-
2
-
-
0027267693
-
New tetrahydrobiopterin-dependent systems
-
Kaufman S. New tetrahydrobiopterin-dependent systems. Annu. Rev. Nutr. 13:1993;261-286.
-
(1993)
Annu. Rev. Nutr.
, vol.13
, pp. 261-286
-
-
Kaufman, S.1
-
3
-
-
0031975285
-
Glyceryl-ether monooxygenase [EC 1.14.16.5]. A microsomal enzyme of ether lipid metabolism
-
Taguchi H., Armarego W.L. Glyceryl-ether monooxygenase [EC 1.14.16.5]. A microsomal enzyme of ether lipid metabolism. Med. Res. Rev. 18:1998;43-89.
-
(1998)
Med. Res. Rev.
, vol.18
, pp. 43-89
-
-
Taguchi, H.1
Armarego, W.L.2
-
4
-
-
0000138089
-
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, & B. Vogelstein. New York: McGraw-Hill
-
Blau N., Thöny B., Cotton R.G.H., Hyland K. Scriver C.R., Beaudet A.L., Sly W.S., Valle D., Vogelstein B. The Metabolic and Molecular Bases of Inherited Disease. vol. 8th ed. 2001;1725-1776 McGraw-Hill, New York.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.8
, pp. 1725-1776
-
-
Blau, N.1
Thöny, B.2
Cotton, R.G.H.3
Hyland, K.4
-
5
-
-
0036328426
-
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency
-
Zorzi G., Thöny B., Blau N. Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency. J. Neurochem. 80:2002;362-364.
-
(2002)
J. Neurochem.
, vol.80
, pp. 362-364
-
-
Zorzi, G.1
Thöny, B.2
Blau, N.3
-
6
-
-
0034176921
-
Tetrahydrobiopterin biosynthesis, regeneration, and functions
-
Thöny B., Auerbach G., Blau N. Tetrahydrobiopterin biosynthesis, regeneration, and functions. Biochem. J. 347:2000;1-16.
-
(2000)
Biochem. J.
, vol.347
, pp. 1-16
-
-
Thöny, B.1
Auerbach, G.2
Blau, N.3
-
7
-
-
0034788778
-
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency
-
Blau N., Bonafe L., Thöny B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol. Genet. Metab. 74:2001;172-185.
-
(2001)
Mol. Genet. Metab.
, vol.74
, pp. 172-185
-
-
Blau, N.1
Bonafe, L.2
Thöny, B.3
-
8
-
-
0019409760
-
Eggs: Conveniently packaged antibodies. Methods for purification of yolk IgG
-
Jensenius J.C., Andersen I., Hau J., Crone M., Koch C. Eggs: conveniently packaged antibodies. Methods for purification of yolk IgG. J. Immunol. Methods. 46:1981;63-68.
-
(1981)
J. Immunol. Methods
, vol.46
, pp. 63-68
-
-
Jensenius, J.C.1
Andersen, I.2
Hau, J.3
Crone, M.4
Koch, C.5
-
10
-
-
0020201750
-
Color modification of diaminobenzidine (DAB) precipitation by metallic ions and its application for double immunohistochemistry
-
Hsu S.M., Soban E. Color modification of diaminobenzidine (DAB) precipitation by metallic ions and its application for double immunohistochemistry. J. Histochem. Cytochem. 30:1982;1079-1082.
-
(1982)
J. Histochem. Cytochem.
, vol.30
, pp. 1079-1082
-
-
Hsu, S.M.1
Soban, E.2
-
11
-
-
0041344529
-
Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin
-
Elzaouk L., Leimbacher W., Turri M., Ledermann B., Burki K., Blau N., Thöny B. Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin. J. Biol. Chem. 278:2003;28303-28311.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 28303-28311
-
-
Elzaouk, L.1
Leimbacher, W.2
Turri, M.3
Ledermann, B.4
Burki, K.5
Blau, N.6
Thöny, B.7
-
12
-
-
0026657631
-
Multiple mRNA forms of human GTP cyclohydrolase I
-
Togari A., Ichinose H., Matsumoto S., Fujita K., Nagatsu T. Multiple mRNA forms of human GTP cyclohydrolase I. Biochem. Biophys. Res. Commun. 187:1992;359-365.
