Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome

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

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

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion

(2012) Stefanie Bulst et al.   MOLECULAR GENETICS AND METABOLISM

Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy

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

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

Cellular function and molecular structure of ecto-nucleotidases

(2012) Herbert Zimmermann et al.   Purinergic Signalling

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

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

Forodesine: review of preclinical and clinical data

(2010) Aref Al-Kali et al.   Future Oncology

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

(2009) S. Bulst 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

Prodrugs of Phosphates and Phosphonates

(2008) Scott J. Hecker et al.   JOURNAL OF MEDICINAL CHEMISTRY

Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency

(2008) Ann Saada   MOLECULAR GENETICS AND METABOLISM