Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

Frontiers in Genetics

Volumn 5, Issue FEB, 2015, Pages

  Euro, Liliya ^a   Konovalova, Svetlana ^a   Asin Cayuela, Jorge ^b   Tulinius, Már ^c   Griffin, Helen ^d   Horvath, Rita ^d   Taylor, Robert W ^d   Chinnery, Patrick F ^d   Schara, Ulrike ^e   Thorburn, David R ^f   Suomalainen, Anu ^a,g   Chihade, Joseph ^h   Tyynismaa, Henna ^a,i  

^a UNIVERSITY OF HELSINKI   (Finland)

^b SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^c QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e UNIVERSITY OF DUISBURG ESSEN   (Germany)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^h CARLETON COLLEGE   (United States)

ⁱ UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Alanyl tRNA synthetase; Aminoacyl tRNA synthetases; Mitochondrial disease; Structural modeling; Tissue specificity

Indexed keywords

ALANINE TRANSFER RNA LIGASE; MITOCHONDRIAL PROTEIN;

AMINO ACID SUBSTITUTION; AMINOACYLATION; APGAR SCORE; ARTICLE; CLINICAL ARTICLE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSPNEA; FEMALE; GENE FREQUENCY; HAPLOTYPE; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; LACTIC ACIDOSIS; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MITOCHONDRIAL MYOPATHY; MITOCHONDRION; MUSCLE BIOPSY; NEWBORN; PHENOTYPE; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; TISSUE SPECIFICITY;

EID: 84923632993     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2015.00021     Document Type: Article

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