Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family

Genetics and Molecular Research ◽

10.4238/vol7-3gmr467 ◽

2008 ◽

Vol 7 (3) ◽

pp. 687-694 ◽

Author(s):

C.P. Souza ◽

E.R. Valadares ◽

A.L.C. Trindade ◽

V.L. Rocha ◽

L.R. Oliveira ◽

...

Keyword(s):

Gtp Cyclohydrolase ◽

Segawa Syndrome

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Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp.2004.051664 ◽

2006 ◽

Vol 77 (1) ◽

pp. 18-23 ◽

Author(s):

J L K Van Hove

Keyword(s):

Autosomal Dominant ◽

Gtp Cyclohydrolase ◽

Segawa Syndrome

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GTP-cyclohydrolase I and vitiligo. Viewpoints in dermatology . Correspondence

Clinical and Experimental Dermatology ◽

10.1046/j.1365-2230.2000.00730.x ◽

2000 ◽

Vol 25 (8) ◽

pp. 655-655

Author(s):

K. U. Schallreuter

Keyword(s):

Gtp Cyclohydrolase I ◽

Gtp Cyclohydrolase

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Inhibition of GTP cyclohydrolase enhances intestinal inflammation in mice

Zeitschrift für Gastroenterologie ◽

10.1055/s-0033-1352655 ◽

2013 ◽

Vol 51 (08) ◽

Author(s):

G Pickert ◽

I Tegeder ◽

D Schuppan

Keyword(s):

Intestinal Inflammation ◽

Gtp Cyclohydrolase

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AUTOSOMAL DOMINANT GTP CYCLOHYDROLASE I DEFICIENCY

Neuropediatrics ◽

10.1055/s-2006-943548 ◽

2006 ◽

Vol 37 (S 1) ◽

Author(s):

Y Nomura

Keyword(s):

Autosomal Dominant ◽

Gtp Cyclohydrolase I ◽

Gtp Cyclohydrolase

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Faculty Opinions recommendation of Endotoxemia-related acute kidney injury in transgenic mice with endothelial overexpression of GTP cyclohydrolase-1.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1098896.555057 ◽

2008 ◽

Author(s):

Roland Blantz

Keyword(s):

Acute Kidney Injury ◽

Transgenic Mice ◽

Kidney Injury ◽

Gtp Cyclohydrolase

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ChemInform Abstract: Synthesis of Potential Inhibitors of GTP-Cyclohydrolase I: An Efficient Synthesis of 8-Substituted 7-Deazaguanines.

10.1002/chin.199726187 ◽

2010 ◽

Vol 28 (26) ◽

pp. no-no

Author(s):

C. L. GIBSON ◽

K. PAULINI ◽

C. J. SUCKLING

Keyword(s):

Efficient Synthesis ◽

Gtp Cyclohydrolase I ◽

Gtp Cyclohydrolase ◽

Potential Inhibitors

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Epigenetic silencing of GTP cyclohydrolase 1 promotes hepatocellular carcinoma growth by activating superoxide anion-mediated ASK1/p38 signaling via inhibiting tetrahydrobiopterin de novo biosynthesis

Free Radical Biology and Medicine ◽

10.1016/j.freeradbiomed.2021.03.025 ◽

2021 ◽

Author(s):

Guo-Chao Zhong ◽

Zhi-Bo Zhao ◽

Yao Cheng ◽

Yun-Bing Wang ◽

Chan Qiu ◽

...

Keyword(s):

Hepatocellular Carcinoma ◽

Superoxide Anion ◽

De Novo ◽

Epigenetic Silencing ◽

Gtp Cyclohydrolase ◽

De Novo Biosynthesis

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Purification and characterization of GTP cyclohydrolase I from Drosophila melanogaster.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(17)36114-8 ◽

1986 ◽

Vol 261 (3) ◽

pp. 1453-1458

Author(s):

E P Weisberg ◽

J M O'Donnell

Keyword(s):

Drosophila Melanogaster ◽

Gtp Cyclohydrolase I ◽

Gtp Cyclohydrolase ◽

Purification And Characterization

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Isolation and characterization of GTP cyclohydrolase I from mouse liver. Comparison of normal and the hph-1 mutant

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)98895-2 ◽

1991 ◽

Vol 266 (19) ◽

pp. 12294-12300

Author(s):

K.W. Cha ◽

K.B. Jacobson ◽

J.J. Yim

Keyword(s):

Mouse Liver ◽

Gtp Cyclohydrolase I ◽

Gtp Cyclohydrolase ◽

Isolation And Characterization

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Tetrahydrobiopterin biosynthetic activities in human macrophages, fibroblasts, THP-1, and T 24 cells. GTP-cyclohydrolase I is stimulated by interferon-gamma, and 6-pyruvoyl tetrahydropterin synthase and sepiapterin reductase are constitutively present.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)39752-2 ◽

1990 ◽

Vol 265 (6) ◽

pp. 3189-3192

Author(s):

E R Werner ◽

G Werner-Felmayer ◽

D Fuchs ◽

A Hausen ◽

G Reibnegger ◽

...

Keyword(s):

Interferon Gamma ◽

Gtp Cyclohydrolase I ◽

Gtp Cyclohydrolase ◽

Human Macrophages ◽

Sepiapterin Reductase

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