Lost in Translation: Defects in Transfer RNA Modifications and Neurological Disorders

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

Nucleoside modifications in the regulation of gene expression: focus on tRNA

(2016) Markus Duechler et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

(2016) Ranad Shaheen et al.   HUMAN GENETICS

Structural basis for tRNA modification by Elp3 from Dehalococcoides mccartyi

(2016) Sebastian Glatt et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

In vivomodification of tRNA with an artificial nucleobase leads to full disease remission in an animal model of multiple sclerosis

(2016) Sreeja Varghese et al.   NUCLEIC ACIDS RESEARCH

The emerging biology of RNA post-transcriptional modifications

(2016) Sigrid Nachtergaele et al.   RNA Biology

Structural basis for tRNA modification by Elp3 from Dehalococcoides mccartyi

(2016) Sebastian Glatt et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The Many Faces of Elongator in Neurodevelopment and Disease

(2016) Marija Kojic et al.   Frontiers in Molecular Neuroscience

ELP2is a novel gene implicated in neurodevelopmental disabilities

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

Frequencies of Six (Five Novel) STR Markers Linked to TUSC3 (MRT7) or NSUN2 (MRT5) Genes Used for Homozygosity Mapping of Recessive Intellectual Disability

(2015) Shirin Ghadami et al.   Clinical Laboratory

Structure of the Elongator cofactor complex Kti11/Kti13 provides insight into the role of Kti13 in Elongator-dependent tRNA modification

(2015) Olga Kolaj-Robin et al.   FEBS Journal

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

Effects of tRNA modification on translational accuracy depend on intrinsic codon–anticodon strength

(2015) Nandini Manickam et al.   NUCLEIC ACIDS RESEARCH

Codon-biased translation can be regulated by wobble-base tRNA modification systems during cellular stress responses

(2015) Lauren Endres et al.   RNA Biology

Post-transcriptional modifications to tRNA—a response to the genetic code degeneracy

(2015) Ya-Ming Hou et al.   RNA

Plant, Animal, and Fungal Micronutrient Queuosine Is Salvaged by Members of the DUF2419 Protein Family

(2014) Rémi Zallot et al.   ACS Chemical 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

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

(2014) Eva M. Reinthaler et al.   EPILEPSIA

tRNA modifications regulate translation during cellular stress

(2014) Chen Gu et al.   FEBS LETTERS

Role of tRNA modifications in human diseases

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

Inferring gene function from evolutionary change in signatures of translation efficiency

(2014) Anita Krisko et al.   GENOME BIOLOGY

Methylated nucleosides in tRNA and tRNA methyltransferases

(2014) Hiroyuki Hori   Frontiers in 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

Identification of direct targets and modified bases of RNA cytosine methyltransferases

(2013) Vahid Khoddami et al.   NATURE BIOTECHNOLOGY

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

(2013) Shobbir Hussain et al.   Cell Reports

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

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

Biosynthesis and Function of Posttranscriptional Modifications of Transfer RNAs

(2012) Basma El Yacoubi et al.   Annual Review of Genetics

A coordinated codon-dependent regulation of translation by Elongator

(2012) Fanelie Bauer et al.   CELL CYCLE

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

Reprogramming of tRNA modifications controls the oxidative stress response by codon-biased translation of proteins

(2012) Clement T.Y. Chan et al.   Nature Communications

Transfer RNA modifications: nature's combinatorial chemistry playground

(2012) Jane E. Jackman et al.   Wiley Interdisciplinary Reviews-RNA

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

Queuosine Deficiency in Eukaryotes Compromises Tyrosine Production through Increased Tetrahydrobiopterin Oxidation

(2011) Tatsiana Rakovich et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Structural Basis for Methyl Transfer by a Radical SAM Enzyme

(2011) A. K. Boal et al.   SCIENCE

tRNA biology charges to the front

(2010) E. M. Phizicky et al.   GENES & DEVELOPMENT

Characterization of the human tRNA-guanine transglycosylase: Confirmation of the heterodimeric subunit structure

(2010) Y. C. Chen et al.   RNA

Queuosine modification of tRNA: its divergent role in cellular machinery

(2009) Manjula Vinayak et al.   BIOSCIENCE REPORTS

Elongator – an emerging role in neurological disorders

(2009) Laurent Nguyen et al.   TRENDS IN MOLECULAR MEDICINE

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

(2009) Changchun Chen et al.   PLoS Genetics

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

(2008) Chandramani Pathak et al.   BIOSCIENCE REPORTS

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

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

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

(2008) Pingyuan Gong et al.   JOURNAL OF NEUROGENETICS

Eukaryotic Wobble Uridine Modifications Promote a Functionally Redundant Decoding System

(2008) M. J. O. Johansson et al.   MOLECULAR AND CELLULAR BIOLOGY

MODOMICS: a database of RNA modification pathways. 2008 update

(2008) A. Czerwoniec et al.   NUCLEIC ACIDS RESEARCH