NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs

Genome-wide identification of mRNA 5-methylcytosine in mammals

(2019) Tao Huang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Mitochondrial DNA transcription and translation: clinical syndromes

(2018) Veronika Boczonadi et al.   Essays in Biochemistry

CO2-sensitive tRNA modification associated with human mitochondrial disease

(2018) Huan Lin et al.   Nature Communications

RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis

(2018) Uwe Richter et al.   Nature Communications

The mammalian mitochondrial epitranscriptome

(2018) Pedro Rebelo-Guiomar et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

(2017) Caterina Garone et al.   HUMAN MOLECULAR GENETICS

The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules

(2017) Sofia Zaganelli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Architecture Mapping of the Inner Mitochondrial Membrane Proteome by Chemical Tools in Live Cells

(2017) Song-Yi Lee et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

TRMT1-Catalyzed tRNA Modifications Are Required for Redox Homeostasis To Ensure Proper Cellular Proliferation and Oxidative Stress Survival

(2017) Joshua M. Dewe et al.   MOLECULAR AND CELLULAR BIOLOGY

ALKBH1 is an RNA dioxygenase responsible for cytoplasmic and mitochondrial tRNA modifications

(2017) Layla Kawarada et al.   NUCLEIC ACIDS RESEARCH

MODOMICS: a database of RNA modification pathways. 2017 update

(2017) Pietro Boccaletto et al.   NUCLEIC ACIDS RESEARCH

Maturation of selected human mitochondrial tRNAs requires deadenylation

(2017) Sarah F Pearce et al.   eLife

Cytosine-5 RNA Methylation Regulates Neural Stem Cell Differentiation and Motility

(2017) Joana V. Flores et al.   Stem Cell Reports

NSUN3 and ABH1 modify the wobble position of mt‐tRNAMetto expand codon recognition in mitochondrial translation

(2016) Sara Haag et al.   EMBO JOURNAL

NSUN3 methylase initiates 5-formylcytidine biogenesis in human mitochondrial tRNAMet

(2016) Saori Nakano et al.   Nature Chemical Biology

Spatially resolved proteomic mapping in living cells with the engineered peroxidase APEX2

(2016) Victoria Hung et al.   Nature Protocols

TRNT1 deficiency: clinical, biochemical and molecular genetic features

(2016) Yehani Wedatilake et al.   Orphanet Journal of Rare Diseases

Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

(2016) Lindsey Van Haute et al.   Nature Communications

APEX Fingerprinting Reveals the Subcellular Localization of Proteins of Interest

(2016) Song-Yi Lee et al.   Cell Reports

Mitochondrial 16S rRNA Is Methylated by tRNA Methyltransferase TRMT61B in All Vertebrates

(2016) Dan Bar-Yaacov et al.   PLOS BIOLOGY

CRISPR-Cas9D10A nickase-based genotypic and phenotypic screening to enhance genome editing

(2016) Ting-Wei Will Chiang et al.   Scientific Reports

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

(2015) Christopher A. Powell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial transcript maturation and its disorders

(2015) Lindsey Van Haute et al.   JOURNAL OF INHERITED METABOLIC DISEASE

NSUN6 is a human RNA methyltransferase that catalyzes formation of m5C72 in specific tRNAs

(2015) Sara Haag et al.   RNA

Methylation of ribosomal RNA by NSUN5 is a conserved mechanism modulating organismal lifespan

(2015) Markus Schosserer et al.   Nature Communications

Eukaryotic rRNA Modification by Yeast 5-Methylcytosine-Methyltransferases and Human Proliferation-Associated Antigen p120

(2015) Gabrielle Bourgeois et al.   PLoS One

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

(2014) Robert Kopajtich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

(2014) P. K. Chakraborty et al.   BLOOD

Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders

(2014) S. Blanco et al.   EMBO JOURNAL

VARS2andTARS2Mutations in Patients with Mitochondrial Encephalomyopathies

(2014) Daria Diodato et al.   HUMAN MUTATION

Assignment of 2′-O-Methyltransferases to Modification Sites on the Mammalian Mitochondrial Large Subunit 16 S Ribosomal RNA (rRNA)

