Aminoacyl-tRNA synthetases in medicine and disease

Th17 Cells

(2012) Mohan S. Maddur et al.   AMERICAN JOURNAL OF PATHOLOGY

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

(2012) Marjan E. Steenweg et al.   BRAIN

Leucyl-tRNA Synthetase Is an Intracellular Leucine Sensor for the mTORC1-Signaling Pathway

(2012) Jung Min Han et al.   CELL

Coding Region Polyadenylation Generates a Truncated tRNA Synthetase that Counters Translation Repression

(2012) Peng Yao et al.   CELL

Interaction of two translational components, lysyl-tRNA synthetase and p40/37LRP, in plasma membrane promotes laminin-dependent cell migration

(2012) Dae Gyu Kim et al.   FASEB JOURNAL

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

(2012) Jenni M. Elo et al.   HUMAN MOLECULAR GENETICS

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

(2012) Florin Sasarman et al.   HUMAN MUTATION

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

(2012) Denise Cassandrini et al.   JOURNAL OF INHERITED METABOLIC DISEASE

AIMP3/p18 Controls Translational Initiation by Mediating the Delivery of Charged Initiator tRNA to Initiation Complex

(2012) Taehee Kang et al.   JOURNAL OF MOLECULAR BIOLOGY

Protection of Extraribosomal RPL13a by GAPDH and Dysregulation by S-Nitrosylation

(2012) Jie Jia et al.   MOLECULAR CELL

Leucyl-tRNA Synthetase Controls TORC1 via the EGO Complex

(2012) Grégory Bonfils et al.   MOLECULAR CELL

Trp-tRNA synthetase bridges DNA-PKcs to PARP-1 to link IFN-γ and p53 signaling

(2012) Mathew Sajish et al.   Nature Chemical Biology

Halofuginone and other febrifugine derivatives inhibit prolyl-tRNA synthetase

(2012) Tracy L Keller et al.   Nature Chemical Biology

Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy

(2012) Z. Zhao et al.   NEUROLOGY

Cancer Association Study of Aminoacyl-tRNA Synthetase Signaling Network in Glioblastoma

(2012) Yong-Wan Kim et al.   PLoS One

Secreted human glycyl-tRNA synthetase implicated in defense against ERK-activated tumorigenesis

(2012) M. C. Park et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Unique domain appended to vertebrate tRNA synthetase is essential for vascular development

(2012) Xiaoling Xu et al.   Nature Communications

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

(2012) Vafa Bayat et al.   PLOS BIOLOGY

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

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

(2011) Alexandra Götz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria

(2011) Marie Messmer et al.   BIOCHEMICAL JOURNAL

Dominant Intermediate Charcot-Marie-Tooth Disorder Is Not Due to a Catalytic Defect in Tyrosyl-tRNA Synthetase

(2011) Clifford A. Froelich et al.   BIOCHEMISTRY

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

Local RNA Translation at the Synapse and in Disease

(2011) L. Liu-Yesucevitz et al.   JOURNAL OF NEUROSCIENCE

The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

(2011) Kon-Ping Lin et al.   PLoS One

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

(2011) S. B. Pierce et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening

(2011) W. He et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dual role of methionyl-tRNA synthetase in the regulation of translation and tumor suppressor activity of aminoacyl-tRNA synthetase-interacting multifunctional protein-3

(2011) N. H. Kwon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels

(2011) William W. Motley et al.   PLoS Genetics

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

(2010) Lisa G. Riley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

(2010) Philippe Latour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

(2010) Heather M. McLaughlin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene

(2010) Jaime Lin et al.   JOURNAL OF CHILD NEUROLOGY

Charcot–Marie–Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation

(2010) Ayumi Hamaguchi et al.   JOURNAL OF NEUROLOGY

Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations

(2010) Pierre Labauge et al.   JOURNAL OF NEUROLOGY

Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNALeu(UUR) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes

(2010) R. Li et al.   MOLECULAR AND CELLULAR BIOLOGY

An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations

(2010) Morgane Stum et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

New functions of aminoacyl-tRNA synthetases beyond translation

(2010) Min Guo et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

GARS axonopathy: not every neuron's cup of tRNA

(2010) William W. Motley et al.   TRENDS IN NEUROSCIENCES

mTORC1 signaling: what we still don't know

(2010) X. Wang et al.   Journal of Molecular Cell Biology

Mitochondrial tRNA mutations and disease

(2010) John W. Yarham et al.   Wiley Interdisciplinary Reviews-RNA

Genetic Evidence for a Noncanonical Function of Seryl-tRNA Synthetase in Vascular Development

(2009) Wiebke Herzog et al.   CIRCULATION RESEARCH

Noncanonical Activity of Seryl-tRNA Synthetase Is Involved in Vascular Development

(2009) Hajime Fukui et al.   CIRCULATION RESEARCH

An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy

(2009) F. Achilli et al.   Disease Models & Mechanisms

Two-Site Phosphorylation of EPRS Coordinates Multimodal Regulation of Noncanonical Translational Control Activity

(2009) Abul Arif et al.   MOLECULAR CELL

LysRS Serves as a Key Signaling Molecule in the Immune Response by Regulating Gene Expression

(2009) Nurit Yannay-Cohen et al.   MOLECULAR CELL

Mutant Glycyl-tRNA Synthetase (Gars) Ameliorates SOD1G93A Motor Neuron Degeneration Phenotype but Has Little Affect on Loa Dynein Heavy Chain Mutant Mice

(2009) Gareth T. Banks et al.   PLoS One

Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate inDrosophilafeatures of human Charcot–Marie–Tooth neuropathy

(2009) Erik Storkebaum et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

(2008) Anthony Antonellis et al.   Annual Review of Genomics and Human Genetics

Implication of leucyl-tRNA synthetase 1 (LARS1) over-expression in growth and migration of lung cancer cells detected by siRNA targeted knock-down analysis

(2008) Seung-Hun Shin et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

Unique Residues Crucial for Optimal Editing in Yeast Cytoplasmic Leucyl-tRNA Synthetase Are Revealed by Using a Novel Knockout Yeast Strain

(2008) Peng Yao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genome-Wide Polysome Profiling Reveals an Inflammation-Responsive Posttranscriptional Operon in Gamma Interferon-Activated Monocytes

(2008) K. Vyas et al.   MOLECULAR AND CELLULAR BIOLOGY

DAPK-ZIPK-L13a Axis Constitutes a Negative-Feedback Module Regulating Inflammatory Gene Expression

(2008) Rupak Mukhopadhyay et al.   MOLECULAR CELL

A stress-responsive RNA switch regulates VEGFA expression

(2008) Partho Sarothi Ray et al.   NATURE

Aminoacyl tRNA synthetases and their connections to disease

(2008) S. G. Park et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Development of tRNA synthetases and connection to genetic code and disease

(2008) Paul Schimmel   PROTEIN SCIENCE