The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders

mRNA Translation Gone Awry: Translation Fidelity and Neurological Disease

(2018) Mridu Kapur et al.   TRENDS IN GENETICS

Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death

(2017) Siqi Cao et al.   HUMAN MOLECULAR GENETICS

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy

(2017) Tojo Nakayama et al.   HUMAN MUTATION

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

(2017) Luciana Musante et al.   HUMAN MUTATION

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

(2017) Andrew S Allen et al.   LANCET NEUROLOGY

Proteomic analysis of postsynaptic proteins in regions of the human neocortex

(2017) Marcia Roy et al.   NATURE NEUROSCIENCE

Regulation of mRNA Translation in Neurons—A Matter of Life and Death

(2017) Mridu Kapur et al.   NEURON

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

(2017) Miriam S. Reuter et al.   JAMA Psychiatry

Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice

(2017) Faith C. J. Davies et al.   Scientific Reports

Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations

(2016) Takehiko Inui et al.   BRAIN & DEVELOPMENT

Identification of novel genetic causes of Rett syndrome-likephenotypes

(2016) Fátima Lopes et al.   JOURNAL OF MEDICAL GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

Novel de novoEEF1A2missense mutations causing epilepsy and intellectual disability

(2016) Wayne W.K. Lam et al.   Molecular Genetics & Genomic Medicine

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

(2016) Carolien G.F. de Kovel et al.   Molecular Genetics & Genomic Medicine

Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders

(2015) Nidhi Sahni et al.   CELL

Array-Comparative Genomic Hybridization Analysis of a Cohort of Saudi Patients with Epilepsy

(2015) Muhammad Faheem et al.   CNS & Neurological Disorders-Drug Targets

A non-catalytic N-terminal domain negatively influences the nucleotide exchange activity of translation elongation factor 1Bα

(2015) Tetiana V. Trosiuk et al.   FEBS Journal

Regulation of Translation Factor EEF1D Gene Function by Alternative Splicing

(2015) Taku Kaitsuka et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Mutations in the mitochondrial cysteinyl-tRNA synthase gene,CARS2,lead to a severe epileptic encephalopathy and complex movement disorder

(2015) Curtis R Coughlin et al.   JOURNAL OF MEDICAL GENETICS

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

(2015) Ender Karaca et al.   NEURON

A molecular model for neurodevelopmental disorders

(2015) C O Gigek et al.   Translational Psychiatry

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

(2014) Xiaochang Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo EEF1A2mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

(2014) J. Nakajima et al.   CLINICAL GENETICS

The developmental transcriptome of the human brain

(2014) Andrew T.N. Tebbenkamp et al.   CURRENT OPINION IN NEUROLOGY

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy

(2014) Hirofumi Kodera et al.   JOURNAL OF HUMAN GENETICS

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Mammalian translation elongation factor eEF1A2: X-ray structure and new features of GDP/GTP exchange mechanism in higher eukaryotes

(2014) Thibaut Crepin et al.   NUCLEIC ACIDS RESEARCH

Characterisation of Translation Elongation Factor eEF1B Subunit Expression in Mammalian Cells and Tissues and Co-Localisation with eEF1A2

(2014) Yuan Cao et al.   PLoS One

Human tRNA synthetase catalytic nulls with diverse functions

(2014) W.-S. Lo et al.   SCIENCE

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

(2013) Ryan J. Taft et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Effects of two elongation factor 1A isoforms on the formation of gephyrin clusters at inhibitory synapses in hippocampal neurons

(2013) Michal Becker et al.   HISTOCHEMISTRY AND CELL BIOLOGY

The translation of translational control by FMRP: therapeutic targets for FXS

(2013) Jennifer C Darnell et al.   NATURE NEUROSCIENCE

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

(2012) Aimée Vester et al.   HUMAN MUTATION

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

The many roles of the eukaryotic elongation factor 1 complex

(2012) Arjun N. Sasikumar et al.   Wiley Interdisciplinary Reviews-RNA

Transformation of eEF1Bδ into heat-shock response transcription factor by alternative splicing

(2011) Taku Kaitsuka et al.   EMBO REPORTS

A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

(2011) Heather M. McLaughlin et al.   HUMAN MUTATION

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

Temporal dynamics and genetic control of transcription in the human prefrontal cortex

(2011) Carlo Colantuoni et al.   NATURE

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Neuronal Activity-Regulated Gene Transcription in Synapse Development and Cognitive Function

(2011) A. E. West et al.   Cold Spring Harbor Perspectives in Biology

eEF1A: Thinking Outside the Ribosome

(2010) Maria K. Mateyak et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Characterization of the proteome, diseases and evolution of the human postsynaptic density

(2010) Àlex Bayés et al.   NATURE NEUROSCIENCE

eEF1A2 and neuronal degeneration

(2009) Catherine M. Abbott et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

mRNA Localization: Gene Expression in the Spatial Dimension

(2009) Kelsey C. Martin et al.   CELL

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Structural Models of Human eEF1A1 and eEF1A2 Reveal Two Distinct Surface Clusters of Sequence Variation and Potential Differences in Phosphorylation

(2009) Dinesh C. Soares et al.   PLoS One