-
(1992)
Biochem. Biophys. Res. Commun.
, vol.187
, pp. 359-365
-
-
Togari, A.1
Ichinose, H.2
Matsumoto, S.3
Fujita, K.4
Nagatsu, T.5
-
13
-
-
0027982026
-
Human GTP cyclohydrolase I: Only one out of three cDNA isoforms gives rise to the active enzyme
-
Gütlich M., Jaeger E., Rucknagel K.P., Werner T., Rodl W., Ziegler I., Bacher A. Human GTP cyclohydrolase I: only one out of three cDNA isoforms gives rise to the active enzyme. Biochem. J. 302:1994;215-221.
-
(1994)
Biochem. J.
, vol.302
, pp. 215-221
-
-
Gütlich, M.1
Jaeger, E.2
Rucknagel, K.P.3
Werner, T.4
Rodl, W.5
Ziegler, I.6
Bacher, A.7
-
14
-
-
0027055974
-
Human 6-pyruvoyl-tetrahydropterin synthase: CDNA cloning and heterologous expression of the recombinant enzyme
-
Thöny B., Leimbacher W., Bürgisser D., Heizmann C.W. Human 6-pyruvoyl-tetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme. Biochem. Biophys. Res. Commun. 189:1992;1437-1443.
-
(1992)
Biochem. Biophys. Res. Commun.
, vol.189
, pp. 1437-1443
-
-
Thöny, B.1
Leimbacher, W.2
Bürgisser, D.3
Heizmann, C.W.4
-
15
-
-
0025945198
-
Cloning and sequencing of cDNA encoding human sepiapterin reductase - An enzyme involved in tetrahydrobiopterin biosynthesis
-
Ichinose H., Katoh S., Sueoka T., Titani K., Fujita K., Nagatsu T. Cloning and sequencing of cDNA encoding human sepiapterin reductase - an enzyme involved in tetrahydrobiopterin biosynthesis. Biochem. Biophys. Res. Commun. 179:1991;183-189.
-
(1991)
Biochem. Biophys. Res. Commun.
, vol.179
, pp. 183-189
-
-
Ichinose, H.1
Katoh, S.2
Sueoka, T.3
Titani, K.4
Fujita, K.5
Nagatsu, T.6
-
16
-
-
0029639819
-
Structural and functional consequences of mutations in 6-pyruvoyl-tetrahydropterin synthase causing hyperphenylalaninemia in humans - Phosphorylation is a requirement for in vivo activity
-
Oppliger T., Thöny B., Nar H., Bürgisser D., Huber R., Heizmann C.W., Blau N. Structural and functional consequences of mutations in 6-pyruvoyl-tetrahydropterin synthase causing hyperphenylalaninemia in humans - phosphorylation is a requirement for in vivo activity. J. Biol. Chem. 270:1995;29498-29506.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 29498-29506
-
-
Oppliger, T.1
Thöny, B.2
Nar, H.3
Bürgisser, D.4
Huber, R.5
Heizmann, C.W.6
Blau, N.7
-
17
-
-
0014949207
-
Cleavage of structural proteins during the assembly of the head of bacteriophage T4
-
Laemmli U.K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature. 227:1970;680-685.
-
(1970)
Nature
, vol.227
, pp. 680-685
-
-
Laemmli, U.K.1
-
18
-
-
0028151448
-
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
-
Ichinose H., Ohye T., Takahashi E., Seki N., Hori T., Segawa M., Nomura Y., Endo K., Tanaka H., Tsuji S.et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat. Genet. 8:1994;236-242.
-
(1994)
Nat. Genet.
