Modify or die? - RNA modification defects in metazoans

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

(2014) Ender Karaca et al.   CELL

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

(2014) Ashleigh E. Schaffer et al.   CELL

Mammalian WTAP is a regulatory subunit of the RNA N6-methyladenosine methyltransferase

(2014) Xiao-Li Ping et al.   CELL RESEARCH

TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly

(2014) David Gillis et al.   JOURNAL OF MEDICAL GENETICS

Obesity-associated variants within FTO form long-range functional connections with IRX3

(2014) Scott Smemo et al.   NATURE

N6-methyladenosine modification destabilizes developmental regulators in embryonic stem cells

(2014) Yang Wang et al.   NATURE CELL BIOLOGY

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

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

Loss of FTO Antagonises Wnt Signaling and Leads to Developmental Defects Associated with Ciliopathies

(2014) Daniel P. S. Osborn et al.   PLoS One

Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration

(2014) R. Ishimura et al.   SCIENCE

A Comprehensive tRNA Deletion Library Unravels the Genetic Architecture of the tRNA Pool

(2014) Zohar Bloom-Ackermann et al.   PLoS Genetics

Predicting the Minimal Translation Apparatus: Lessons from the Reductive Evolution of Mollicutes

(2014) Henri Grosjean 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

Quantitative PCR Measurement of tRNA 2-Methylthio Modification for Assessing Type 2 Diabetes Risk

(2013) P. Xie et al.   CLINICAL CHEMISTRY

Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar

(2013) S. Fahiminiya et al.   CLINICAL GENETICS

Efficient RNA virus control in Drosophila requires the RNA methyltransferase Dnmt2

(2013) Zeljko Durdevic et al.   EMBO REPORTS

Expression of NOL1/NOP2/sun domain (Nsun) RNA methyltransferase family genes in early mouse embryogenesis

(2013) Lijun Chi et al.   GENE EXPRESSION PATTERNS

Mutation inADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus

(2013) Anas M Alazami et al.   JOURNAL OF MEDICAL GENETICS

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

CLP1 links tRNA metabolism to progressive motor-neuron loss

(2013) Toshikatsu Hanada et al.   NATURE

A METTL3–METTL14 complex mediates mammalian nuclear RNA N6-adenosine methylation

(2013) Jianzhao Liu et al.   Nature Chemical Biology

The fat mass and obesity associated gene (Fto) regulates activity of the dopaminergic midbrain circuitry

(2013) Martin E Hess et al.   NATURE NEUROSCIENCE

FTO Gene Variant and Risk of Overweight and Obesity among Children and Adolescents: a Systematic Review and Meta-Analysis

(2013) Chibo Liu et al.   PLoS One

Conservation of structure and mechanism by Trm5 enzymes

(2013) T. Christian et al.   RNA

FTO-mediated formation of N6-hydroxymethyladenosine and N6-formyladenosine in mammalian RNA

(2013) Ye Fu et al.   Nature Communications

The RNA Methyltransferase Dnmt2 Is Required for Efficient Dicer-2-Dependent siRNA Pathway Activity in Drosophila

(2013) Zeljko Durdevic et al.   Cell Reports

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

(2013) Shobbir Hussain et al.   Cell Reports

Ikbkap/Elp1 Deficiency Causes Male Infertility by Disrupting Meiotic Progression

(2013) Fu-Jung Lin et al.   PLoS Genetics

tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans

(2013) Mariana Igoillo-Esteve et al.   PLoS Genetics

Mapping and significance of the mRNA methylome

(2013) Tennille Sibbritt et al.   Wiley Interdisciplinary Reviews-RNA

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 in NSUN2 Cause Autosomal- Recessive Intellectual Disability

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

Comprehensive Analysis of mRNA Methylation Reveals Enrichment in 3′ UTRs and near Stop Codons

(2012) Kate D. Meyer et al.   CELL

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia

(2012) Paula Dietrich et al.   HUMAN MOLECULAR GENETICS

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

ALKBH5 Is a Mammalian RNA Demethylase that Impacts RNA Metabolism and Mouse Fertility

(2012) Guanqun Zheng et al.   MOLECULAR CELL

Associations between maternal genotypes and metabolites implicated in congenital heart defects

(2012) Shimul Chowdhury et al.   MOLECULAR GENETICS AND METABOLISM

The protective effect of the obesity-associated rs9939609 A variant in fat mass- and obesity-associated gene on depression

(2012) Z Samaan et al.   MOLECULAR PSYCHIATRY

Topology of the human and mouse m6A RNA methylomes revealed by m6A-seq

(2012) Dan Dominissini et al.   NATURE

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

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

Widespread occurrence of 5-methylcytosine in human coding and non-coding RNA

(2012) Jeffrey E. Squires et al.   NUCLEIC ACIDS RESEARCH

Yeast Trm7 interacts with distinct proteins for critical modifications of the tRNAPhe anticodon loop

