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

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

(2015) H Hu et al.   MOLECULAR PSYCHIATRY

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

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

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

Conservation of an intricate circuit for crucial modifications of the tRNAPheanticodon loop in eukaryotes

(2014) Michael P. Guy et al.   RNA

Functional importance of Ψ38and Ψ39in distinct tRNAs, amplified for tRNAGln(UUG)by unexpected temperature sensitivity of the s2U modification in yeast

(2014) Lu Han et al.   RNA

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

(2014) R. Ishimura et al.   SCIENCE

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

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

(2013) S. Fahiminiya et al.   CLINICAL GENETICS

Transfer RNA Post-Transcriptional Processing, Turnover, and Subcellular Dynamics in the YeastSaccharomyces cerevisiae

(2013) Anita K. Hopper   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

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

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

MODOMICS: a database of RNA modification pathways—2013 update

(2012) Magdalena A. Machnicka 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

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

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

The yeast rapid tRNA decay pathway primarily monitors the structural integrity of the acceptor and T-stems of mature tRNA

(2011) J. M. Whipple et al.   GENES & DEVELOPMENT

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

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

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

Do all modifications benefit all tRNAs?

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

Degradation of several hypomodified mature tRNA species in Saccharomyces cerevisiae is mediated by Met22 and the 5'-3' exonucleases Rat1 and Xrn1

(2008) I. Chernyakov et al.   GENES & DEVELOPMENT

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

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

GtRNAdb: a database of transfer RNA genes detected in genomic sequence

(2008) P. P. Chan et al.   NUCLEIC ACIDS RESEARCH

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