Transcriptomic Approach to Lesch-Nyhan Disease

Purine metabolism during neuronal differentiation: the relevance of purine synthesis and recycling

(2013) Martin Göttle et al.   JOURNAL OF NEUROCHEMISTRY

HPRT-Deficiency Dysregulates cAMP-PKA Signaling and Phosphodiesterase 10A Expression: Mechanistic Insight and Potential Target for Lesch-Nyhan Disease?

(2013) Ghiabe-Henri Guibinga et al.   PLoS One

Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase

(2012) L. Mastrangelo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genotype-Phenotype Correlations in Lesch-Nyhan Disease

(2011) Rong Fu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Correction: HPRT Deficiency Coordinately Dysregulates Canonical Wnt and Presenilin-1 Signaling: A Neuro-Developmental Regulatory Role for a Housekeeping Gene?

(2011) Tae Hyuk Kang et al.   PLoS One

Mechanisms for phenotypic variation in Lesch–Nyhan disease and its variants

(2010) Radhika Sampat et al.   HUMAN GENETICS

Human neural stem cells: a model system for the study of Lesch–Nyhan disease neurological aspects

(2010) Silvia Cristini et al.   HUMAN MOLECULAR GENETICS

Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase

(2009) Hang-Korng Ea et al.   ARTHRITIS AND RHEUMATISM

GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists

(2009) Eran Eden et al.   BMC BIOINFORMATICS

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

Trophic functions of nucleotides in the central nervous system

(2009) Joseph T. Neary et al.   TRENDS IN NEUROSCIENCES

Purinergic signalling and disorders of the central nervous system

(2008) Geoffrey Burnstock   NATURE REVIEWS DRUG DISCOVERY

Consequences of impaired purine recycling in dopaminergic neurons

(2008) J.C. Lewers et al.   NEUROSCIENCE

The role of ATP signaling in the migration of intermediate neuronal progenitors to the neocortical subventricular zone

(2008) X. Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Activation of FOXO1 by Cdk1 in Cycling Cells and Postmitotic Neurons

(2008) Z. Yuan et al.   SCIENCE