VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

Human Mutation

Volumn 35, Issue 8, 2014, Pages 983-989

  Diodato, Daria ^a   Melchionda, Laura ^a   Haack, Tobias B ^b,c   Dallabona, Cristina ^d   Baruffini, Enrico ^d   Donnini, Claudia ^d   Granata, Tiziana ^a   Ragona, Francesca ^a   Balestri, Paolo ^e   Margollicci, Maria ^e   Lamantea, Eleonora ^a   Nasca, Alessia ^a   Powell, Christopher A ^f   Minczuk, Michal ^f   Strom, Tim M ^b,c   Meitinger, Thomas ^b,c   Prokisch, Holger ^b,c   Lamperti, Costanza ^a   Zeviani, Massimo ^a,f   Ghezzi, Daniele ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d UNIVERSITY OF PARMA   (Italy)

^e UNIVERSITY OF SIENA   (Italy)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Aminoacyl tRNA syntethases; Encephalomyopathy; Mitochondrial disease; OXPHOS defect; TARS2; VARS2

Indexed keywords

HLA ANTIGEN; ISOENZYME; MESSENGER RNA; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); THREONINE TRANSFER RNA; THREONINE TRANSFER RNA LIGASE; VALINE TRANSFER RNA; VALINE TRANSFER RNA LIGASE; VARS2 PROTEIN, HUMAN;

CELL LINE; CHILD; CYTOLOGY; ENZYMOLOGY; FIBROBLAST; GENETIC POLYMORPHISM; GENETICS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; MALE; METABOLISM; MITOCHONDRIAL ENCEPHALOMYOPATHY; MITOCHONDRION; MUTATION; PATHOLOGY; SACCHAROMYCES CEREVISIAE;

CELL LINE; CHILD; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FIBROBLASTS; HETEROZYGOTE; HLA ANTIGENS; HOMOZYGOTE; HUMANS; INFANT; ISOENZYMES; MALE; MITOCHONDRIA; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; POLYMORPHISM, GENETIC; RNA, MESSENGER; RNA, TRANSFER, THR; RNA, TRANSFER, VAL; SACCHAROMYCES CEREVISIAE; THREONINE-TRNA LIGASE; VALINE-TRNA LIGASE;

EID: 84904406653     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22590     Document Type: Article

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