Results 81 to 90 of about 4,605 (211)

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan

JIMD Reports, 2020
Background Information regarding the prevalence of PKU in the Middle East in comparison to other world regions is scarce, which might be explained by difficulties in the implementation of national newborn screening programs.
Carla Carducci, Wajdi Amayreh, Haneen Ababneh, Amjad Mahasneh, Buthaina Al Rababah, Kefah Al Qaqa, Momen Al Aqeel, Cristiana Artiola, Manuela Tolve, Sirio D'Amici, Nan Shen, Yongguo Yu, Alicia Hillert, Nastassja Himmelreich, Jürgen G. Okun, Georg F. Hoffmann, Nenad Blau   +16 more
doaj   +1 more source

Regulation of GTP cyclohydrolase I gene transcription by basic region leucine zipper transcription factors

, 2005
Tetrahydrobiopterin is an essential cofactor for the phenylalanine, tyrosine and tryptophan hydroxylases, and the family of nitric oxide synthases. The initial and rate-limiting enzyme in the biosynthesis of tetrahydrobiopterin is GTP cyclohydrolase 1 ...
Vinson, C., Al Sarraj, J., 韩家淮, Han, J. H., Thiel, G.   +4 more
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GTP cyclohydrolase I expression, protein, and activity determine intracellular tetrahydrobiopterin levels, independent of GTP cyclohydrolase feedback regulatory protein expression.

, 2009
GTP cyclohydrolase I (GTPCH) is a key enzyme in the synthesis of tetrahydrobiopterin (BH4), a required cofactor for nitricoxide synthases and aromatic amino acid hydroxylases.
Channon, Keith, Warrick, N, Crabtree, MJ, Alp, NJ, Channon, KM, Tatham, AL, Cai, S   +6 more
core   +1 more source

Co-expression of GTP cyclohydrolase I and aminodeoxychorismate synthase from alfalfa improves folate accumulation and plant growth in Lotus corniculatus

Environmental and Experimental Botany
Folate (vitamin B9) is an essential nutrient for livestock. However, natural folate levels in forage crops are often insufficient to meet livestock nutritional requirements.
Shan Feng, Ya-Ping Lin, Yi-Jun Cao, Ai-Ke Bao   +3 more
doaj   +1 more source

GTP cyclohydrolase I utilizes metal-free GTP as its substrate

, 2004
GTP cyclohydrolase I (GCH) is the rate-limiting enzyme for the synthesis of tetrahydrobiopterin and its activity is important in the regulation of monoamine neurotransmitters such as dopamine, norepinephrine and serotonin.
Hiroshi Ichinose, Takahiro Suzuki, Hideki Kurita   +2 more
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Immune activation and inflammation in patients with cardiovascular disease are associated with elevated phenylalanine-to-tyrosine ratios

Pteridines, 2013
Higher serum neopterin concentrations and kynurenine-to-tryptophan (Kyn/Trp) ratios are associated with increased mortality in patients with coronary artery disease (CAD). Preferentially, Th1-type cytokine interferon-γ stimulates tryptophan breakdown and
Mangge Harald, Schnedl Wolfgang J., Schröcksnadel Sebastian, Geisler Simon, Murr Christian, Fuchs Dietmar   +5 more
doaj   +1 more source

HPAanalyze: an R package that facilitates the retrieval and analysis of the Human Protein Atlas data

BMC Bioinformatics, 2019
Background The Human Protein Atlas (HPA) aims to map human proteins via multiple technologies including imaging, proteomics and transcriptomics. Access of the HPA data is mainly via web-based interface allowing views of individual proteins, which may not
Anh Nhat Tran, Alex M. Dussaq, Timothy Kennell, Christopher D. Willey, Anita B. Hjelmeland   +4 more
doaj   +1 more source

Expression of Concern. Shuangxi Wang, Jian Xu, Ping Song, Benoit Viollet, and Ming-Hui Zou. In Vivo Activation of AMP-Activated Protein Kinase Attenuates Diabetes-Enhanced Degradation of GTP Cyclohydrolase I. Diabetes 2009;58:1893-1901. DOI: 10.2337/db09-0267. PMID: 19528375. PMCID: PMC2712774. [PDF]

Diabetes, 2023
American Diabetes Association.
europepmc   +1 more source

Tetrahydrobiopterin (Bh4) deficiencies: diagnosis and treatment

Acta Pediátrica de México, 2014
Tetrahydrobiopterin (BH4) is an enzyme cofactor of phenylalanine hydroxylase, tyrosine hydroxylase and tryptophan hydroxylase. Three different enzymes affect BH4 synthesis: guanosine triphosphate cyclohydrolase I (GTP CH 1), 6-piruvoil tetrahydropterin ...
Mercedes Martínez-Pardo
doaj   +1 more source

HEREDITARY PROGRESSIVE DYSTOMIA : AN INITIATION CODON MUTATION IN THE GTP CYCLOHYDROLASE I GENE

, 1996
We studied the GTP cyclohydrolase I gene in a patient with hereditary progressive dystonia with marked diurnal fluctuation (HPD)/dopa-responsive dystonia (DRD).
Ueno, Satoshi
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