A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome

Mitochondrion

Volumn 25, Issue , 2015, Pages 113-119

  Duff, Rachael M ^a   Shearwood, Anne Marie J ^a   Ermer, Judith ^a   Rosseti, Giulia ^a   Gooding, Rebecca ^b   Richman, Tara R ^a   Balasubramaniam, Shanti ^c   Thorburn, David R ^d,e   Rackham, Oliver ^a   Lamont, Phillipa J ^f   Filipovska, Aleksandra ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b PATHWEST LABORATORY MEDICINE   (Australia)

^c PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f ROYAL PERTH HOSPITAL   (Australia)

Author keywords

Leigh syndrome; Mitochondrial disease; MT TW; Multi organ mitochondrial disease; OXPHOS; TRNA; TRNA tryptophan

Indexed keywords

LACTIC ACID; TRYPTOPHAN TRANSFER RNA;

ARTICLE; BRAIN EDEMA; CASE REPORT; CHILD; CHOLESTATIC HEPATITIS; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; FAILURE TO THRIVE; FEMALE; FIBROBLAST; GENE; GENE MUTATION; GENETIC STABILITY; GENETIC TRANSCRIPTION; HEPATOSPLENOMEGALY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERTENSION; HYPERTROPHIC CARDIOMYOPATHY; IMMUNOBLOTTING; INTRAUTERINE GROWTH RETARDATION; LACTATE BLOOD LEVEL; LEIGH DISEASE; LIVER FUNCTION TEST; MALE; MT TW GENE; NEUROPSYCHOLOGICAL TEST; NEWBORN; NEXT GENERATION SEQUENCING; OXYGEN CONSUMPTION; PRIORITY JOURNAL; PROTEIN SYNTHESIS; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA METABOLISM; RNA PROCESSING; SEIZURE; CELL CULTURE; FAMILY HEALTH; GENETICS; INFANT; METABOLISM; MITOCHONDRION; PATHOLOGY; PHYSIOLOGY; POINT MUTATION; PRESCHOOL CHILD; SIBLING;

CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; LEIGH DISEASE; MALE; MITOCHONDRIA; POINT MUTATION; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA, TRANSFER, TRP; SIBLINGS;

EID: 84946712603     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2015.10.008     Document Type: Article

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