MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism

(2015) Arnaud Besse et al.   Cell Metabolism

The Human Mitochondrial DNA Depletion Syndrome GeneMPV17Encodes a Non-selective Channel That Modulates Membrane Potential

(2015) Vasily D. Antonenkov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

(2014) C. Garone et al.   EMBO Molecular Medicine

Functional Characterization of drim2, theDrosophila melanogasterHomolog of the Yeast Mitochondrial Deoxynucleotide Transporter

(2014) Caterina Da-Rè et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The HumanSLC25A33andSLC25A36Genes of Solute Carrier Family 25 Encode Two Mitochondrial Pyrimidine Nucleotide Transporters

(2014) Maria Antonietta Di Noia et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

MPV17L2 is required for ribosome assembly in mitochondria

(2014) Ilaria Dalla Rosa et al.   NUCLEIC ACIDS RESEARCH

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

(2013) Johanna Uusimaa et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Ribonucleotide Reductase Association with Mammalian Liver Mitochondria

(2013) Korakod Chimploy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions

(2013) C. L. Alston et al.   NEUROLOGY

Mitochondrial DNA replication proceeds via a ‘bootlace’ mechanism involving the incorporation of processed transcripts

(2013) Aurelio Reyes et al.   NUCLEIC ACIDS RESEARCH

transparent, a gene affecting stripe formation in Zebrafish, encodes the mitochondrial protein Mpv17 that is required for iridophore survival

(2013) J. Krauss et al.   Biology Open

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions

(2012) Caterina Garone et al.   ARCHIVES OF NEUROLOGY

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

(2012) D. Ronchi et al.   BRAIN

The Channel-Forming Sym1 Protein Is Transported by the TIM23 Complex in a Presequence-Independent Manner

(2012) R. Reinhold et al.   MOLECULAR AND CELLULAR BIOLOGY

Minimizing the damage: repair pathways keep mitochondrial DNA intact

(2012) Lawrence Kazak et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

(2012) Emma L. Blakely et al.   NEUROMUSCULAR DISORDERS

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

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

Identification of a de novo thymidylate biosynthesis pathway in mammalian mitochondria

(2011) D. D. Anderson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Enzyme Kinetics of the Mitochondrial Deoxyribonucleoside Salvage Pathway Are Not Sufficient to Support Rapid mtDNA Replication

(2011) Vishal V. Gandhi et al.   PLoS Computational Biology

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

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

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

Fishing in the (deoxyribonucleotide) pool: Figure 1

(2009) Ann Saada   BIOCHEMICAL JOURNAL

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanisms

(2009) Joan Villarroya et al.   EXPERIMENTAL CELL RESEARCH

Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator

(2009) Cristina Dallabona et al.   HUMAN MOLECULAR GENETICS

Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk

(2009) A. Spinazzola et al.   JOURNAL OF INTERNAL MEDICINE

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

(2008) Carlo Viscomi et al.   HUMAN MOLECULAR GENETICS

Disorders caused by deficiency of succinate-CoA ligase

(2008) E. Ostergaard   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency

(2008) Ann Saada   MOLECULAR GENETICS AND METABOLISM

Analyzing real-time PCR data by the comparative CT method

(2008) Thomas D Schmittgen et al.   Nature Protocols

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