Impact of tRNA Modifications and tRNA-Modifying Enzymes on Proteostasis and Human Disease

High tRNA Transferase NSUN2 Gene Expression is Associated with Poor Prognosis in Head and Neck Squamous Carcinoma

(2018) Lingeng Lu et al.   CANCER INVESTIGATION

Pseudouridylation of tRNA-Derived Fragments Steers Translational Control in Stem Cells

(2018) Nicola Guzzi et al.   CELL

Modifications and functional genomics of human transfer RNA

(2018) Tao Pan   CELL RESEARCH

Elongator subunit 3 (ELP3) modifies ALS through tRNA modification

(2018) Andre Bento-Abreu et al.   HUMAN MOLECULAR GENETICS

The dysregulation of tRNAs and tRNA derivatives in cancer

(2018) Shi-qiong Huang et al.   JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH

Conditional accumulation of toxic tRNAs to cause amino acid misincorporation

(2018) Stephanie M Zimmerman et al.   NUCLEIC ACIDS RESEARCH

Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease

(2018) Kana Asano et al.   NUCLEIC ACIDS RESEARCH

Codon misreading tRNAs promote tumor growth in mice

(2018) Mafalda Santos et al.   RNA Biology

mRNA Translation Gone Awry: Translation Fidelity and Neurological Disease

(2018) Mridu Kapur et al.   TRENDS IN GENETICS

CO2-sensitive tRNA modification associated with human mitochondrial disease

(2018) Huan Lin et al.   Nature Communications

Elongator and codon bias regulate protein levels in mammalian peripheral neurons

(2018) Joy Goffena et al.   Nature Communications

Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis

(2018) Rachid Boutoual et al.   Scientific Reports

Defective Mitochondrial tRNA Taurine Modification Activates Global Proteostress and Leads to Mitochondrial Disease

(2018) Md Fakruddin et al.   Cell Reports

Pancreatic β-cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetes

(2018) Cristina Cosentino et al.   NUCLEIC ACIDS RESEARCH

RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis

(2018) Uwe Richter et al.   Nature Communications

A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome

(2018) Rajech Sharkia et al.   European Journal of Medical Genetics

tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy

(2017) Simon Edvardson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation

(2017) Feilong Meng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Transcriptome-wide measurement of translation by ribosome profiling

(2017) Nicholas J. McGlincy et al.   METHODS

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

MODOMICS: a database of RNA modification pathways. 2017 update

(2017) Pietro Boccaletto et al.   NUCLEIC ACIDS RESEARCH

Codon adaptation to tRNAs with Inosine modification at position 34 is widespread among Eukaryotes and present in two Bacterial phyla

(2017) Àlbert Rafels-Ybern et al.   RNA Biology

Discovery and function of transfer RNA-derived fragments and their role in disease

(2017) Ana Raquel Soares et al.   Wiley Interdisciplinary Reviews-RNA

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

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

Cdkal1, a type 2 diabetes susceptibility gene, regulates mitochondrial function in adipose tissue

(2017) Colin J. Palmer et al.   Molecular Metabolism

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

(2017) E. Taskesen et al.   Scientific Reports

ADAT3-related intellectual disability: Further delineation of the phenotype

(2016) Ayman W. El-Hattab et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

tRNA methyltransferase homologue geneTRMT10Amutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy

(2016) T. W. Yew et al.   DIABETIC MEDICINE

A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition

(2016) Ranad Shaheen et al.   HUMAN GENETICS

Elp3 links tRNA modification to IRES-dependent translation of LEF1 to sustain metastasis in breast cancer

(2016) Sylvain Delaunay et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Analysis of RNA modifications by liquid chromatography–tandem mass spectrometry

(2016) Kathrin Thüring et al.   METHODS

tRNA anticodon loop modifications ensure protein homeostasis and cell morphogenesis in yeast

(2016) Roland Klassen et al.   NUCLEIC ACIDS RESEARCH

Next-generation sequencing technologies for detection of modified nucleotides in RNAs

(2016) Schraga Schwartz et al.   RNA Biology

Lack of tRNA-i6A modification causes mitochondrial-like metabolic deficiency inS. pombeby limiting activity of cytosolic tRNATyr, not mito-tRNA

(2016) Tek N. Lamichhane et al.   RNA

Genome recoding by tRNA modifications

(2016) Francesca Tuorto et al.   Open Biology

ELP2is a novel gene implicated in neurodevelopmental disabilities

(2015) Julie S. Cohen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Role of Endoplasmic Reticulum Stress in Human Pathology

(2015) Scott A. Oakes et al.   Annual Review of Pathology-Mechanisms of Disease

Optimization of Codon Translation Rates via tRNA Modifications Maintains Proteome Integrity

