4.6 Review

Transfer RNA and human disease

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Critical Care Medicine

EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis

D. Hunter Best et al.

Article Biochemistry & Molecular Biology

Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in CharcotMarieTooth type 2D mice

James N. Sleigh et al.

HUMAN MOLECULAR GENETICS (2014)

Article Multidisciplinary Sciences

Transmitochondrial mice as models for primary prevention of diseases caused by mutation in the tRNALys gene

Akinori Shimizu et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)

Article Multidisciplinary Sciences

Visualization of Dynamics of Single Endogenous mRNA Labeled in Live Mouse

Hye Yoon Park et al.

SCIENCE (2014)

Review Biochemistry & Molecular Biology

Role of tRNA modifications in human diseases

Adrian Gabriel Torres et al.

TRENDS IN MOLECULAR MEDICINE (2014)

Article Cell Biology

Hypothalamic eIF2α Signaling Regulates Food Intake

Anne-Catherine Maurin et al.

CELL REPORTS (2014)

Article Genetics & Heredity

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

Ryan J. Taft et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Genetics & Heredity

Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89

Regie Lyn P. Santos-Cortez et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Review Neurosciences

RNA Protein Interaction in Neurons

Robert B. Darnell

ANNUAL REVIEW OF NEUROSCIENCE, VOL 36 (2013)

Review Biochemistry & Molecular Biology

Regulation of Cell Death by Transfer RNA

Ya-Ming Hou et al.

ANTIOXIDANTS & REDOX SIGNALING (2013)

Article Biochemistry & Molecular Biology

Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways

Laura van Berge et al.

BIOCHEMICAL JOURNAL (2013)

Article Biochemistry & Molecular Biology

GCN2, an old dog with new tricks

Beata Grallert et al.

BIOCHEMICAL SOCIETY TRANSACTIONS (2013)

Review Biochemistry & Molecular Biology

Altered Ribostasis: RNA-Protein Granules in Degenerative Disorders

Mani Ramaswami et al.

Article Cell Biology

To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations

Rachel C. Wallen et al.

CURRENT OPINION IN GENETICS & DEVELOPMENT (2013)

Article Cell Biology

Regulation and dysregulation of 3′UTR-mediated translational control

Jie Jia et al.

CURRENT OPINION IN GENETICS & DEVELOPMENT (2013)

Review Medicine, Research & Experimental

Aminoacyl-tRNA synthetases in medicine and disease

Peng Yao et al.

EMBO MOLECULAR MEDICINE (2013)

Article Clinical Neurology

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

Michael Gonzalez et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2013)

Article Biochemistry & Molecular Biology

tRNA Binding, Structure, and Localization of the Human Interferon-Induced Protein IFIT5

George E. Katibah et al.

MOLECULAR CELL (2013)

Article Biochemistry & Molecular Biology

Structural Switch of Lysyl-tRNA Synthetase between Translation and Transcription

Yifat Ofir-Birin et al.

MOLECULAR CELL (2013)

Review Endocrinology & Metabolism

Mitochondrial aminoacyl-tRNA synthetases in human disease

Svetlana Konovalova et al.

MOLECULAR GENETICS AND METABOLISM (2013)

Article Multidisciplinary Sciences

CLP1 links tRNA metabolism to progressive motor-neuron loss

Toshikatsu Hanada et al.

NATURE (2013)

Article Neurosciences

Parthanatos mediates AIMP2-activated age-dependent dopaminergic neuronal loss

Yunjong Lee et al.

NATURE NEUROSCIENCE (2013)

Review Clinical Neurology

The clinical maze of mitochondrial neurology

Salvatore DiMauro et al.

NATURE REVIEWS NEUROLOGY (2013)

Review Clinical Neurology

Mechanisms underlying synaptic vulnerability and degeneration in neurodegenerative disease

T. H. Gillingwater et al.

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2013)

Review Biochemistry & Molecular Biology

Non-canonical roles of lysyl-tRNA synthetase in health and disease

Alex Motzik et al.

TRENDS IN MOLECULAR MEDICINE (2013)

Article Cell Biology

Mitochondrial Trafficking in Neurons

Thomas L. Schwarz

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2013)

Review Neurosciences

Reciprocal regulation of A-to-I RNA editing and the vertebrate nervous system

Andrew C. Penn et al.

FRONTIERS IN NEUROSCIENCE (2013)

Article Biochemistry & Molecular Biology

Structural analyses clarify the complex control of mistranslation by tRNA synthetases

Min Guo et al.