(2014) Ken-Wing Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome

(2014) Joanna Rorbach et al.   MOLECULAR BIOLOGY OF THE CELL

A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs

(2014) T. Suzuki et al.   NUCLEIC ACIDS RESEARCH

tRNA Modifying Enzymes, NSUN2 and METTL1, Determine Sensitivity to 5-Fluorouracil in HeLa Cells

(2014) Mayumi Okamoto et al.   PLoS Genetics

Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

(2014) John W. Yarham et al.   PLoS Genetics

NSUN4 Is a Dual Function Mitochondrial Protein Required for Both Methylation of 12S rRNA and Coordination of Mitoribosomal Assembly

(2014) Metodi Dimitrov Metodiev et al.   PLoS Genetics

Stem cell metabolism in tissue development and aging

(2013) N. Shyh-Chang et al.   DEVELOPMENT

Mitochondria: Mitochondrial RNA metabolism and human disease

(2013) Thomas J. Nicholls et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

The Mouse Cytosine-5 RNA Methyltransferase NSun2 Is a Component of the Chromatoid Body and Required for Testis Differentiation

(2013) S. Hussain et al.   MOLECULAR AND CELLULAR BIOLOGY

Proteomic Mapping of Mitochondria in Living Cells via Spatially Restricted Enzymatic Tagging

(2013) H.-W. Rhee et al.   SCIENCE

NSun2-Mediated Cytosine-5 Methylation of Vault Noncoding RNA Determines Its Processing into Regulatory Small RNAs

(2013) Shobbir Hussain et al.   Cell Reports

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

(2012) Muzammil Ahmad Khan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

(2012) Daniele Ghezzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

(2012) Lia Abbasi-Moheb et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

(2012) Denise Cassandrini et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Whole exome sequencing identifies a splicing mutation inNSUN2as a cause of a Dubowitz-like syndrome

(2012) Fernando Jose Martinez et al.   JOURNAL OF MEDICAL GENETICS

RNA cytosine methylation by Dnmt2 and NSun2 promotes tRNA stability and protein synthesis

(2012) Francesca Tuorto et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Human Mitochondrial tRNAs: Biogenesis, Function, Structural Aspects, and Diseases

(2011) Tsutomu Suzuki et al.   Annual Review of Genetics

Bismark: a flexible aligner and methylation caller for Bisulfite-Seq applications

(2011) Felix Krueger et al.   BIOINFORMATICS

Modulation of mitochondrial biogenesis and bioenergetic metabolism upon in vitro and in vivo differentiation of human ES and iPS cells

(2011) Alessandro Prigione et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

(2011) Emma Glamuzina et al.   JOURNAL OF INHERITED METABOLIC DISEASE

MitoMiner: a data warehouse for mitochondrial proteomics data

(2011) A. C. Smith et al.   NUCLEIC ACIDS RESEARCH

TEFM (c17orf42) is necessary for transcription of human mtDNA

(2011) Michal Minczuk et al.   NUCLEIC ACIDS RESEARCH

The RNA–Methyltransferase Misu (NSun2) Poises Epidermal Stem Cells to Differentiate

(2011) Sandra Blanco et al.   PLoS Genetics

Novel insights into the assembly and function of human nuclear-encoded cytochromecoxidase subunits 4, 5a, 6a, 7a and 7b

(2010) Daniela Fornuskova et al.   BIOCHEMICAL JOURNAL

RNA methylation by Dnmt2 protects transfer RNAs against stress-induced cleavage

(2010) M. Schaefer et al.   GENES & DEVELOPMENT

Construction and testing of engineered zinc-finger proteins for sequence-specific modification of mtDNA

(2010) Michal Minczuk et al.   Nature Protocols

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

(2009) Avraham Zeharia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

5-methylcytosine in RNA: detection, enzymatic formation and biological functions

(2009) Yuri Motorin et al.   NUCLEIC ACIDS RESEARCH

DNA methylation landscapes: provocative insights from epigenomics

(2008) Miho M. Suzuki et al.   NATURE REVIEWS GENETICS