Mitochondrial citrate synthase crystals: Novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations

Molecular Genetics and Metabolism

Volumn 108, Issue 1, 2013, Pages 40-50

  Siriwardena, Komudi ^a,d   MacKay, Nevena ^b   Levandovskiy, Valeriy ^a   Blaser, Susan ^c   Raiman, Julian ^a,d   Kantor, Paul F ^a   Ackerley, Cameron ^b   Robinson, Brian H ^a,d   Schulze, Andreas ^a,d   Cameron, Jessie M ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

Acylglycerol kinase; Exome sequencing; Free radicals; Mitochondria; Sengers syndrome

Indexed keywords

ACYLGLYCEROL KINASE; CITRATE SYNTHASE; DIACYLGLYCEROL; GLYCEROL KINASE; LYSOPHOSPHATIDIC ACID; MITOCHONDRIAL DNA; PHOSPHATIDIC ACID; UNCLASSIFIED DRUG;

ARTICLE; CARDIOMYOPATHY; CATARACT; CEREBROVASCULAR ACCIDENT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DETOXIFICATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LACTIC ACIDOSIS; LIPOGENESIS; MALE; MITOCHONDRION; OXIDATIVE STRESS; PRESCHOOL CHILD; PRIORITY JOURNAL; SENGERS SYNDROME; SIGNAL TRANSDUCTION; SKIN FIBROBLAST;

BASE SEQUENCE; CARDIOMYOPATHIES; CATARACT; CHILD, PRESCHOOL; CITRATE (SI)-SYNTHASE; CRYSTALLIZATION; DNA PRIMERS; FEMALE; HUMANS; INFANT; MALE; MITOCHONDRIA; MUTATION; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 84871714174     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.11.282     Document Type: Article

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