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Items: 1 to 20 of 71

1.
GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson’s disease: a two-cohort case-control study
Hong-xu Pan, Yu-wen Zhao, Jun-pu Mei, Zheng-huan Fang, Yige Wang, Xun Zhou, Yang-jie Zhou, Rui Zhang, Kai-lin Zhang, Li Jiang, Qian Zeng, Yan He, Zheng Wang, Zhen-hua Liu, Qian Xu, Qi-ying Sun, Yang Yang, Ya-cen Hu, Ya-se Chen, Juan Du, Li-fang Lei, Hai-nan Zhang, Chun-yu Wang, Xin-xiang Yan, Lu Shen, Hong Jiang, Jie-qiong Tan, Jin-chen Li, Bei-sha Tang, Ji-feng Guo
Transl Neurodegener. 2020; 9: 31. Published online 2020 Aug 4. doi: 10.1186/s40035-020-00212-3
PMCID:
PMC7401216
ArticlePDF–2.0M
2.
A tetrahydrobiopterin deficit finding in schizophrenia: A confirmation study
James D. Clelland, Jennifer Smeed, Serge Cremers, Catherine L. Clelland
Schizophr Res. Author manuscript; available in PMC 2020 May 25.
Published in final edited form as: Schizophr Res. 2019 Aug; 210: 316–318. Published online 2019 Jun 21. doi: 10.1016/j.schres.2019.06.006
PMCID:
PMC7247802
ArticlePDF–470K
3.
GCH1 (rs841) polymorphism in the nitric oxide-forming pathway has protective effects on obstructive sleep apnea
Samaneh Sheikhi Kouhsar, Mohammadreza Bigdeli, Yadollah Shakiba, Khosro Sadeghniiat
Sci Rep. 2019; 9: 18664. Published online 2019 Dec 9. doi: 10.1038/s41598-019-55244-1
PMCID:
PMC6901474
ArticlePDF–935K
4.
Reactive species balance via GTP cyclohydrolase I regulates glioblastoma growth and tumor initiating cell maintenance
Anh Nhat Tran, Kiera Walker, David G Harrison, Wei Chen, James Mobley, Lauren Hocevar, James R Hackney, Randee S Sedaka, Jennifer S Pollock, Matthew S Goldberg, Dolores Hambardzumyan, Sara J Cooper, Yancey Gillespie, Anita B Hjelmeland
Neuro Oncol. 2018 Jul; 20(8): 1055–1067. Published online 2018 Feb 2. doi: 10.1093/neuonc/noy012
PMCID:
PMC6280150
ArticlePDF–6.8M
5.
Common and rare GCH1 variants are associated with Parkinson disease
Uladzislau Rudakou, Bouchra Ouled Amar Bencheikh, Jennifer A. Ruskey, Lynne Krohn, Sandra B. Laurent, Dan Spiegelman, Christopher Liong, Stanley Fahn, Cheryl Waters, Oury Monchi, Edward A. Fon, Yves Dauvilliers, Roy N. Alcalay, Nicolas Dupré, Ziv Gan-Or
Neurobiol Aging. Author manuscript; available in PMC 2020 Jan 1.
Published in final edited form as: Neurobiol Aging. 2019 Jan; 73: 231.e1–231.e6. Published online 2018 Sep 15. doi: 10.1016/j.neurobiolaging.2018.09.008
PMCID:
PMC6251729
ArticlePDF–153K
6.
Genetic variants of GCH1 associate with chronic and acute crisis pain in African Americans with sickle cell disease
Nilanjana Sadhu, Ellie H. Jhun, Yingwei Yao, Ying He, Robert E. Molokie, Diana J. Wilkie, Zaijie Jim Wang
Exp Hematol. Author manuscript; available in PMC 2019 Oct 1.
Published in final edited form as: Exp Hematol. 2018 Oct; 66: 42–49. Published online 2018 Jul 19. doi: 10.1016/j.exphem.2018.07.004
PMCID:
PMC6175655
ArticlePDF–653K
7.
Transgenic overexpression of GTP cyclohydrolase 1 in cardiomyocytes ameliorates post-infarction cardiac remodeling
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
Sci Rep. 2017; 7: 3093. Published online 2017 Jun 8. doi: 10.1038/s41598-017-03234-6
PMCID:
PMC5465102
ArticlePDF–2.9M
8.
