Pathophysiological Role of Purines and Pyrimidines in Neurodevelopment: Unveiling New Pharmacological Approaches to Congenital Brain Diseases

Neurogenesis impairment: An early developmental defect in Down syndrome

(2018) Fiorenza Stagni et al.   FREE RADICAL BIOLOGY AND MEDICINE

Twenty-Five Years of Gene Therapy for ADA-SCID: From Bubble Babies to an Approved Drug

(2017) Francesca Ferrua et al.   HUMAN GENE THERAPY

The P2X7 Receptor in Infection and Inflammation

(2017) Francesco Di Virgilio et al.   IMMUNITY

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

(2017) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Neuronal P2X7 Receptors Revisited: Do They Really Exist?

(2017) Peter Illes et al.   JOURNAL OF NEUROSCIENCE

Neuronal P2X7 Receptor: Involvement in Neuronal Physiology and Pathology

(2017) M. Teresa Miras-Portugal et al.   JOURNAL OF NEUROSCIENCE

Purinergic Signalling: Therapeutic Developments

(2017) Geoffrey Burnstock   Frontiers in Pharmacology

The NLRP3 and Pyrin Inflammasomes: Implications in the Pathophysiology of Autoinflammatory Diseases

(2017) Carlos de Torre-Minguela et al.   Frontiers in Immunology

Low-dose suramin in autism spectrum disorder: a small, phase I/II, randomized clinical trial

(2017) Robert K. Naviaux et al.   Annals of Clinical and Translational Neurology

SNX27, a protein involved in down syndrome, regulates GPR17 trafficking and oligodendrocyte differentiation

(2016) Veronica Meraviglia et al.   GLIA

Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation

(2016) Álvaro Sebastián-Serrano et al.   HUMAN MOLECULAR GENETICS

A Germline Variant in thePANX1Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction

(2016) Qing Shao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pannexin 1 Differentially Affects Neural Precursor Cell Maintenance in the Ventricular Zone and Peri-Infarct Cortex

(2016) L. E. Wicki-Stordeur et al.   JOURNAL OF NEUROSCIENCE

CNS remyelination as a novel reparative approach to neurodegenerative diseases: The roles of purinergic signaling and the P2Y-like receptor GPR17

(2016) Marta Fumagalli et al.   NEUROPHARMACOLOGY

Purinergic receptors in embryonic and adult neurogenesis

(2016) Ágatha Oliveira et al.   NEUROPHARMACOLOGY

Purines in neurite growth and astroglia activation

(2016) Claudia Heine et al.   NEUROPHARMACOLOGY

Pharmacology and structure of P2Y receptors

(2016) Ivar von Kügelgen et al.   NEUROPHARMACOLOGY

Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome

(2016) Khue Vu Nguyen et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

A review of the implication of hypoxanthine excess in the physiopathology of Lesch–Nyhan disease

(2016) R. J. Torres et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

Intertwining extracellular nucleotides and their receptors with Ca2+in determining adult neural stem cell survival, proliferation and final fate

(2016) Davide Lecca et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Impaired oligodendrocyte maturation in preterm infants: Potential therapeutic targets

(2016) Erik van Tilborg et al.   PROGRESS IN NEUROBIOLOGY

Maternal immune activation: Implications for neuropsychiatric disorders

(2016) M. L. Estes et al.   SCIENCE

The role of P2X7 receptors in a rodent PCP-induced schizophrenia model

(2016) Bence Koványi et al.   Scientific Reports

Urinary metabolomics of young Italian autistic children supports abnormal tryptophan and purine metabolism

(2016) Federica Gevi et al.   Molecular Autism

The Guanine-Based Purinergic System: The Tale of An Orphan Neuromodulation

(2016) Valentina Di Liberto et al.   Frontiers in Pharmacology

Prenatal exposure to inflammatory conditions increases Cx43 and Panx1 unopposed channel opening and activation of astrocytes in the offspring effect on neuronal survival

(2015) Beatriz C. Avendaño et al.   GLIA

The ubiquitin ligase Mdm2 controls oligodendrocyte maturation by intertwining mTOR with G protein-coupled receptor kinase 2 in the regulation of GPR17 receptor desensitization

(2015) Marta Fumagalli et al.   GLIA

Orotic Acid, More Than Just an Intermediate of Pyrimidine de novo Synthesis

(2015) Monika Löffler et al.   Journal of Genetics and Genomics

Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis

(2015) R. J. Torres et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The role of inflammation in perinatal brain injury

(2015) Henrik Hagberg et al.   Nature Reviews Neurology

Treatment with UDP-glucose, GDNF, and memantine promotes SVZ and white matter self-repair by endogenous glial progenitor cells in neonatal rats with ischemic PVL

(2015) W.-J. Li et al.   NEUROSCIENCE

P2X7 Receptors Mediate Innate Phagocytosis by Human Neural Precursor Cells and Neuroblasts

(2015) Michael D. Lovelace et al.   STEM CELLS

Antipurinergic therapy corrects the autism-like features in the Fragile X (Fmr1 knockout) mouse model

(2015) Jane C Naviaux et al.   Molecular Autism

Tissue-nonspecific Alkaline Phosphatase Regulates Purinergic Transmission in the Central Nervous System During Development and Disease

(2015) Álvaro Sebastián-Serrano et al.   Computational and Structural Biotechnology Journal

Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease

(2014) Martin Göttle et al.   ANNALS OF NEUROLOGY

The Antiepileptic Potential of Nucleosides

(2014) Z. Kovacs et al.   CURRENT MEDICINAL CHEMISTRY

Purines regulate adult brain subventricular zone cell functions: Contribution of reactive astrocytes

(2014) Marta Boccazzi et al.   GLIA

Neurotransmitter signaling in white matter

(2014) Arthur M. Butt et al.   GLIA

Restoration of Adenosine Deaminase-Deficient Human Thymocyte Development In Vitro by Inhibition of Deoxynucleoside Kinases

(2014) M. L. Joachims et al.   JOURNAL OF IMMUNOLOGY

Inborn errors of pyrimidine metabolism: clinical update and therapy

(2014) Shanti Balasubramaniam et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Maternal immune activation and abnormal brain development across CNS disorders

(2014) Irene Knuesel et al.   Nature Reviews Neurology

Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants

(2014) D. J. Schretlen et al.   NEUROLOGY

Cytokine function in medication-naive first episode psychosis: A systematic review and meta-analysis

(2014) Rachel Upthegrove et al.   SCHIZOPHRENIA RESEARCH

Sorting Nexin 27 Regulates Aβ Production through Modulating γ-Secretase Activity

(2014) Xin Wang et al.   Cell Reports

Reversal of autism-like behaviors and metabolism in adult mice with single-dose antipurinergic therapy

(2014) J C Naviaux et al.   Translational Psychiatry

Treatment of Lesch–Nyhan disease with S-adenosylmethionine: Experience with five young Malaysians, including a girl

(2013) Bee C. Chen et al.   BRAIN & DEVELOPMENT

Autism spectrum disorders

(2013) Marlene Briciet Lauritsen   EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

Autism and Dietary Therapy

(2013) Martha R. Herbert et al.   JOURNAL OF CHILD NEUROLOGY

Up-regulation and activation of the P2Y2nucleotide receptor mediate neurite extension in IL-1β-treated mouse primary cortical neurons

(2013) Troy S. Peterson et al.   JOURNAL OF NEUROCHEMISTRY

Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulating glutamate receptor recycling in Down's syndrome

(2013) Xin Wang et al.   NATURE MEDICINE

Antipurinergic Therapy Corrects the Autism-Like Features in the Poly(IC) Mouse Model

(2013) Robert K. Naviaux et al.   PLoS One

Periventricular leukomalacia long-term prognosis may be improved by treatment with UDP-glucose, GDNF, and memantine in neonatal rats

(2012) Feng-xia Mao et al.   BRAIN RESEARCH

Ablation of TNAP function compromises myelination and synaptogenesis in the mouse brain

(2012) János Hanics et al.   CELL AND TISSUE RESEARCH

Expression of trisomic proteins in Down syndrome model systems

(2012) Claire Spellman et al.   GENE

Adenylate cyclase 5 coordinates the action of ADP, P2Y1, P2Y13 and ATP-gated P2X7 receptors on axonal elongation

(2012) A. del Puerto et al.   JOURNAL OF CELL SCIENCE

Adenosine augmentation ameliorates psychotic and cognitive endophenotypes of schizophrenia

(2012) Hai-Ying Shen et al.   JOURNAL OF CLINICAL INVESTIGATION

Purinergic Signaling Promotes Proliferation of Adult Mouse Subventricular Zone Cells

(2012) S. Suyama et al.   JOURNAL OF NEUROSCIENCE

Down syndrome: the brain in trisomic mode

(2012) Mara Dierssen   NATURE REVIEWS NEUROSCIENCE

Synaptic Energy Use and Supply

(2012) Julia J. Harris et al.   NEURON

Adenosine and autism: A spectrum of opportunities

(2012) Susan A. Masino et al.   NEUROPHARMACOLOGY

Brain Transcriptional and Epigenetic Associations with Autism

(2012) Matthew R. Ginsberg et al.   PLoS One

Extrinsic Purinergic Regulation of Neural Stem/Progenitor Cells: Implications for CNS Development and Repair

(2012) Henning Ulrich et al.   Stem Cell Reviews and Reports

Inflammation during fetal and neonatal life: Implications for neurologic and neuropsychiatric disease in children and adults

(2011) Henrik Hagberg et al.   ANNALS OF NEUROLOGY

Brain Energy Metabolism: Focus on Astrocyte-Neuron Metabolic Cooperation

(2011) Mireille Bélanger et al.   Cell Metabolism

Neurological Disorders of Purine and Pyrimidine Metabolism

(2011) Vanna Micheli et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Metabolic Network of Nucleosides in the Brain

(2011) Piero L. Ipata et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

The GPR17 receptor in NG2 expressing cells: Focus on in vivocell maturation and participation in acute trauma and chronic damage

(2011) Enrica Boda et al.   GLIA

Phenotypic Changes, Signaling Pathway, and Functional Correlates of GPR17-expressing Neural Precursor Cells during Oligodendrocyte Differentiation

(2011) Marta Fumagalli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A ketogenic diet suppresses seizures in mice through adenosine A1 receptors

(2011) Susan A. Masino et al.   JOURNAL OF CLINICAL INVESTIGATION

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Adenosine hypothesis of schizophrenia – Opportunities for pharmacotherapy

(2011) Detlev Boison et al.   NEUROPHARMACOLOGY

The relationship between the neuromodulator adenosine and behavioral symptoms of autism

(2011) Susan A. Masino et al.   NEUROSCIENCE LETTERS

The PRPP Synthetase Spectrum: What Does it Demonstrate About Nucleotide Syndromes?

(2011) John A. Duley et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

International Union of Basic and Clinical Pharmacology. LXXXI. Nomenclature and Classification of Adenosine Receptors--An Update

(2011) B. B. Fredholm et al.   PHARMACOLOGICAL REVIEWS

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

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

(2010) Arjan P.M. de Brouwer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Physiological role of alkaline phosphatase explored in hypophosphatasia

(2010) Michael P. Whyte   Annals of the New York Academy of Sciences

Indirect basal ganglia pathway mediation of repetitive behavior: Attenuation by adenosine receptor agonists

(2010) Yoko Tanimura et al.   BEHAVIOURAL BRAIN RESEARCH

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients

(2010) André B.P. van Kuilenburg et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Microglial Activation and Increased Microglial Density Observed in the Dorsolateral Prefrontal Cortex in Autism

(2010) John T. Morgan et al.   BIOLOGICAL PSYCHIATRY

Effects of prenatal infection on brain development and behavior: A review of findings from animal models

(2010) Patricia Boksa   BRAIN BEHAVIOR AND IMMUNITY

Expression of the new P2Y-like receptor GPR17 during oligodendrocyte precursor cell maturation regulates sensitivity to ATP-induced death

(2010) Stefania Ceruti et al.   GLIA

Metabolic Autocrine Regulation of Neurons Involves Cooperation among Pannexin Hemichannels, Adenosine Receptors, and KATP Channels

(2010) M. Kawamura et al.   JOURNAL OF NEUROSCIENCE

The Basics of Brain Development

(2010) Joan Stiles et al.   NEUROPSYCHOLOGY REVIEW

Astrocytes in the damaged brain: Molecular and cellular insights into their reactive response and healing potential

(2009) Annalisa Buffo et al.   BIOCHEMICAL PHARMACOLOGY

Adenosine signaling and function in glial cells

(2009) D Boison et al.   CELL DEATH AND DIFFERENTIATION

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

Coordinate pathways for nucleotide and EGF signaling in cultured adult neural progenitor cells

(2009) I. Grimm et al.   JOURNAL OF CELL SCIENCE

The oligodendrocyte-specific G protein–coupled receptor GPR17 is a cell-intrinsic timer of myelination

(2009) Ying Chen et al.   NATURE NEUROSCIENCE

Uracil nucleotides: From metabolic intermediates to neuroprotection and neuroinflammation

(2008) Davide Lecca et al.   BIOCHEMICAL PHARMACOLOGY

Cell Cycle Elongation Impairs Proliferation of Cerebellar Granule Cell Precursors in the Ts65Dn Mouse, an Animal Model for Down Syndrome

(2008) Andrea Contestabile et al.   BRAIN PATHOLOGY

Schizophrenia: A Concise Overview of Incidence, Prevalence, and Mortality

(2008) J. McGrath et al.   EPIDEMIOLOGIC REVIEWS

Mental retardation and associated neurological dysfunctions in Down syndrome: A consequence of dysregulation in critical chromosome 21 genes and associated molecular pathways

(2008) Mohammed Rachidi et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The Recently Identified P2Y-Like Receptor GPR17 Is a Sensor of Brain Damage and a New Target for Brain Repair

(2008) Davide Lecca et al.   PLoS One

Adenosine as a neuromodulator in neurological diseases

(2007) D BOISON   CURRENT OPINION IN PHARMACOLOGY

Abnormal Purine and Pyrimidine Nucleotide Content in Primary Astroglia Cultures from Hypoxanthine-Guanine Phosphoribosyltransferase-Deficient Transgenic Mice

(2003) Dori Pelled et al.   JOURNAL OF NEUROCHEMISTRY