A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: Novel avenues for biochemical and therapeutic studies

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1812, Issue 11, 2011, Pages 1380-1384

  Kranendijk, M ^a   Salomons, G S ^a   Gibson, K M ^b   Van Schaftingen, E ^c   Jakobs, C ^a   Struys, E A ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MICHIGAN TECHNOLOGICAL UNIVERSITY   (United States)

^c DE DUVE INSTITUTE   (Belgium)

Author keywords

2 hydroxyglutarate; D 2 hydroxyglutaric aciduria; Enzyme assay; IDH2 R140Q gain of function; Isocitrate dehydrogenase 2; Lymphoblast model

Indexed keywords

2 OXOGLUTARIC ACID; ISOCITRATE DEHYDROGENASE ISOENZYME; ISOCITRIC ACID; OXALOACETIC ACID; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

ACIDURIA; ARTICLE; BIOCHEMISTRY; BIOLOGICAL MODEL; CELL ASSAY; CELL CULTURE; CELL LINE; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; DEXTRO 2 HYDROXYGLUTARIC ACIDURIA TYPE II; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME KINETICS; GAIN OF FUNCTION MUTATION; HUMAN; HUMAN CELL; ISOTOPE LABELING; LYMPHOBLAST; PH; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY;

BRAIN DISEASES, METABOLIC, INBORN; CASE-CONTROL STUDIES; CELLS, CULTURED; CHROMATOGRAPHY, LIQUID; ENZYME INHIBITORS; GLUTARATES; HUMANS; ISOCITRATE DEHYDROGENASE; KETOGLUTARIC ACIDS; LYMPHOCYTES; MUTATION; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY;

EID: 80052866626     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2011.08.006     Document Type: Article

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