GCH1 plays a role in the high-altitude adaptation of Tibetans
Yong-Bo Guo, Yao-Xi He, Chao-Ying Cui, zhuluobu Ou, makangzhuo Bai, jizhuoma Duo, jiquzong De, ba Bian, Peng Yi, Cai-juan Bai, galanzi Gong, Yong-Yue Pan, la Qu, min Kang, yangji Ciren, mayangji Bai, Wei Guo, la Yang, Hui Zhang, Xiao-Ming Zhang, Wang-Shan Zheng, Shu-Hua Xu, Hua Chen, Sheng-Guo Zhao, Yuan Cai, Shi-Ming Liu, Wu Tian-Yi, Xue-Bin Qi, Bing Su
Zool Res. 2017 May 18; 38(3): 155–162. Published online 2017 May 18. doi: 10.24272/j.issn.2095-8137.2017.037
PMCID:
PMC5460084
ArticlePDF–1.8M
9.
Induction of Vascular GTP-Cyclohydrolase I and Endogenous Tetrahydrobiopterin Synthesis Protect Against Inflammation-Induced Endothelial Dysfunction in Human Atherosclerosis
Charalambos Antoniades, Colin Cunnington, Alexis Antonopoulos, Matt Neville, Marios Margaritis, Michael Demosthenous, Jennifer Bendall, Ashley Hale, Ruha Cerrato, Dimitris Tousoulis, Constantinos Bakogiannis, Kyriakoula Marinou, Marina Toutouza, Charalambos Vlachopoulos, Paul Leeson, Christodoulos Stefanadis, Fredrik Karpe, Keith M. Channon
Circulation. Author manuscript; available in PMC 2017 Jan 16.
Published in final edited form as: Circulation. 2011 Oct 25; 124(17): 1860–1870. Published online 2011 Oct 3. doi: 10.1161/CIRCULATIONAHA.111.029272
PMCID:
PMC5238937
ArticlePDF–1.5M
10.
Aging Modifies the Effect of GCH1 RS11158026 on DAT Uptake and Parkinson's Disease Clinical Severity
Joseph Webb, Auriel A. Willette
Neurobiol Aging. Author manuscript; available in PMC 2018 Feb 1.
Published in final edited form as: Neurobiol Aging. 2017 Feb; 50: 39–46. Published online 2016 Oct 13. doi: 10.1016/j.neurobiolaging.2016.10.006
PMCID:
PMC5209269
ArticlePDF–574K
11.
Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts
Kamil K. Hozyasz, Adrianna Mostowska, Piotr Wójcicki, Agnieszka Lasota, Małgorzata Zadurska, Izabela Dunin-Wilczyńska, Paweł P. Jagodziński
Mol Neurobiol. 2016; 53(1): 769–776. Published online 2015 Jul 28. doi: 10.1007/s12035-015-9342-8
PMCID:
PMC4703629
ArticlePDF–450K
12.
Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease
A.J. Lewthwaite, T.D. Lambert, E.B. Rolfe, S. Olgiati, M. Quadri, E.J. Simons, K.E. Morrison, V. Bonifati, D.J. Nicholl
Parkinsonism Relat Disord. 2015 Apr; 21(4): 394–397. doi: 10.1016/j.parkreldis.2015.01.004
PMCID:
PMC4379065
Article
13.
Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers
Niccolò E. Mencacci, Ioannis U. Isaias, Martin M. Reich, Christos Ganos, Vincent Plagnol, James M. Polke, Jose Bras, Joshua Hersheson, Maria Stamelou, Alan M. Pittman, Alastair J. Noyce, Kin Y. Mok, Thomas Opladen, Erdmute Kunstmann, Sybille Hodecker, Alexander Münchau, Jens Volkmann, Samuel Samnick, Katie Sidle, Tina Nanji, Mary G. Sweeney, Henry Houlden, Amit Batla, Anna L. Zecchinelli, Gianni Pezzoli, Giorgio Marotta, Andrew Lees, Paulo Alegria, Paul Krack, Florence Cormier-Dequaire, Suzanne Lesage, Alexis Brice, Peter Heutink, Thomas Gasser, Steven J. Lubbe, Huw R. Morris, Pille Taba, Sulev Koks, Elisa Majounie, J. Raphael Gibbs, Andrew Singleton, John Hardy, Stephan Klebe, Kailash P. Bhatia, Nicholas W. Wood
Brain. 2014 Sep; 137(9): 2480–2492. Published online 2014 Jul 2. doi: 10.1093/brain/awu179
PMCID:
PMC4132650
ArticlePDF–308K
14.