(2012) M. P. Guy et al.   RNA

The tRNA methyltransferase NSun2 stabilizes p16INK4 mRNA by methylating the 3′-untranslated region of p16

(2012) Xiaotian Zhang et al.   Nature Communications

Drosophila poly suggests a novel role for the Elongator complex in insulin receptor-target of rapamycin signalling

(2012) E. Bolukbasi et al.   Open Biology

Adenosine Methylation in Arabidopsis mRNA is Associated with the 3′ End and Reduced Levels Cause Developmental Defects

(2012) Zsuzsanna Bodi et al.   Frontiers in Plant Science

MTERF4 Regulates Translation by Targeting the Methyltransferase NSUN4 to the Mammalian Mitochondrial Ribosome

(2011) Yolanda Cámara et al.   Cell Metabolism

Transfer RNA Methytransferases and Their Corresponding Modifications in Budding Yeast and Humans: Activities, Predications, and Potential Roles in Human Health

(2011) William L. Towns et al.   DNA AND CELL BIOLOGY

Deficit of tRNALys modification by Cdkal1 causes the development of type 2 diabetes in mice

(2011) Fan-Yan Wei et al.   JOURNAL OF CLINICAL INVESTIGATION

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

N6-Methyladenosine in nuclear RNA is a major substrate of the obesity-associated FTO

(2011) Guifang Jia et al.   Nature Chemical Biology

Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia

(2011) Felicia B Axelrod et al.   PEDIATRIC RESEARCH

Large Scale Association Analysis Identifies Three Susceptibility Loci for Coronary Artery Disease

(2011) Stephanie Saade et al.   PLoS One

Deletion of Exon 20 of the Familial Dysautonomia Gene Ikbkap in Mice Causes Developmental Delay, Cardiovascular Defects, and Early Embryonic Lethality

(2011) Paula Dietrich et al.   PLoS One

Drosophila Inducer of MEiosis 4 (IME4) is required for Notch signaling during oogenesis

(2011) C. F. Hongay et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2011) Sandra Blanco et al.   PLoS Genetics

Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs

(2011) Suzuki Tsutomu et al.   Wiley Interdisciplinary Reviews-RNA

Inverse association of the obesity predisposing FTO rs9939609 genotype with alcohol consumption and risk for alcohol dependence

(2010) Agnieszka Sobczyk-Kopciol et al.   ADDICTION

Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): Fine mapping andFTOgene expression study

(2010) Linda van den Berg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Modulation in the activity of lactate dehydrogenase and level of c-Myc and c-Fos by modified base queuine in cancer

(2010) Chandramani Pathak et al.   CANCER BIOLOGY & THERAPY

Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development

(2010) AW El-Hattab et al.   CLINICAL GENETICS

A pure likelihood approach to the analysis of genetic association data: an alternative to Bayesian and frequentist analysis

(2010) Lisa J Strug et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

Identification of Eukaryotic and Prokaryotic Methylthiotransferase for Biosynthesis of 2-Methylthio-N6-threonylcarbamoyladenosine in tRNA

(2010) Simon Arragain et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis

(2010) Shozo Honda et al.   JOURNAL OF HUMAN GENETICS

Mammalian ALKBH8 Possesses tRNA Methyltransferase Activity Required for the Biogenesis of Multiple Wobble Uridine Modifications Implicated in Translational Decoding

(2010) L. Songe-Moller et al.   MOLECULAR AND CELLULAR BIOLOGY

Distinct high resolution genome profiles of early onset and late onset colorectal cancer integrated with gene expression data identify candidate susceptibility loci

(2010) Marianne Berg et al.   Molecular Cancer

Elongator function in tRNA wobble uridine modification is conserved between yeast and plants

(2010) Constance Mehlgarten et al.   MOLECULAR MICROBIOLOGY

Overexpression of Fto leads to increased food intake and results in obesity

(2010) Chris Church et al.   NATURE GENETICS

The TOR Pathway Modulates the Structure of Cell Walls inArabidopsis

(2010) Ruth-Maria Leiber et al.   PLANT CELL

Deletion of CDKAL1 Affects Mitochondrial ATP Generation and First-Phase Insulin Exocytosis

(2010) Mica Ohara-Imaizumi et al.   PLoS One

The Fat Mass and Obesity Associated Gene FTO Functions in the Brain to Regulate Postnatal Growth in Mice

(2010) Xue Gao et al.   PLoS One

Unique features of animal mitochondrial translation systems

(2010) Kimitsuna WATANABE   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

