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

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

(2016) Ranad Shaheen et al.   HUMAN GENETICS

Proteomic analysis of the human KEOPS complex identifies C14ORF142 as a core subunit homologous to yeast Gon7

(2016) Leo C.K. Wan et al.   NUCLEIC ACIDS RESEARCH

KAEA (SUDPRO), a member of the ubiquitous KEOPS/EKC protein complex, regulates the arginine catabolic pathway and the expression of several other genes in Aspergillus nidulans

(2015) Agnieszka Dzikowska et al.   GENE

The Levels of a Universally Conserved tRNA Modification Regulate Cell Growth

(2015) Diego Rojas-Benitez et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Essentiality of threonylcarbamoyladenosine (t6A), a universal tRNA modification, in bacteria

(2015) Patrick C. Thiaville et al.   MOLECULAR MICROBIOLOGY

An extensive allelic series ofDrosophila kae1mutants reveals diverse and tissue-specific requirements for t6A biogenesis

(2015) Ching-Jung Lin et al.   RNA

Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease

(2015) Christopher A. Powell et al.   Frontiers in Genetics

Diversity of the biosynthesis pathway for threonylcarbamoyladenosine (t6A), a universal modification of tRNA

(2015) Patrick C Thiaville et al.   RNA Biology

Modify or die? - RNA modification defects in metazoans

(2015) L Peter Sarin et al.   RNA Biology

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

(2014) Estelle Colin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cross Kingdom Functional Conservation of the Core Universally Conserved Threonylcarbamoyladenosine tRNA Synthesis Enzymes

(2014) Patrick C. Thiaville et al.   EUKARYOTIC CELL

Consanguinity profile in the Gaza Strip of Palestine: Large-scale community-based study

(2014) Mahmoud M. Sirdah   European Journal of Medical Genetics

Kinase-associated Endopeptidase 1 (Kae1) Participates in an Atypical Ribosome-associated Complex in the Apicoplast ofPlasmodium falciparum

(2014) Jeremy P. Mallari et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Discovery of the β-barrel–type RNA methyltransferase responsible forN6-methylation ofN6-threonylcarbamoyladenosine in tRNAs

(2014) Satoshi Kimura et al.   NUCLEIC ACIDS RESEARCH

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

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

Functional assignment of KEOPS/EKC complex subunits in the biosynthesis of the universal t 6 A tRNA modification

(2013) Ludovic Perrochia et al.   NUCLEIC ACIDS RESEARCH

Reconstitution and characterization of eukaryotic N6-threonylcarbamoylation of tRNA using a minimal enzyme system

(2013) Leo C. K. Wan et al.   NUCLEIC ACIDS RESEARCH

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 cyclic form of N6-threonylcarbamoyladenosine as a widely distributed tRNA hypermodification

(2012) Kenjyo Miyauchi et al.   Nature Chemical Biology

In vitro biosynthesis of a universal t6A tRNA modification in Archaea and Eukarya

(2012) Ludovic Perrochia et al.   NUCLEIC ACIDS RESEARCH

MODOMICS: a database of RNA modification pathways—2013 update

(2012) Magdalena A. Machnicka et al.   NUCLEIC ACIDS RESEARCH

Human gene copy number spectra analysis in congenital heart malformations

(2012) Aoy Tomita-Mitchell et al.   PHYSIOLOGICAL GENOMICS

Transfer RNA modifications: nature's combinatorial chemistry playground

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

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

(2011) Ruth Belostotsky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A role for the universal Kae1/Qri7/YgjD (COG0533) family in tRNA modification

(2011) Basma El Yacoubi et al.   EMBO JOURNAL

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

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

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

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations

(2009) Detlef Bockenhauer et al.   NEW ENGLAND JOURNAL OF MEDICINE

The universal YrdC/Sua5 family is required for the formation of threonylcarbamoyladenosine in tRNA

(2009) B. El Yacoubi et al.   NUCLEIC ACIDS RESEARCH

Atomic Structure of the KEOPS Complex: An Ancient Protein Kinase-Containing Molecular Machine

(2008) Daniel Y.L. Mao et al.   MOLECULAR CELL