Guanine Triphosphate–Cyclohydrolase 1–Deficient Dopa-Responsive Dystonia Presenting as Frequent Falling in 2 Children
Chang-Yong Tsao
J Child Neurol. Author manuscript; available in PMC 2014 May 1.
Published in final edited form as: J Child Neurol. 2012 Mar; 27(3): 389–391. Published online 2011 Nov 8. doi: 10.1177/0883073811420871
PMCID:
PMC4005918
ArticlePDF–310K
15.
Elevated Levels of Plasma Phenylalanine in Schizophrenia: A Guanosine Triphosphate Cyclohydrolase-1 Metabolic Pathway Abnormality?
Olaoluwa Okusaga, Olesja Muravitskaja, Dietmar Fuchs, Ayesha Ashraf, Sarah Hinman, Ina Giegling, Annette M. Hartmann, Bettina Konte, Marion Friedl, Jason Schiffman, Elliot Hong, Gloria Reeves, Maureen Groer, Robert Dantzer, Dan Rujescu, Teodor T. Postolache
PLoS One. 2014; 9(1): e85945. Published online 2014 Jan 21. doi: 10.1371/journal.pone.0085945
PMCID:
PMC3897774
ArticlePDF–143K
16.
Dopa-Responsive Dystonia: Functional Analysis of Single Nucleotide Substitutions within the 5’ Untranslated GCH1 Region
Ioanna A. Armata, Leonora Balaj, John K. Kuster, Xuan Zhang, Shelun Tsai, Andreas A. Armatas, Trisha J. Multhaupt-Buell, Roy Soberman, Xandra O. Breakefield, Hiroshi Ichinose, Nutan Sharma
PLoS One. 2013; 8(10): e76975. Published online 2013 Oct 4. doi: 10.1371/journal.pone.0076975
Correction in:
PLoS One. 2013; 8(10): 10.1371/annotation/4ace7171-c9d7-490b-a7d6-b49be4094281.
PMCID:
PMC3790877
ArticlePDF–1.5M
17.
Two novel mutations of the GTP cyclohydrolase 1 gene and genotype–phenotype correlation in Chinese Dopa-responsive dystonia patients
Lihua Yu, Huayong Zhou, Fayun Hu, Yanming Xu
Eur J Hum Genet. 2013 Jul; 21(7): 731–735. Published online 2012 Dec 5. doi: 10.1038/ejhg.2012.239
PMCID:
PMC3722942
ArticlePDF–799K
18.
A GCH1 Haplotype and Risk of Neural Tube Defects in the National Birth Defects Prevention Study
Philip J. Lupo, Claudia Chapa, Darryl Nousome, Cody Duhon, Mark A. Canfield, Gary M. Shaw, Richard H. Finnell, Huiping Zhu, The National Birth Defects Prevention Study
Mol Genet Metab. Author manuscript; available in PMC 2013 Nov 1.
Published in final edited form as: Mol Genet Metab. 2012 Nov; 107(3): 592–595. Published online 2012 Sep 25. doi: 10.1016/j.ymgme.2012.09.020
PMCID:
PMC3704723
ArticlePDF–203K
19.
GCH1-polymorphism and pain sensitivity among women with provoked vestibulodynia
Ulrika Heddini, Nina Bohm-Starke, Alfhild Grönbladh, Fred Nyberg, Kent W Nilsson, Ulrika Johannesson
Mol Pain. 2012; 8: 68. Published online 2012 Sep 12. doi: 10.1186/1744-8069-8-68
PMCID:
PMC3489821
ArticlePDF–435K
20.
Mutation in 5’upstream region of GCHI gene causes familial dopa-responsive dystonia
Nutan Sharma, Ioanna A. Armata, Trisha J. Multhaupt-Buell, Laurie J. Ozelius, Winnie Xin, Katherine B. Sims
Mov Disord. Author manuscript; available in PMC 2012 Sep 1.
Published in final edited form as: Mov Disord. 2011 Sep; 26(11): 2140–2141. Published online 2011 Jun 14. doi: 10.1002/mds.23786
PMCID:
PMC3175261
ArticlePDF–281K

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