CURRENT OPINION IN STRUCTURAL BIOLOGY (2012)

Article Immunology

Identification of modifications in microbial, native tRNA that suppress immunostimulatory activity

Stefanie Gehrig et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2012)

Review Neurosciences

Mitochondrial transport in neurons: impact on synaptic homeostasis and neurodegeneration

Zu-Hang Sheng et al.

NATURE REVIEWS NEUROSCIENCE (2012)

Article Multidisciplinary Sciences

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

Erik G. Puffenberger et al.

PLOS ONE (2012)

Article Multidisciplinary Sciences

Pyruvate kinase M2 promotes de novo serine synthesis to sustain mTORC1 activity and cell proliferation

Jiangbin Ye et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)

Article Biochemistry & Molecular Biology

Internally Deleted Human tRNA Synthetase Suggests Evolutionary Pressure for Repurposing

Zhiwen Xu et al.

STRUCTURE (2012)

Review Neurosciences

Mitochondria as a central sensor for axonal degenerative stimuli

Felipe A. Court et al.

TRENDS IN NEUROSCIENCES (2012)

Article Nutrition & Dietetics

Eukaryotic Initiation Factor 2 Phosphorylation and Translational Control in Metabolism

Thomas D. Baird et al.

ADVANCES IN NUTRITION (2012)

Review Neurosciences

Emerging roles of alternative pre-mRNA splicing regulation in neuronal development and function

Adam D. Norris et al.

FRONTIERS IN NEUROSCIENCE (2012)

Review Genetics & Heredity

Human Mitochondrial tRNAs: Biogenesis, Function, Structural Aspects, and Diseases

Tsutomu Suzuki et al.

ANNUAL REVIEW OF GENETICS, VOL 45 (2011)

Review Neurosciences

Too Many Cooks? Intrinsic and Synaptic Homeostatic Mechanisms in Cortical Circuit Refinement

Gina Turrigiano

ANNUAL REVIEW OF NEUROSCIENCE, VOL 34 (2011)

Article Biochemistry & Molecular Biology

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

Clifford A. Froelich et al.

BIOCHEMISTRY (2011)

Article Biochemical Research Methods

ModeRNA server: an online tool for modeling RNA 3D structures

Magdalena Rother et al.

BIOINFORMATICS (2011)

Article Biochemistry & Molecular Biology

Angiogenin-Induced tRNA Fragments Inhibit Translation Initiation

Pavel Ivanov et al.

MOLECULAR CELL (2011)

Article Multidisciplinary Sciences

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

Sarah B. Pierce et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)

Review Cell Biology

Transfer RNA travels from the cytoplasm to organelles

Mary Anne T. Rubio et al.

WILEY INTERDISCIPLINARY REVIEWS-RNA (2011)

Article Oncology

Aminoacyl-tRNA synthetases and tumorigenesis: more than housekeeping

Sunghoon Kim et al.

NATURE REVIEWS CANCER (2011)

Article Genetics & Heredity

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

Heather M. McLaughlin et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Review Biochemistry & Molecular Biology

Pattern Recognition Receptors and Inflammation

Osamu Takeuchi et al.

Editorial Material Biochemistry & Molecular Biology

How do tumours adapt to nutrient stress?

Ronald C. Wek et al.

EMBO JOURNAL (2010)

Review Biochemistry & Molecular Biology

Cellular dynamics of tRNAs and their genes

Anita K. Hopper et al.

FEBS LETTERS (2010)

Review Cell Biology

tRNA biology charges to the front

Eric M. Phizicky et al.

GENES & DEVELOPMENT (2010)

Review Immunology

Intracellular Toll-like Receptors

Amanda L. Blasius et al.

IMMUNITY (2010)

Review Genetics & Heredity

Genetics and pathological mechanisms of Usher syndrome

Denise Yan et al.

JOURNAL OF HUMAN GENETICS (2010)

Review Cell Biology

Apoptotic regulation and tRNA

Yide Mei et al.

PROTEIN & CELL (2010)

Article Biochemistry & Molecular Biology

Stress induces tRNA cleavage by angiogenin in mammalian cells

Hanjiang Fu et al.

FEBS LETTERS (2009)

Article Cell Biology

Angiogenin cleaves tRNA and promotes stress-induced translational repression

Satoshi Yamasaki et al.

JOURNAL OF CELL BIOLOGY (2009)

Article Multidisciplinary Sciences

Mitochondrial gene replacement in primate offspring and embryonic stem cells

Masahito Tachibana et al.

