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

Gaignard, Pauline; Menezes, Minal; Schiff, Manuel; Bayot, Aurélien; Rak, Malgorzata; Ogier de Baulny, Hélène; Su, Chen-Hsien; Gilleron, Mylene; Lombes, Anne; Abida, Heni; Tzagoloff, Alexander; Riley, Lisa; Cooper, Sandra T; Mina, Kym; Sivadorai, Padma; Davis, Mark R; Allcock, Richard J N; Kresoje, Nina; Laing, Nigel G; Thorburn, David R; Slama, Abdelhamid; Christodoulou, John; Rustin, Pierre

Gaignard, Pauline; Menezes, Minal; Schiff, Manuel; Bayot, Aurélien; Rak, Malgorzata; Ogier de Baulny, Hélène; Su, Chen-Hsien; Gilleron, Mylene; Lombes, Anne; Abida, Heni; Tzagoloff, Alexander; Riley, Lisa; Cooper, Sandra T; Mina, Kym; Sivadorai, Padma; Davis, Mark R; Allcock, Richard J N; Kresoje, Nina; Laing, Nigel G; Thorburn, David R; Slama, Abdelhamid; Christodoulou, John; Rustin, Pierre.

Affiliation

Gaignard P; Laboratoire de Biochimie, Hôpital de Bicêtre, Assistance Publique - Hôpitaux de Paris, 78 Rue du Général Leclerc, 94275 Le Kremlin Bicêtre Cedex, France.

Am J Hum Genet ; 93(2): 384-9, 2013 Aug 08.

Article in En | MEDLINE | ID: mdl-23910460

Subject(s)

Cytochromes c1/genetics; Cytochromes c/genetics; Hyperglycemia/genetics; Ketosis/genetics; Mutation; Protein Subunits/genetics; Saccharomyces cerevisiae Proteins/genetics; Amino Acid Sequence; Child, Preschool; Consanguinity; Cytochromes c/metabolism; Cytochromes c1/metabolism; Electron Transport; Female; Fibroblasts/enzymology; Fibroblasts/pathology; Genetic Complementation Test; Humans; Hyperglycemia/drug therapy; Hyperglycemia/enzymology; Hyperglycemia/physiopathology; Insulin/pharmacology; Iron-Sulfur Proteins/genetics; Iron-Sulfur Proteins/metabolism; Ketosis/drug therapy; Ketosis/enzymology; Ketosis/physiopathology; Male; Mitochondria/enzymology; Mitochondria/genetics; Models, Molecular; Molecular Sequence Data; Protein Subunits/metabolism; Saccharomyces cerevisiae/enzymology; Saccharomyces cerevisiae/genetics; Saccharomyces cerevisiae Proteins/metabolism; Skin/enzymology; Skin/pathology

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cytochromes c1 / Protein Subunits / Saccharomyces cerevisiae Proteins / Cytochromes c / Hyperglycemia / Ketosis / Mutation Language: En Journal: Am J Hum Genet Year: 2013 Type: Article Affiliation country: France

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