Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease

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