Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model

Characterizing the mitochondrial DNA polymerase gamma interactome by BioID identifies Ruvbl2 localizes to the mitochondria

(2017) Sanduni U. Liyanage et al.   MITOCHONDRION

Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA

(2017) Anna-Karin Berglund et al.   PLoS Genetics

Structural Impact of Single Ribonucleotide Residues in DNA

(2016) Marina Evich et al.   CHEMBIOCHEM

Mitochondrial DNA repair and replication proteins revealed by targeted chemical probes

(2016) Simon Wisnovsky et al.   Nature Chemical Biology

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

(2016) Ilaria Dalla Rosa et al.   PLoS Genetics

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

Genome-wide mapping of embedded ribonucleotides and other noncanonical nucleotides using emRiboSeq and EndoSeq

(2015) James Ding et al.   Nature Protocols

RNA intrusions change DNA elastic properties and structure

(2014) Hsiang-Chih Chiu et al.   Nanoscale

MTH1 inhibition eradicates cancer by preventing sanitation of the dNTP pool

(2014) Helge Gad et al.   NATURE

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

(2013) Yolanda Cámara et al.   HUMAN MOLECULAR GENETICS

PrimPol, an Archaic Primase/Polymerase Operating in Human Cells

(2013) Sara García-Gómez et al.   MOLECULAR CELL

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

Enzymatic Removal of Ribonucleotides from DNA Is Essential for Mammalian Genome Integrity and Development

(2012) Martin A.M. Reijns et al.   CELL

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

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

Ribonucleotide Discrimination and Reverse Transcription by the Human Mitochondrial DNA Polymerase

(2011) Rajesh Kasiviswanathan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nucleoside Triphosphate Pool Asymmetry in Mammalian Mitochondria

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

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

(2008) Carlo Viscomi et al.   HUMAN MOLECULAR GENETICS

Analyzing real-time PCR data by the comparative CT method

(2008) Thomas D Schmittgen et al.   Nature Protocols