Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways

Biochemical Journal

Volumn 450, Issue 2, 2013, Pages 345-350

  Van Berge, Laura ^a   Kevenaar, Josta ^a   Polder, Emiel ^a   Gaudry, Agnes ^b   Florentz, Catherine ^b   Sissler, Marie ^b   Van Der Knaap, Marjo S ^a   Scheper, Gert C ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITÉ DE STRASBOURG   (France)

Author keywords

Aminoacyl tRNA synthetase; Aspartylation; Leukoencephalopathy; Missense mutation; Mitochondrion

Indexed keywords

AMINO ACID TRANSFER RNA LIGASE; MITOCHONDRIAL ASPARTYL TRNA SYNTHETASE; MITOCHONDRIAL ENZYME; UNCLASSIFIED DRUG;

AMINOACYLATION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CATALYSIS; CONTROLLED STUDY; DIMERIZATION; EMBRYO; ENZYME ACTIVITY; ENZYME LOCALIZATION; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; LEUKOENCEPHALOPATHY; LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; MISSENSE MUTATION; PATHOGENESIS; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; WESTERN BLOTTING; WHITE MATTER LESION;

ASPARTATE-TRNA LIGASE; BRAIN STEM; HEK293 CELLS; HUMANS; IMMUNOHISTOCHEMISTRY; LEUKOENCEPHALOPATHIES; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION, MISSENSE; SPINAL CORD; TRANSFECTION;

EID: 84874067493     PISSN: 02646021     EISSN: 14708728     Source Type: Journal    
DOI: 10.1042/BJ20121564     Document Type: Article

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