Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease
Authors
Keywords
-
Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume -, Issue -, Pages 202003475
Publisher
Proceedings of the National Academy of Sciences
Online
2020-05-20
DOI
10.1073/pnas.2003475117
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- The Rise of Physiologic Media
- (2019) Jason R. Cantor TRENDS IN CELL BIOLOGY
- Macrocytic anemia in Lesch–Nyhan disease and its variants
- (2018) Hasan F. Cakmakli et al. GENETICS IN MEDICINE
- Keeping the home fires burning: AMP-activated protein kinase
- (2018) D. Grahame Hardie Journal of the Royal Society Interface
- Aicar effect in early neuronal development
- (2018) Rosa J. Torres et al. NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS
- Metabolomics and proteomics identify the toxic form and the associated cellular binding targets of the anti-proliferative drug AICAR
- (2018) Delphine C. Douillet et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Non-targeted metabolomics by high resolution mass spectrometry in HPRT knockout mice
- (2016) Sarah K. Tschirner et al. LIFE SCIENCES
- An Ancient Riboswitch Class in Bacteria Regulates Purine Biosynthesis and One-Carbon Metabolism
- (2015) Peter B. Kim et al. MOLECULAR CELL
- Clinical severity in Lesch–Nyhan disease: The role of residual enzyme and compensatory pathways
- (2015) Rong Fu et al. MOLECULAR GENETICS AND METABOLISM
- New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients
- (2015) Irène Ceballos-Picot et al. Orphanet Journal of Rare Diseases
- Folate-Dependent Purine Nucleotide Biosynthesis in Humans
- (2015) Joseph E Baggott et al. Advances in Nutrition
- Activity-Driven Local ATP Synthesis Is Required for Synaptic Function
- (2014) Vidhya Rangaraju et al. CELL
- The Housekeeping Gene Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Regulates Multiple Developmental and Metabolic Pathways of Murine Embryonic Stem Cell Neuronal Differentiation
- (2013) Tae Hyuk Kang et al. PLoS One
- Attenuated variants of Lesch-Nyhan disease
- (2010) H. A. Jinnah et al. BRAIN
- Evidence for the hypothesis that 10-formyldihydrofolate is the in vivo substrate for aminoimidazolecarboxamide ribotide transformylase
- (2010) Joseph E Baggott et al. EXPERIMENTAL BIOLOGY AND MEDICINE
- Human neural stem cells: a model system for the study of Lesch–Nyhan disease neurological aspects
- (2010) Silvia Cristini et al. HUMAN MOLECULAR GENETICS
- Therapeutics by Cytotoxic Metabolite Accumulation: Pemetrexed Causes ZMP Accumulation, AMPK Activation, and Mammalian Target of Rapamycin Inhibition
- (2009) Alexandra C. Racanelli et al. CANCER RESEARCH
- Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis
- (2009) I. Ceballos-Picot et al. HUMAN MOLECULAR GENETICS
- Deficiency of the Housekeeping Gene Hypoxanthine–Guanine Phosphoribosyltransferase (HPRT) Dysregulates Neurogenesis
- (2009) Ghiabe-Henri Guibinga et al. MOLECULAR THERAPY
- Is ZMP the toxic metabolite in Lesch–Nyhan disease?
- (2008) José M. López MEDICAL HYPOTHESES
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreDiscover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversation