Deficiencies in tRNA synthetase editing activity cause cardioproteinopathy

Proceedings of the National Academy of Sciences of the United States of America

Volumn 111, Issue 49, 2014, Pages 17570-17575

  Liu, Ye ^a   Satz, Jakob S ^a   Vo, My Nuong ^b   Nangle, Leslie A ^b,d   Schimmel, Paul ^b,c   Ackerman, Susan L ^b  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b SCRIPPS RESEARCH INSTITUTE   (United States)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

^d ATyr Pharma Inc   (United States)

Author keywords

Cardiomyopathy; Mistranslation; Protein misfolding; Protein quality control; Translational fidelity

Indexed keywords

ALANINE TRANSFER RNA LIGASE; DESMIN; ELONGATION FACTOR 1ALPHA; MICROTUBULE ASSOCIATED PROTEIN 1; PROTEIN P62; UBIQUITINATED PROTEIN; BACTERIAL PROTEIN; PARAFFIN; PROTEIN BINDING;

AGGRESOME; ALLELE; ALOPECIA; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; AUTOPHAGY; CARBOXY TERMINAL SEQUENCE; CARDIOMYOPATHY; CARDIOPROTEINOPATHY; CELL DEATH; CELL INCLUSION; CELL VACUOLE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ECHOCARDIOGRAPHY; EDITING DEFICIENCY; EMBRYO; EMBRYO DEATH; ENZYME ACTIVITY; GENE DOSAGE; GENE OVEREXPRESSION; GENOTYPE; HEART EJECTION FRACTION; HEART MUSCLE; HEART MUSCLE CELL; HEART MUSCLE FIBROSIS; HEART VENTRICLE WALL; HOMOLOGOUS RECOMBINATION; IMMUNOFLUORESCENCE; INTRON; MITOCHONDRIAL DEFECT; MOUSE; NERVE CELL DEGENERATION; NONHUMAN; PHENOTYPE; PROTEIN AGGREGATION; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN MISFOLDING; PROTEIN SYNTHESIS; PURKINJE CELL; SARCOPLASMIC RETICULUM; TELEMETRY; TRANSMISSION ELECTRON MICROSCOPY; WILD TYPE; ANIMAL; C57BL MOUSE; CHEMICAL STRUCTURE; CHEMISTRY; DEFICIENCY; FLUORESCENCE MICROSCOPY; GENETICS; HEART DISEASE; HOMEOSTASIS; HUMAN; HYDROLYSIS; MUTATION; PROTEIN TERTIARY STRUCTURE; PROTEOSTASIS DEFICIENCY; RNA EDITING; ULTRASTRUCTURE;

ALANINE-TRNA LIGASE; ALLELES; ANIMALS; BACTERIAL PROTEINS; ECHOCARDIOGRAPHY; HEART DISEASES; HOMEOSTASIS; HUMANS; HYDROLYSIS; MICE; MICE, INBRED C57BL; MICROSCOPY, FLUORESCENCE; MODELS, MOLECULAR; MUTATION; MYOCYTES, CARDIAC; PARAFFIN; PROTEIN BINDING; PROTEIN FOLDING; PROTEIN STRUCTURE, TERTIARY; PROTEOSTASIS DEFICIENCIES; RNA EDITING;

EID: 84916631332     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1420196111     Document Type: Article

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