckman K., Reddick R., Malinow M.R., Maeda N. Mice deficient in cystathionine β-synthase: animal models for mild and severe homocyst(e)inemia. Proc. Natl Acad. Sci. USA 1995, 92:1585-1589.
-
(1995)
Proc. Natl Acad. Sci. USA
, vol.92
, pp. 1585-1589
-
-
Watanabe, M.1
Osada, J.2
Aratani, Y.3
Kluckman, K.4
Reddick, R.5
Malinow, M.R.6
Maeda, N.7
-
8
-
-
0027515431
-
Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism
-
Allen R.H., Stabler S.P., Lindenbaum J. Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism. Metabolism 1993, 42:1448-1460.
-
(1993)
Metabolism
, vol.42
, pp. 1448-1460
-
-
Allen, R.H.1
Stabler, S.P.2
Lindenbaum, J.3
-
9
-
-
0742269630
-
Quantification of serum and urinary S-adenosylmethionine and S-adenosylhomocysteine by stable-isotope-dilution liquid chromatography-mass spectrometry
-
Stabler S.P., Allen R.H. Quantification of serum and urinary S-adenosylmethionine and S-adenosylhomocysteine by stable-isotope-dilution liquid chromatography-mass spectrometry. Clin. Chem. 2004, 50:365-372.
-
(2004)
Clin. Chem.
, vol.50
, pp. 365-372
-
-
Stabler, S.P.1
Allen, R.H.2
-
10
-
-
0019880528
-
A simple method to determine nanogram levels of 4-hydroxyproline in biological tissues
-
Jamall I.S.,, Finelli V.N.,, Que Hee S.S., A simple method to determine nanogram levels of 4-hydroxyproline in biological tissues. Anal. Biochem. 1981, 112:70-75.
-
(1981)
Anal. Biochem.
, vol.112
, pp. 70-75
-
-
Jamall, I.S.1
Finelli, V.N.2
Que Hee, S.S.3
-
11
-
-
0018855540
-
International federation of clinical chemistry. Scientific committee. Expert panel on enzymes. IFCC document stage 2, draft 1; 1979-11-19 with a view to an IFCC recommendation. IFCC methods for the measurement of catalytic concentration of enzymes. Part 3. IFCC method for alanine aminotransferase
-
Bergmeyer H.U., Horder M. International federation of clinical chemistry. Scientific committee. Expert panel on enzymes. IFCC document stage 2, draft 1; 1979-11-19 with a view to an IFCC recommendation. IFCC methods for the measurement of catalytic concentration of enzymes. Part 3. IFCC method for alanine aminotransferase. J. Clin. Chem. Clin. Biochem. 1980, 18:521-534.
-
(1980)
J. Clin. Chem. Clin. Biochem.
, vol.18
, pp. 521-534
-
-
Bergmeyer, H.U.1
Horder, M.2
-
12
-
-
33845261493
-
A rapid method of total lipid extraction and purification
-
Bligh E.G., Dyer W.J. A rapid method of total lipid extraction and purification. Can. J. Biochem. Physiol. 1959, 37:911-917.
-
(1959)
Can. J. Biochem. Physiol.
, vol.37
, pp. 911-917
-
-
Bligh, E.G.1
Dyer, W.J.2
-
13
-
-
0035075412
-
A tail vein bleeding time model and delayed bleeding in hemophiliac mice
-
Broze G.J., Yin Z.F., Lasky N. A tail vein bleeding time model and delayed bleeding in hemophiliac mice. Thromb. Haemost. 2001, 85:747-748.
-
(2001)
Thromb. Haemost.
, vol.85
, pp. 747-748
-
-
Broze, G.J.1
Yin, Z.F.2
Lasky, N.3
-
15
-
-
33750207381
-
Cystathionine beta-synthase is essential for female reproductive function
-
Guzman M.A., Navarro M.A., Carnicer R., Sarria A.J., Acin S., Arnal C., Muniesa P., Surra J.C., Arbones-Mainar J.M., Maeda N., Osada J. Cystathionine beta-synthase is essential for female reproductive function. Hum. Mol. Genet. 2006, 15:3168-3176.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 3168-3176
-
-
Guzman, M.A.1
Navarro, M.A.2
Carnicer, R.3
Sarria, A.J.4
Acin, S.5
Arnal, C.6
Muniesa, P.7
Surra, J.C.8
Arbones-Mainar, J.M.9
Maeda, N.10
Osada, J.11
-
16
-
-
12844288099
-
Alcoholic fatty liver: its pathogenesis and mechanism of progression to inflammation and fibrosis
-
Lieber C.S. Alcoholic fatty liver: its pathogenesis and mechanism of progression to inflammation and fibrosis. Alcohol 2004, 34:9-19.