A commonly carried allele of the obesity-related FTO gene is associated with reduced brain volume in the healthy elderly

(2010) A. J. Ho et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

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

Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

(2009) Sarah Boissel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An association study of 45 folate-related genes in spina bifida: Involvement ofcubilin(CUBN) andtRNA aspartic acid methyltransferase 1(TRDMT1)

(2009) Barbara Franke et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Azacytidine Inhibits RNA Methylation at DNMT2 Target Sites in Human Cancer Cell Lines

(2009) M. Schaefer et al.   CANCER RESEARCH

A Novel Human AlkB Homologue, ALKBH8, Contributes to Human Bladder Cancer Progression

(2009) K. Shimada et al.   CANCER RESEARCH

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)

(2009) Lisa J Strug et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Differential contribution of CDKAL1 variants to psoriasis, Crohn's disease and type II diabetes

(2009) M Quaranta et al.   GENES AND IMMUNITY

Ubiquitin-related modifier Urm1 acts as a sulphur carrier in thiolation of eukaryotic transfer RNA

(2009) Sebastian Leidel et al.   NATURE

Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs

(2009) Gabsang Lee et al.   NATURE

Inactivation of the Fto gene protects from obesity

(2009) Julia Fischer et al.   NATURE

Defects in tRNA Modification Associated with Neurological and Developmental Dysfunctions in Caenorhabditis elegans Elongator Mutants

(2009) Changchun Chen et al.   PLoS Genetics

A Mouse Model for the Metabolic Effects of the Human Fat Mass and Obesity Associated FTO Gene

(2009) Chris Church et al.   PLoS Genetics

Queuine promotes antioxidant defence system by activating cellular antioxidant enzyme activities in cancer

(2008) Chandramani Pathak et al.   BIOSCIENCE REPORTS

Wtap is required for differentiation of endoderm and mesoderm in the mouse embryo

(2008) Yoshiyasu Fukusumi et al.   DEVELOPMENTAL DYNAMICS

Polymorphisms in the TCF7L2, CDKAL1 and SLC30A8 genes are associated with impaired proinsulin conversion

(2008) K. Kirchhoff et al.   DIABETOLOGIA

Variants of CDKAL1 and IGF2BP2 affect first-phase insulin secretion during hyperglycaemic clamps

(2008) M. J. Groenewoud et al.   DIABETOLOGIA

Urm1 at the crossroad of modifications. ‘Protein Modifications: Beyond the Usual Suspects’ Review Series

(2008) Patrick G A Pedrioli et al.   EMBO REPORTS

Oxidative demethylation of 3-methylthymine and 3-methyluracil in single-stranded DNA and RNA by mouse and human FTO

(2008) Guifang Jia et al.   FEBS LETTERS

High-resolution genomic and expression analyses of copy number alterations in breast tumors

(2008) Peter M. Haverty et al.   GENES CHROMOSOMES & CANCER

Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration

(2008) Claire L. Simpson et al.   HUMAN MOLECULAR GENETICS

Single-Nucleotide Polymorphism rs7754840 ofCDKAL1Is Associated with Impaired Insulin Secretion in Nondiabetic Offspring of Type 2 Diabetic Subjects and in a Large Sample of Men with Normal Glucose Tolerance

(2008) Alena Stančáková et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects

(2008) Ling Dai et al.   JOURNAL OF HUMAN GENETICS

Genetic Variations in FTSJ1 Influence Cognitive Ability in Young Males in the Chinese Han Population

(2008) Pingyuan Gong et al.   JOURNAL OF NEUROGENETICS

Loss of Mouse Ikbkap, a Subunit of Elongator, Leads to Transcriptional Deficits and Embryonic Lethality That Can Be Rescued by Human IKBKAP

(2008) Y.-T. Chen et al.   MOLECULAR AND CELLULAR BIOLOGY

Characterization of Human GTPBP3, a GTP-Binding Protein Involved in Mitochondrial tRNA Modification

(2008) M. Villarroya et al.   MOLECULAR AND CELLULAR BIOLOGY

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

(2008) Jeffrey C Barrett et al.   NATURE GENETICS

RNA cytosine methylation analysis by bisulfite sequencing

(2008) M. Schaefer et al.   NUCLEIC ACIDS RESEARCH

MTA Is an Arabidopsis Messenger RNA Adenosine Methylase and Interacts with a Homolog of a Sex-Specific Splicing Factor

(2008) S. Zhong et al.   PLANT CELL

A loss-of-function mutation in theFTSJ1 gene causes nonsyndromic X-linked mental retardation in a japanese family

(2007) Kyoko Takano et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS