Nucleotide Salvage Deficiencies, DNA Damage and Neurodegeneration

Protecting the mitochondrial powerhouse

(2015) Morten Scheibye-Knudsen et al.   TRENDS IN CELL BIOLOGY

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

(2014) Martin Göttle et al.   ANNALS OF NEUROLOGY

Pathophysiology of circulating xanthine oxidoreductase: New emerging roles for a multi-tasking enzyme

(2014) Maria Giulia Battelli et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

(2014) Susana Kalko et al.   BMC GENOMICS

Mitochondrial genome maintenance in health and disease

(2014) William C. Copeland et al.   DNA REPAIR

Long Term Expression ofDrosophila melanogasterNucleoside Kinase in Thymidine Kinase 2-deficient Mice with No Lethal Effects Caused by Nucleotide Pool Imbalances

(2014) Shuba Krishnan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Deoxycytidine Kinase Augments ATM-Mediated DNA Repair and Contributes to Radiation Resistance

(2014) Yuri L. Bunimovich et al.   PLoS One

Intermingled cAMP, cGMP and calcium spatiotemporal dynamics in developing neuronal circuits

(2014) Stefania Averaimo et al.   Frontiers in Cellular Neuroscience

Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions

(2013) M. Ambrose et al.   BLOOD

Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

(2013) Rong Fu et al.   BRAIN

The appropriateness of the mouse model for ataxia-telangiectasia: Neurological defects but no neurodegeneration

(2013) Martin F. Lavin   DNA REPAIR

Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia

(2013) Nilesh K. Sharma et al.   DNA REPAIR

Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options

(2013) Ayman W. El-Hattab et al.   Neurotherapeutics

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

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

Mechanisms of Spontaneous Resolution of Acute Gouty Inflammation

(2013) Stefanie Steiger et al.   Current Rheumatology Reports

Oxidants and not alkylating agents induce rapid mtDNA loss and mitochondrial dysfunction

(2012) Amy M. Furda et al.   DNA REPAIR

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

(2012) Massimiliano Filosto et al.   JOURNAL OF NEUROLOGY

Mitochondria, oxidative stress and neurodegeneration

(2012) Antonio Federico et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy

(2012) Adam H. Buchaklian et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutations in Thymidine Phosphorylase Gene in Two Italian Brothers

(2012) Laura Libernini et al.   NEUROPEDIATRICS

Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cells

(2012) G. Pontarin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Brain Energy Metabolism: Focus on Astrocyte-Neuron Metabolic Cooperation

(2011) Mireille Bélanger et al.   Cell Metabolism

Defects in mitochondrial DNA replication and human disease

(2011) William C. Copeland   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Neurological Disorders of Purine and Pyrimidine Metabolism

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

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

(2011) H. Tyynismaa et al.   HUMAN MOLECULAR GENETICS

Deoxyribonucleotide Metabolism in Cycling and Resting Human Fibroblasts with a Missense Mutation in p53R2, a Subunit of Ribonucleotide Reductase

(2011) Giovanna Pontarin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nucleoside Triphosphate Pool Asymmetry in Mammalian Mitochondria

(2011) Linda J. Wheeler et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

(2011) Emiliano González-Vioque et al.   PLoS Genetics

Attenuated variants of Lesch-Nyhan disease

(2010) H. A. Jinnah et al.   BRAIN

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

(2010) Radhika Sampat et al.   HUMAN GENETICS

Mitochondrial myopathy induces a starvation-like response

(2010) Henna Tyynismaa et al.   HUMAN MOLECULAR GENETICS

Regulation by degradation, a cellular defense against deoxyribonucleotide pool imbalances

(2010) Chiara Rampazzo et al.   MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS

Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice

(2010) Emil Ylikallio et al.   NUCLEIC ACIDS RESEARCH

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

(2009) Henna Tyynismaa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mouse models of mitochondrial DNA defects and their relevance for human disease

(2009) Henna Tyynismaa et al.   EMBO REPORTS

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

Clinical Radiation Sensitivity With DNA Repair Disorders: An Overview

(2009) Julianne M. Pollard et al.   INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS

Pediatric neurological syndromes and inborn errors of purine metabolism

(2009) Marcella Camici et al.   NEUROCHEMISTRY INTERNATIONAL

Elevated dNTP levels suppress hyper-recombination in Saccharomyces cerevisiae S-phase checkpoint mutants

(2009) Michael Fasullo et al.   NUCLEIC ACIDS RESEARCH

Gastrointestinal Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy Is Caused by Mitochondrial DNA Depletion

(2008) Carla Giordano et al.   AMERICAN JOURNAL OF PATHOLOGY

Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice

(2008) X. Zhou et al.   HUMAN MOLECULAR GENETICS

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance

(2008) Hasan O. Akman et al.   HUMAN MOLECULAR GENETICS

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

(2008) Luis C. López et al.   HUMAN MOLECULAR GENETICS

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

(2008) D. P. Dimmock et al.   HUMAN MUTATION

Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency

(2008) Ann Saada   MOLECULAR GENETICS AND METABOLISM

Trace amounts of 8-oxo-dGTP in mitochondrial dNTP pools reduce DNA polymerase   replication fidelity

(2008) Z. F. Pursell et al.   NUCLEIC ACIDS RESEARCH

Molecular Mechanisms of Mitochondrial DNA Depletion Diseases Caused by Deficiencies in Enzymes in Purine and Pyrimidine Metabolism

(2008) Staffan Eriksson et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

Purinergic signalling in the nervous system: an overview

(2008) Maria P. Abbracchio et al.   TRENDS IN NEUROSCIENCES

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