Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia

American Journal of Human Genetics

Volumn 93, Issue 2, 2013, Pages 384-389

  Gaignard, Pauline ^a   Menezes, Minal ^b   Schiff, Manuel ^c,d   Bayot, Aurélien ^c,d   Rak, Malgorzata ^c,d   Ogier De Baulny, Hélène ^c   Su, Chen Hsien ^e   Gilleron, Mylene ^f,g   Lombes, Anne ^f,g   Abida, Heni ^e   Tzagoloff, Alexander ^e   Riley, Lisa ^h   Cooper, Sandra T ^b,h   Mina, Kym ^i,j   Sivadorai, Padma ⁱ   Davis, Mark R ⁱ   Allcock, Richard J N ^i,j   Kresoje, Nina ^j   Laing, Nigel G ^j,k   Thorburn, David R ^l,m   Slama, Abdelhamid ^a   Christodoulou, John ^b,h   Rustin, Pierre ^c,d   more..

^a BICÊTRE HOSPITAL   (France)

^b UNIVERSITY OF SYDNEY   (Australia)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e Och Spine at New York Presbyterian Hospitals   (United States)

^f INSERM   (France)

^g ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^h CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

ⁱ ROYAL PERTH HOSPITAL   (Australia)

^j UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^k PATHWEST LABORATORY MEDICINE   (Australia)

^l ROYAL CHILDREN'S HOSPITAL   (Australia)

^m UNIVERSITY OF MELBOURNE   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CITRATE SYNTHASE; CYTOCHROME C1; GLUCOSE; INSULIN; IRON SULFUR PROTEIN; LACTIC ACID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; UBIQUINOL CYTOCHROME C REDUCTASE;

AMINO ACID SUBSTITUTION; ARTICLE; CARBON SOURCE; CASE REPORT; COMPLEX III DEFICIENCY; CONFORMATIONAL TRANSITION; ENZYME ACTIVITY; FAILURE TO THRIVE; FEMALE; FIBROBLAST; FLUID RESUSCITATION; GENE FREQUENCY; GENE MUTATION; GENE OVEREXPRESSION; GENETIC CODE; GENETIC VARIABILITY; GLUCOSE BLOOD LEVEL; HUMAN; HYPERAMMONEMIA; HYPERGLYCEMIA; HYPERLACTATEMIA; INSULIN TREATMENT; KETOACIDOSIS; LACTATE BLOOD LEVEL; LACTIC ACIDEMIA; LIVER FAILURE; MALE; MITOCHONDRIAL RESPIRATION; PHENOTYPE; PREGNANCY DIABETES MELLITUS; PRIORITY JOURNAL; RECURRENT DISEASE; REHYDRATION; RESPIRATORY CHAIN; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; SKIN FIBROBLAST;

AMINO ACID SEQUENCE; CHILD, PRESCHOOL; CONSANGUINITY; CYTOCHROMES C; CYTOCHROMES C1; ELECTRON TRANSPORT; FEMALE; FIBROBLASTS; GENETIC COMPLEMENTATION TEST; HUMANS; HYPERGLYCEMIA; INSULIN; IRON-SULFUR PROTEINS; KETOSIS; MALE; MITOCHONDRIA; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN SUBUNITS; SACCHAROMYCES CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEINS; SKIN;

EID: 84881660387     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.06.015     Document Type: Article

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