-
(2004)
Alcohol
, vol.34
, pp. 9-19
-
-
Lieber, C.S.1
-
17
-
-
18444416820
-
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations
-
Maclean K.N., Gaustadnes M., Oliveriusova J., Janosik M., Kraus E., Kozich V., Kery V., Skovby F., Rudiger N., Ingerslev J., Stabler S.P., Allen R.H., Kraus J.P. High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. Hum. Mutat. 2002, 19:641-655.
-
(2002)
Hum. Mutat.
, vol.19
, pp. 641-655
-
-
Maclean, K.N.1
Gaustadnes, M.2
Oliveriusova, J.3
Janosik, M.4
Kraus, E.5
Kozich, V.6
Kery, V.7
Skovby, F.8
Rudiger, N.9
Ingerslev, J.10
Stabler, S.P.11
Allen, R.H.12
Kraus, J.P.13
-
18
-
-
0036352764
-
S-adenosylhomocysteine, but not homocysteine, is toxic to yeast lacking cystathionine beta-synthase
-
Christopher S.A., Melnyk S., James S.J., Kruger W.D. S-adenosylhomocysteine, but not homocysteine, is toxic to yeast lacking cystathionine beta-synthase. Mol. Genet. Metab. 2002, 75:335-343.
-
(2002)
Mol. Genet. Metab.
, vol.75
, pp. 335-343
-
-
Christopher, S.A.1
Melnyk, S.2
James, S.J.3
Kruger, W.D.4
-
21
-
-
34548224753
-
Mice lacking cystathionine beta synthase have lung fibrosis and air space enlargement
-
Hamelet J., Maurin N., Fulchiron R., Delabar J.M., Janel N. Mice lacking cystathionine beta synthase have lung fibrosis and air space enlargement. Exp. Mol. Pathol. 2007, 83:249-253.
-
(2007)
Exp. Mol. Pathol.
, vol.83
, pp. 249-253
-
-
Hamelet, J.1
Maurin, N.2
Fulchiron, R.3
Delabar, J.M.4
Janel, N.5
-
22
-
-
11144230938
-
Abnormal lipid metabolism in cystathionine beta-synthase-deficient mice, an animal model for hyperhomocysteinemia
-
Namekata K., Enokido Y., Ishii I., Nagai Y., Harada T., Kimura H. Abnormal lipid metabolism in cystathionine beta-synthase-deficient mice, an animal model for hyperhomocysteinemia. J. Biol. Chem. 2004, 279:52961-52969.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 52961-52969
-
-
Namekata, K.1
Enokido, Y.2
Ishii, I.3
Nagai, Y.4
Harada, T.5
Kimura, H.6
-
23
-
-
34848842170
-
Fibrillin-rich microfibrils: structural determinants of morphogenetic and homeostatic events
-
Ramirez F., Dietz H.C. Fibrillin-rich microfibrils: structural determinants of morphogenetic and homeostatic events. J. Cell. Physiol. 2007, 213:326-330.
-
(2007)
J. Cell. Physiol.
, vol.213
, pp. 326-330
-
-
Ramirez, F.1
Dietz, H.C.2
-
24
-
-
74149085153
-
-
Oxidative stress and glutathione in TGF-beta-mediated fibrogenesis, Free Radic. Biol. Med.
-
R.M. Liu, K.A. Gaston Pravia, Oxidative stress and glutathione in TGF-beta-mediated fibrogenesis, Free Radic. Biol. Med. 48 (1) (2010) 1-15.
-
(2010)
, vol.48
, Issue.1
, pp. 1-15
-
-
Liu, R.M.1
Gaston Pravia, K.A.2
-
25
-
-
0034834208
-
Betaine, a promising new agent for patients with nonalcoholic steatohepatitis: results of a pilot study
-
Abdelmalek M.F., Angulo P., Jorgensen R.A., Sylvestre P.B., Lindor K.D. Betaine, a promising new agent for patients with nonalcoholic steatohepatitis: results of a pilot study. Am. J. Gastroenterol. 2001, 96:2711-2717.
