Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation

Mitochondrion

Volumn 10, Issue 5, 2010, Pages 497-509

  Kotarsky, Heike ^a   Karikoski, Riitta ^b   Mörgelin, Matthias ^a   Marjavaara, Sanna ^c   Bergman, Petra ^a   Zhang, De Liang ^d   Smet, Joél ^e   van Coster, Rudy ^e   Fellman, Vineta ^a,c  

^a LUND UNIVERSITY   (Sweden)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Ceruloplasmin; Core I; Fellman syndrome; Hemochromatosis; Mitochondria; Rieske FeS protein

Indexed keywords

BCS1L PROTEIN; CHAPERONE; PROTEIN; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG;

AMINOACIDURIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHOLESTASIS; CLINICAL ARTICLE; COMPLEX III DEFICIENCY; CONTROLLED STUDY; ENZYME ACTIVITY; FIBROBLAST; GRACILE SYNDROME; HEART; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; INTRAUTERINE GROWTH RETARDATION; IRON OVERLOAD; KIDNEY PARENCHYMA; LACTIC ACIDOSIS; LIVER CIRRHOSIS; LIVER DYSFUNCTION; LIVER LEVEL; MISSENSE MUTATION; MITOCHONDRIAL MEMBRANE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; TISSUE LEVEL;

CERULOPLASMIN; CONGENITAL ABNORMALITIES; ELECTRON TRANSPORT COMPLEX III; FEMALE; FERRITINS; HISTOCYTOCHEMISTRY; HUMANS; INFANT; INFANT, NEWBORN; IRON; KIDNEY; LIVER; LIVER DISEASES; MEMBRANE PROTEINS; MYOCARDIUM; PLACENTA; PREGNANCY; UP-REGULATION;

EID: 77955425763     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2010.05.009     Document Type: Article

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