Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1842, Issue 1, 2014, Pages 56-64

  Almalki, Abdulraheem ^a,e   Alston, Charlotte L ^a   Parker, Alasdair ^b   Simonic, Ingrid ^c   Mehta, Sarju G ^b   He, Langping ^a   Reza, Mojgan ^d   Oliveira, Jorge M A ^a,f   Lightowlers, Robert N ^a   McFarland, Robert ^a   Taylor, Robert W ^a   Chrzanowska Lightowlers, Zofia M A ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e TAIF UNIVERSITY   (Saudi Arabia)

^f UNIVERSITY OF PORTO   (Portugal)

Author keywords

Aminoacyl tRNA synthetase; Aminoacylation; Mitochondria; Mitochondrial disease; Mitochondrial translation; Protein synthesis

Indexed keywords

AMINO ACID TRANSFER RNA LIGASE; CYTOCHROME C OXIDASE; MITOCHONDRIAL PROTEIN; PHENYLALANINE TRANSFER RNA LIGASE; PREDNISOLONE;

AMINO ACID SUBSTITUTION; AMINOACYLATION; ARTICLE; CASE REPORT; CELL TYPE; CHROMOSOME 6; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; ENZYME ACTIVITY; EPILEPSY; EXON; GENE DELETION; GENE DOSAGE; GENETIC ANALYSIS; GENETIC SCREENING; HISTOCHEMISTRY; HUMAN; INFANT; INFANT DISEASE; INFANTILE ONSET EPILEPSY; KARYOTYPING; MALE; MISSENSE MUTATION; MITOCHONDRIAL GENOME; MITOCHONDRION; MUSCLE BIOPSY; MYOBLAST; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN SYNTHESIS; RECESSIVE INHERITANCE; RESPIRATORY CHAIN; STEADY STATE; STEROID THERAPY; WEST SYNDROME; WESTERN BLOTTING; WHITE MATTER LESION;

AARS; AMINOACYL-TRNA SYNTHETASE; AMINOACYLATION; LBSL; LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; MAGNETIC RESONANCE IMAGING; MITOCHONDRIA; MITOCHONDRIAL; MITOCHONDRIAL DISEASE; MITOCHONDRIAL DNA; MITOCHONDRIAL TRANSLATION; MLASA; MRI; MT-; MTDNA; MYOPATHY, LACTIC ACIDOSIS AND SIDEROBLASTIC ANAEMIA; OXIDATIVE PHOSPHORYLATION; OXPHOS; PCH6; PONTOCEREBELLAR HYPOPLASIA TYPE 6; PROTEIN SYNTHESIS;

AMINO ACID SEQUENCE; AMINO ACYL-TRNA SYNTHETASES; AMINOACYLATION; CHILD, PRESCHOOL; CYCLOOXYGENASE 1; CYCLOOXYGENASE 2; CYTOCHROME-C OXIDASE DEFICIENCY; ELECTRON TRANSPORT COMPLEX IV; EPILEPSY; FIBROBLASTS; GENE EXPRESSION; HUMANS; MALE; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; MYOBLASTS; RNA, MESSENGER; RNA, TRANSFER;

EID: 84887641296     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2013.10.008     Document Type: Article

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