(2015) Danny D. Nedialkova et al.   CELL

A Dynamic Unfolded Protein Response Contributes to the Control of Cortical Neurogenesis

(2015) Sophie Laguesse et al.   DEVELOPMENTAL CELL

Tauroursodeoxycholic acid in the treatment of patients with amyotrophic lateral sclerosis

(2015) A. E. Elia et al.   EUROPEAN JOURNAL OF NEUROLOGY

Defects in tRNA Anticodon Loop 2′-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations inFTSJ1

(2015) Michael P. Guy et al.   HUMAN MUTATION

Alzheimer's disease is associated with altered expression of genes involved in immune response and mitochondrial processes in astrocytes

(2015) Shobana Sekar et al.   NEUROBIOLOGY OF AGING

GtRNAdb 2.0: an expanded database of transfer RNA genes identified in complete and draft genomes

(2015) Patricia P. Chan et al.   NUCLEIC ACIDS RESEARCH

Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia

(2015) Mayumi Yoshida et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ER proteostasis addiction in cancer biology: Novel concepts

(2015) Estefanie Dufey et al.   SEMINARS IN CANCER BIOLOGY

Trm9-Catalyzed tRNA Modifications Regulate Global Protein Expression by Codon-Biased Translation

(2015) Wenjun Deng et al.   PLoS Genetics

Loss of Anticodon Wobble Uridine Modifications Affects tRNALys Function and Protein Levels in Saccharomyces cerevisiae

(2015) Roland Klassen et al.   PLoS One

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

(2015) Behzad Davarniya et al.   PLoS One

Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation

(2015) Sharon Lefler et al.   PLoS One

Elongator, a conserved complex required for wobble uridine modifications in Eukaryotes

(2015) Tony Karlsborn et al.   RNA Biology

Familial dysautonomia (FD) patients have reduced levels of the modified wobble nucleoside mcm5s2U in tRNA

(2014) Tony Karlsborn et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

(2014) S. Blanco et al.   EMBO JOURNAL

Analysis ofELP4,SRPX2, and interacting genes in typical and atypical rolandic epilepsy

(2014) Eva M. Reinthaler et al.   EPILEPSIA

A-to-I editing on tRNAs: Biochemical, biological and evolutionary implications

(2014) Adrian Gabriel Torres et al.   FEBS LETTERS

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

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

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

(2014) Marka van Blitterswijk et al.   Molecular Neurodegeneration

Role of tRNA modifications in human diseases

(2014) Adrian Gabriel Torres et al.   TRENDS IN MOLECULAR MEDICINE

A Nutrient-Driven tRNA Modification Alters Translational Fidelity and Genome-wide Protein Coding across an Animal Genus

(2014) John M. Zaborske et al.   PLOS BIOLOGY

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

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

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

tRNA tKUUU, tQUUG, and tEUUC wobble position modifications fine-tune protein translation by promoting ribosome A-site binding

(2013) V. A. N. Rezgui et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Overexpression of initiator methionine tRNA leads to global reprogramming of tRNA expression and increased proliferation in human epithelial cells

(2013) M. Pavon-Eternod et al.   RNA

Ikbkap/Elp1 Deficiency Causes Male Infertility by Disrupting Meiotic Progression

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

Modification of tRNALysUUU by Elongator Is Essential for Efficient Translation of Stress mRNAs

(2013) Jorge Fernández-Vázquez 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

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

Role of taurine in the pathologies of MELAS and MERRF

(2012) Stephen W. Schaffer et al.   AMINO ACIDS

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

Translational infidelity-induced protein stress results from a deficiency in Trm9-catalyzed tRNA modifications

(2012) Ashish Patil et al.   RNA Biology

Trmt61B is a methyltransferase responsible for 1-methyladenosine at position 58 of human mitochondrial tRNAs

(2012) T. Chujo et al.   RNA

Functional loss of Cdkal1, a novel tRNA modification enzyme, causes the development of type 2 diabetes [Review]

(2011) Fan-Yan Wei et al.   ENDOCRINE JOURNAL

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

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

(2011) Sandra Blanco et al.   PLoS Genetics

tRNA biology charges to the front

(2010) E. M. Phizicky 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

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

Loss-of-function of IKAP/ELP1

(2010) Tiina Naumanen et al.   Cell Adhesion & Migration

Queuosine modification of tRNA: its divergent role in cellular machinery

(2009) Manjula Vinayak et al.   BIOSCIENCE REPORTS

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

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

Do all modifications benefit all tRNAs?

(2009) Eric M. Phizicky et al.   FEBS LETTERS

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

(2009) Changchun Chen et al.   PLoS Genetics

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

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

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