, vol.8
, pp. 236-242
-
-
Ichinose, H.1
Ohye, T.2
Takahashi, E.3
Seki, N.4
Hori, T.5
Segawa, M.6
Nomura, Y.7
Endo, K.8
Tanaka, H.9
Tsuji, S.10
-
19
-
-
0028280353
-
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: Molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase
-
Thony B., Leimbacher W., Blau N., Harvie A., Heizmann C.W. Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. Am. J. Hum. Genet. 54:1994;782-792.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 782-792
-
-
Thony, B.1
Leimbacher, W.2
Blau, N.3
Harvie, A.4
Heizmann, C.W.5
-
20
-
-
0023933988
-
Sepiapterin reductase in human amniotic and skin fibroblasts, chorionic villi, and various blood fractions
-
Ferre J., Naylor E.W. Sepiapterin reductase in human amniotic and skin fibroblasts, chorionic villi, and various blood fractions. Clin. Chim. Acta. 174:1988;271-282.
-
(1988)
Clin. Chim. Acta
, vol.174
, pp. 271-282
-
-
Ferre, J.1
Naylor, E.W.2
-
21
-
-
0021287787
-
High-performance liquid chromatography with column switching for the analysis of biogenic amine metabolites and pterins
-
Niederwieser A., Staudenmann W., Wetzel E. High-performance liquid chromatography with column switching for the analysis of biogenic amine metabolites and pterins. J. Chromatogr. 290:1984;237-246.
-
(1984)
J. Chromatogr.
, vol.290
, pp. 237-246
-
-
Niederwieser, A.1
Staudenmann, W.2
Wetzel, E.3
-
22
-
-
0030594808
-
High-performance liquid chromatography methods for the quantification of tetrahydrobiopterin biosynthetic enzymes
-
Werner E.R., Werner-Felmayer G., Wachter H. High-performance liquid chromatography methods for the quantification of tetrahydrobiopterin biosynthetic enzymes. J. Chromatogr. 684:1996;51-58.
-
(1996)
J. Chromatogr.
, vol.684
, pp. 51-58
-
-
Werner, E.R.1
Werner-Felmayer, G.2
Wachter, H.3
-
23
-
-
0021716406
-
A short amino acid sequence able to specify nuclear location
-
Kalderon D., Roberts B.L., Richardson W.D., Smith A.E. A short amino acid sequence able to specify nuclear location. Cell. 39:1984;499-509.
-
(1984)
Cell
, vol.39
, pp. 499-509
-
-
Kalderon, D.1
Roberts, B.L.2
Richardson, W.D.3
Smith, A.E.4
-
24
-
-
0030854866
-
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families
-
Oppliger T., Thöny B., Kluge C., Matasovic A., Heizmann C.W., Ponzone A., Spada M., Blau N. Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. Human Mutat. 10:1997;25-35.
-
(1997)
Human Mutat.
, vol.10
, pp. 25-35
-
-
Oppliger, T.1
Thöny, B.2
Kluge, C.3
Matasovic, A.4
Heizmann, C.W.5
Ponzone, A.6
Spada, M.7
Blau, N.8
-
25
-
-
0033020992
-
Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia
-
Scherer-Oppliger T., Matasovic A., Laufs S., Levy H.L., Quackenbush E.J., Blau N., Thöny B. Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia. Human Mutat. 13:1999;286-289.
-
(1999)
Human Mutat.
, vol.13
, pp. 286-289
-
-
Scherer-Oppliger, T.1
Matasovic, A.2
Laufs, S.3
Levy, H.L.4
Quackenbush, E.J.5
Blau, N.6
Thöny, B.7
-
26
-
-
0033948869
-
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS
-
Blau N., Scherer-Oppliger T., Baumer A., Riegel M., Matasovic A., Schinzel A., Jaeken J., Thony B. Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. Human Mutat. 16:2000;54-60.
-
(2000)
Human Mutat.
, vol.16
, pp. 54-60
-
-
Blau, N.1
Scherer-Oppliger, T.2
Baumer, A.3
Riegel, M.4
Matasovic, A.5
Schinzel, A.6
Jaeken, J.7
Thony, B.8
-
27
-
-
0032211806
-
Fyn, a Src family tyrosine kinase
-
Resh M.D. Fyn, a Src family tyrosine kinase. Int. J. Biochem. Cell Biol. 30:1998;1159-1162.
-
(1998)
Int. J. Biochem. Cell Biol.
, vol.30
, pp. 1159-1162
-
-
Resh, M.D.1
-
28
-
-
0027230738
-
Chemical modifications of proteins in vivo: Selected examples important to cellular regulation
-
Rucker R.B., McGee C. Chemical modifications of proteins in vivo: selected examples important to cellular regulation. J. Nutr. 123:1993;977-990.
-
(1993)
J. Nutr.
, vol.123
, pp. 977-990
-
-
Rucker, R.B.1
McGee, C.2
-
30
-
-
0032983657
-
Immunohistochemical localisation of pterin-4alpha-carbinolamine dehydratase in rat peripheral organs
-
Resibois A., Cuvelier L., Svoboda M., Heizmann C.W., Thony B. Immunohistochemical localisation of pterin-4alpha-carbinolamine dehydratase in rat peripheral organs. Histochem. Cell Biol. 111:1999;381-390.
-
(1999)
Histochem. Cell Biol.
, vol.111
, pp. 381-390
-
-
Resibois, A.1
Cuvelier, L.2
Svoboda, M.3
Heizmann, C.W.4
Thony, B.5
-
31
-
-
0033968240
-
Pterin-4alpha-carbinolamine dehydratase in rat brain: I. Patterns of co-localization with tyrosine hydroxylase
-
Depaepe V., Cuvelier L., Thony B., Resibois A. Pterin-4alpha- carbinolamine dehydratase in rat brain: I. Patterns of co-localization with tyrosine hydroxylase. Brain Res. Mol. Brain Res. 75:2000;76-88.
-
(2000)
Brain Res. Mol. Brain Res.
, vol.75
, pp. 76-88
-
-
Depaepe, V.1
Cuvelier, L.2
Thony, B.3
Resibois, A.4
-
32
-
-
0029644947
-
PCD/DCoH: More than a second molecular saddle
-
Kim J.L., Burley S.K. PCD/DCoH: more than a second molecular saddle. Curr. Biol. 3:1995;531-534.
-
(1995)
Curr. Biol.
, vol.3
, pp. 531-534
-
-
Kim, J.L.1
Burley, S.K.2
-
33
-
-
0030600140
-
Structure and function of PCD/DCoH, an enzyme with regulatory properties
-
Suck D., Ficner R. Structure and function of PCD/DCoH, an enzyme with regulatory properties. FEBS Lett. 389:1996;35-39.
-
(1996)
FEBS Lett.
, vol.389
, pp. 35-39
-
-
Suck, D.1
Ficner, R.2
-
34
-
-
0035798563
-
Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvoyltetrahydropterin synthase knockout mice
-
Sumi-Ichinose C., Urano F., Kuroda R., Ohye T., Kojima M., Tazawa M., Shiraishi H., Hagino Y., Nagatsu T., Nomura T., Ichinose H. Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvoyltetrahydropterin synthase knockout mice. J. Biol. Chem. 276:2001;41150-41160.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 41150-41160
-
-
Sumi-Ichinose, C.1
Urano, F.2
Kuroda, R.3
Ohye, T.4
Kojima, M.5
Tazawa, M.6
Shiraishi, H.7
Hagino, Y.8
Nagatsu, T.9
Nomura, T.10
Ichinose, H.11
-
35
-
-
0028264849
-
Three-dimensional structure of 6-pyruvoyl tetrahydropterin synthase, an enzyme involved in tetrahydrobiopterin biosynthesis
-
Nar H., Huber R., Heizmann C.W., Thöny B., Bürgisser D. Three-dimensional structure of 6-pyruvoyl tetrahydropterin synthase, an enzyme involved in tetrahydrobiopterin biosynthesis. EMBO J. 13:1994;1255-1262.
-
(1994)
EMBO J.
, vol.13
, pp. 1255-1262
-
-
Nar, H.1
Huber, R.2
Heizmann, C.W.3
Thöny, B.4
Bürgisser, D.5
-
36
-
-
0033279841
-
Transport between the cell nucleus and the cytoplasm
-
Gorlich D., Kutay U. Transport between the cell nucleus and the cytoplasm. Annu. Rev. Cell. Dev. Biol. 15:1999;607-660.
-
(1999)
Annu. Rev. Cell. Dev. Biol.
, vol.15
, pp. 607-660
-
-
Gorlich, D.1
Kutay, U.2
-
37
-
-
0025701095
-
Control of tetrahydrobiopterin synthesis in T lymphocytes by synergistic action of interferon-gamma and interleukin-2
-
Ziegler I., Schott K., Lubbert M., Herrmann F., Schwulera U., Bacher A. Control of tetrahydrobiopterin synthesis in T lymphocytes by synergistic action of interferon-gamma and interleukin-2. J. Biol. Chem. 265:1990;17026-17030.
-
(1990)
J. Biol. Chem.
, vol.265
, pp. 17026-17030
-
-
Ziegler, I.1
Schott, K.2
Lubbert, M.3
Herrmann, F.4
Schwulera, U.5
Bacher, A.6
-
38
-
-
0032573121
-
Regulation of 6-pyruvoyltetrahydropterin synthase activity and messenger RNA abundance in human vascular endothelial cells
-
Linscheid P., Schaffner A., Blau N., Schoedon G. Regulation of 6-pyruvoyltetrahydropterin synthase activity and messenger RNA abundance in human vascular endothelial cells. Circulation. 98:1998;1703-1706.
-
(1998)
Circulation
, vol.98
, pp. 1703-1706
-
-
Linscheid, P.1
Schaffner, A.2
Blau, N.3
Schoedon, G.4
-
39
-
-
0042569095
-
The low tetrahydrobiopterin biosynthetic capacity of human monocytes is caused by exon skipping in 6-pyruvoyl tetrahydropterin synthase
-
Leitner K.L., Meyer M., Leimbacher W., Peterbauer A., Hofer S., Heufler C., Muller A., Heller R., Werner E.R., Thony B., Werner-Felmayer G. The low tetrahydrobiopterin biosynthetic capacity of human monocytes is caused by exon skipping in 6-pyruvoyl tetrahydropterin synthase. Biochem. J. 373:2003;681-688.
-
(2003)
Biochem. J.
, vol.373
, pp. 681-688
-
-
Leitner, K.L.1
Meyer, M.2
Leimbacher, W.3
Peterbauer, A.4
Hofer, S.5
Heufler, C.6
Muller, A.7
Heller, R.8
Werner, E.R.9
Thony, B.10
Werner-Felmayer, G.11
-
40
-
-
0032146749
-
Leptomycin B inhibition of signal-mediated nuclear export by direct binding to CRM1
-
Kudo N., Wolff B., Sekimoto T., Schreiner E.P., Yoneda Y., Yanagida M., Horinouchi S., Yoshida M. Leptomycin B inhibition of signal-mediated nuclear export by direct binding to CRM1. Exp. Cell Res. 242:1998;540-547.
-
(1998)
Exp. Cell Res.
, vol.242
, pp. 540-547
-
-
Kudo, N.1
Wolff, B.2
Sekimoto, T.3
Schreiner, E.P.4
Yoneda, Y.5
Yanagida, M.6
Horinouchi, S.7
Yoshida, M.8
-
41
-
-
0035138160
-
The balance of nuclear import and export determines the intracellular distribution and function of tomato heat stress transcription factor HsfA2
-
Heerklotz D., Doring P., Bonzelius F., Winkelhaus S., Nover L. The balance of nuclear import and export determines the intracellular distribution and function of tomato heat stress transcription factor HsfA2. Mol. Cell. Biol. 21:2001;1759-1768.
-
(2001)
Mol. Cell. Biol.
, vol.21
, pp. 1759-1768
-
-
Heerklotz, D.1
Doring, P.2
Bonzelius, F.3
Winkelhaus, S.4
Nover, L.5
-
42
-
-
0028568416
-
A maternal product of the Punch locus of Drosophila melanogaster is required for precellular blastoderm nuclear divisions
-
Chen X., Reynolds E.R., Ranganayakulu G., O'Donnell J.M. A maternal product of the Punch locus of Drosophila melanogaster is required for precellular blastoderm nuclear divisions. J. Cell Sci. 107(Pt. 12):1994;3501-3513.
-
(1994)
J. Cell Sci.
, vol.107
, Issue.PT. 12
, pp. 3501-3513
-
-
Chen, X.1
Reynolds, E.R.2
Ranganayakulu, G.3
O'Donnell, J.M.4
|