Results 1 to 10 of about 68,431 (214)

GTP Cyclohydrolase 1/Tetrahydrobiopterin Counteract Ferroptosis through Lipid Remodeling [PDF]

ACS Central Science, 2019
Ferroptosis is an iron-dependent form of regulated cell death linking iron, lipid, and glutathione levels to degenerative processes and tumor suppression.
Vanessa A. N. Kraft, Carla T. Bezjian, Susanne Pfeiffer, Larissa Ringelstetter, Constanze Müller, Fereshteh Zandkarimi, Juliane Merl-Pham, Xuanwen Bao, Natasa Anastasov, Johanna Kössl, Stefanie Brandner, Jacob D. Daniels, Philippe Schmitt-Kopplin, Stefanie M. Hauck, Brent R. Stockwell, Kamyar Hadian, Joel A. Schick   +16 more
doaj   +7 more sources

Nitrosative stress induced by homocysteine thiolactone drives vascular cognitive impairments via GTP cyclohydrolase 1 S-nitrosylation in vivo [PDF]

Redox Biology, 2022
Background: s: Hyperhomocysteinemia (HHcy) is one of risk factors for vascular cognitive impairment (VCI). GTP cyclohydrolase 1 (GCH1) deficiency is critical to oxidative stress in vascular dysfunction.
Ya-Ling Yin, Yuan Chen, Feng Ren, Lu Wang, Mo-Li Zhu, Jun-Xiu Lu, Qian-Qian Wang, Cheng-Biao Lu, Chao Liu, Yong-Ping Bai, Shuang-Xi Wang, Jian-Zhi Wang, Peng Li   +12 more
doaj   +3 more sources

GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child – a case report [PDF]

BMC Pediatrics, 2019
Background Tetrahydrobiopterin (BH4) deficiencies are disorders affecting phenylalanine homeostasis, and catecholamine and serotonin biosynthesis. GTP-Cyclohydrolase I deficiency (OMIM 600225) is an extremely rare variant of inborn error of BH4 synthesis
Kavinda Chandimal Dayasiri, Nayani Suraweera, Deepal Nawarathne, U. E. Senanayake, B. K. T. P. Dayanath, Eresha Jasinge, Kumudu Weerasekara   +6 more
doaj   +3 more sources

Transgenic overexpression of GTP cyclohydrolase 1 in cardiomyocytes ameliorates post-infarction cardiac remodeling [PDF]

Scientific Reports, 2017
GTP cyclohydrolase 1 (GCH1) and its product tetrahydrobiopterin play crucial roles in cardiovascular health and disease, yet the exact regulation and role of GCH1 in adverse cardiac remodeling after myocardial infarction are still enigmatic.
Yanan Liu, Shelley L. Baumgardt, Juan Fang, Yang Shi, Shigang Qiao, Zeljko J. Bosnjak, Jeannette Vásquez-Vivar, Zhengyuan Xia, David C. Warltier, Judy R. Kersten, Zhi-Dong Ge   +10 more
doaj   +3 more sources

Parkinsonism in GTP cyclohydrolase 1 mutation carriers. [PDF]

Brain, 2015
Sir, We read with great interest the article by Mencacci and colleagues (2014) reporting a significantly higher frequency of GTP cyclohydrolase 1 ( GCH1 ) variants in patients with Parkinson’s disease compared to controls. Whole-exome sequencing of a large case-control cohort showed that rare GCH1 coding variants are associated with a 7-fold increased
Guella I, Sherman HE, Appel-Cresswell S, Rajput A, Rajput AH, Farrer MJ.   +5 more
europepmc   +5 more sources

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. [PDF]

Brain, 2014
Mutations in the gene encoding the dopamine-synthetic enzyme GTP cyclohydrolase-1 (GCH1) cause DOPA-responsive dystonia (DRD). Mencacci et al. demonstrate that GCH1 variants are associated with an increased risk of Parkinson's disease in both DRD ...
Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, Münchau A, Volkmann J, Samnick S, Sidle K, Nanji T, Sweeney MG, Houlden H, Batla A, Zecchinelli AL, Pezzoli G, Marotta G, Lees A, Alegria P, Krack P, Cormier-Dequaire F, Lesage S, Brice A, Heutink P, Gasser T, Lubbe SJ, Morris HR, Taba P, Koks S, Majounie E, Raphael Gibbs J, Singleton A, Hardy J, Klebe S, Bhatia KP, Wood NW, International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium.   +45 more
europepmc   +9 more sources

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. [PDF]

Brain, 2015
Sir, We read with great interest the study titled ‘Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers’ in the September edition of Brain (Mencacci et al. , 2014). The study demonstrates loss-of-function variants in the GCH1 gene are not only a major cause of DOPA-responsive dystonia but are also enriched in relatives with adult-onset ...
Ryan BJ, Crabtree MJ, Channon KM, Wade-Martins R.   +3 more
europepmc   +7 more sources

Inhibition of Brain GTP Cyclohydrolase I Attenuates 3-Nitropropionic Acid-Induced Striatal Toxicity: Involvement of Mas Receptor/PI3k/Akt/CREB/ BDNF Axis. [PDF]

Front Pharmacol, 2021
GTP cyclohydrolase I (GTPCH I) is the rate-limiting enzyme for tetrahydrobiopterin (BH4) biosynthesis; the latter is an essential factor for iNOS activation that contributes neuronal loss in Huntington’s disease (HD).
Mustafa AM, Rabie MA, Zaki HF, Shaheen AM.   +3 more
europepmc   +2 more sources

Endothelial GTPCH (GTP Cyclohydrolase 1) and Tetrahydrobiopterin Regulate Gestational Blood Pressure, Uteroplacental Remodeling, and Fetal Growth. [PDF]

Hypertension, 2021
Supplemental Digital Content is available in the text. Abnormal uteroplacental remodeling leads to placental hypoperfusion, causing fetal growth restriction and pregnancy-related hypertension, which are associated with endothelial dysfunction and markers
Chuaiphichai S, Yu GZ, Tan CMJ, Whiteman C, Douglas G, Dickinson Y, Drydale EN, Appari M, Zhang W, Crabtree MJ, McNeill E, Hale AB, Lewandowski AJ, Alp NJ, Vatish M, Leeson P, Channon KM.   +16 more
europepmc   +2 more sources

A hybrid approach reveals the allosteric regulation of GTP cyclohydrolase I. [PDF]

Proc Natl Acad Sci U S A, 2020
Significance We present a comprehensive structural study, which shows the human GCH1 and GCH1−GFRP complexes in all states (apo, ligand bound, partially and fully inhibited).
Ebenhoch R, Prinz S, Kaltwasser S, Mills DJ, Meinecke R, Rübbelke M, Reinert D, Bauer M, Weixler L, Zeeb M, Vonck J, Nar H.   +11 more
europepmc   +2 more sources