NATURE (2009)

Article Biochemistry & Molecular Biology

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

Patricia P. Chan et al.

NUCLEIC ACIDS RESEARCH (2009)

Article Developmental Biology

Mitochondrial biogenesis in the axons of vertebrate peripheral neurons

Mandana Amiri et al.

DEVELOPMENTAL NEUROBIOLOGY (2008)

Article Genetics & Heredity

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Birgit S. Budde et al.

NATURE GENETICS (2008)

Article Biochemistry & Molecular Biology

Human RNA 5′-kinase (hClp1) can function as a tRNA splicing enzyme in vivo

Alejandro Ramirez et al.

Article Clinical Neurology

Mitochondrial dynamics and peripheral neuropathy

Robert H. Baloh

NEUROSCIENTIST (2008)

Article Biotechnology & Applied Microbiology

2'-O-methyl-modified RNAs act as TLR7 antagonists

Marjorie Robbins et al.

MOLECULAR THERAPY (2007)

Review Developmental Biology

RNA transport and localized protein synthesis in neurological disorders and neural repair

Wenlan Wang et al.

DEVELOPMENTAL NEUROBIOLOGY (2007)

Article Multidisciplinary Sciences

Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect

Leslie A. Nangle et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Cell Biology

Rapid and reversible nuclear accumulation of cytoplasmic tRNA in response to nutrient availability

Michael L. Whitney et al.

MOLECULAR BIOLOGY OF THE CELL (2007)

Article Multidisciplinary Sciences

Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase

Wei Xie et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Biochemistry & Molecular Biology

An enhanced MITOMAP with a global mtDNA mutational phylogeny

Eduardo Ruiz-Pesini et al.

NUCLEIC ACIDS RESEARCH (2007)

Article Genetics & Heredity

Tissue-specific differences in human transfer RNA expression

Kimberly A. Dittmar et al.

PLOS GENETICS (2006)

Article Multidisciplinary Sciences

Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration

Jeong Woong Lee et al.

NATURE (2006)

Article Biochemistry & Molecular Biology

Coping with stress: eIF2 kinases and translational control

RC Wek et al.

BIOCHEMICAL SOCIETY TRANSACTIONS (2006)

Article Multidisciplinary Sciences

Retrograde movement of tRNAs from the cytoplasm to the nucleus in Saccharomyces cerevisiae

HH Shaheen et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Article Biochemistry & Molecular Biology

IMPACT, a protein preferentially expressed in the mouse brain, binds GCN1 and inhibits GCN2 activation

CM Pereira et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2005)

Article Biochemistry & Molecular Biology

The tRNAscan-SE, snoscan and snoGPS web servers for the detection of tRNAs and snoRNAs

P Schattner et al.

NUCLEIC ACIDS RESEARCH (2005)

Article Multidisciplinary Sciences

Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease

Y Kirino et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Article Biochemistry & Molecular Biology

Compilation of tRNA sequences and sequences of tRNA genes

M Sprinzl et al.

NUCLEIC ACIDS RESEARCH (2005)

Article Cardiac & Cardiovascular Systems

Pulmonary hypertension in transgenic mice expressing a dominant-negative BMPRII gene in smooth muscle

J West et al.

CIRCULATION RESEARCH (2004)

Review Cell Biology

Aminoacyl-tRNAs:: setting the limits of the genetic code

M Ibba et al.

GENES & DEVELOPMENT (2004)

Article Clinical Neurology

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype

MAB Melone et al.

ARCHIVES OF NEUROLOGY (2004)

Article Multidisciplinary Sciences

Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease

Y Kirino et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)

Review Biochemistry & Molecular Biology

Human mitochondrial tRNAs in health and disease

C Florentz et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2003)

Article Cardiac & Cardiovascular Systems

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy

RW Taylor et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2003)

Article Genetics & Heredity

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V

A Antonellis et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)

Article Biochemistry & Molecular Biology

An integrated stress response regulates amino acid metabolism and resistance to oxidative stress

HP Harding et al.

MOLECULAR CELL (2003)

Review Cell Biology

tRNA transfers to the limelight

AK Hopper et al.

GENES & DEVELOPMENT (2003)

Article Genetics & Heredity

A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy

WS Shin et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2000)

Article Biochemistry & Molecular Biology

Perk is essential for translational regulation and cell survival during the unfolded protein response

HP Harding et al.

MOLECULAR CELL (2000)