-
(2001)
Am. J. Gastroenterol.
, vol.96
, pp. 2711-2717
-
-
Abdelmalek, M.F.1
Angulo, P.2
Jorgensen, R.A.3
Sylvestre, P.B.4
Lindor, K.D.5
-
26
-
-
0030886805
-
The effect of betaine in reversing alcoholic steatosis
-
Barak A.J., Beckenhauer H.C., Badakhsh S., Tuma D.J. The effect of betaine in reversing alcoholic steatosis. Alcohol. Clin. Exp. Res. 1997, 21:1100-1102.
-
(1997)
Alcohol. Clin. Exp. Res.
, vol.21
, pp. 1100-1102
-
-
Barak, A.J.1
Beckenhauer, H.C.2
Badakhsh, S.3
Tuma, D.J.4
-
27
-
-
0043069841
-
Inhibition of liver trans-sulphuration pathway by propargylglycine mimics gene expression changes found in the mammary gland of weaned lactating rats: role of glutathione
-
Zaragoza R., Garcia C., Rus A.D., Pallardo F.V., Barber T., Torres L., Miralles V.J., Vina J.R. Inhibition of liver trans-sulphuration pathway by propargylglycine mimics gene expression changes found in the mammary gland of weaned lactating rats: role of glutathione. Biochem. J. 2003, 373:825-834.
-
(2003)
Biochem. J.
, vol.373
, pp. 825-834
-
-
Zaragoza, R.1
Garcia, C.2
Rus, A.D.3
Pallardo, F.V.4
Barber, T.5
Torres, L.6
Miralles, V.J.7
Vina, J.R.8
-
28
-
-
0030463010
-
Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid
-
Rosenquist T.H., Ratashak S.A., Selhub J. Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid. Proc. Natl Acad. Sci. USA 1996, 93:15227-15232.
-
(1996)
Proc. Natl Acad. Sci. USA
, vol.93
, pp. 15227-15232
-
-
Rosenquist, T.H.1
Ratashak, S.A.2
Selhub, J.3
-
29
-
-
33748335627
-
Liver choline dehydrogenase and kidney betaine-homocysteine methyltransferase expression are not affected by methionine or choline intake in growing rats
-
Slow S., Garrow T.A. Liver choline dehydrogenase and kidney betaine-homocysteine methyltransferase expression are not affected by methionine or choline intake in growing rats. J. Nutr. 2006, 136:2279-2283.
-
(2006)
J. Nutr.
, vol.136
, pp. 2279-2283
-
-
Slow, S.1
Garrow, T.A.2
-
30
-
-
0033658966
-
Reduced mRNA abundance of the main enzymes involved in methionine metabolism in human liver cirrhosis and hepatocellular carcinoma
-
Avila M.A., Berasain C., Torres L., Martin-Duce A., Corrales F.J., Yang H., Prieto J., Lu S.C., Caballeria J., Rodes J., Mato J.M. Reduced mRNA abundance of the main enzymes involved in methionine metabolism in human liver cirrhosis and hepatocellular carcinoma. J. Hepatol. 2000, 33:907-914.
-
(2000)
J. Hepatol.
, vol.33
, pp. 907-914
-
-
Avila, M.A.1
Berasain, C.2
Torres, L.3
Martin-Duce, A.4
Corrales, F.J.5
Yang, H.6
Prieto, J.7
Lu, S.C.8
Caballeria, J.9
Rodes, J.10
Mato, J.M.11
-
31
-
-
45749150751
-
Genetic background conversion ameliorates semi-lethality and permits behavioral analyses in cystathionine beta-synthase-deficient mice, an animal model for hyperhomocysteinemia
-
Akahoshi N., Kobayashi C., Ishizaki Y., Izumi T., Himi T., Suematsu M., Ishii I. Genetic background conversion ameliorates semi-lethality and permits behavioral analyses in cystathionine beta-synthase-deficient mice, an animal model for hyperhomocysteinemia. Hum. Mol. Genet. 2008, 17:1994-2005.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 1994-2005
-
-
Akahoshi, N.1
Kobayashi, C.2
Ishizaki, Y.3
Izumi, T.4
Himi, T.5
Suematsu, M.6
Ishii, I.7
|