SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

Science

Volumn 325, Issue 5944, 2009, Pages 1139-1142

  Hao, Huai Xiang ^a   Khalimonchuk, Oleh ^a   Schraders, Margit ^c,d   Dephoure, Noah ^e   Bayley, Jean Pierre ^f   Kunst, Henricus ^c   Devilee, Peter ^f   Cremers, Cor W R J ^c   Schiffman, Joshua D ^b   Bentz, Brandon G ^a   Gygi, Steven P ^e   Winge, Dennis R ^a   Kremer, Hannie ^c,d   Rutter, Jared ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF UTAH   (United States)

^c RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e HARVARD MEDICAL SCHOOL   (United States)

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

FLAVINE ADENINE NUCLEOTIDE; MITOCHONDRIAL PROTEIN; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE 5; TRICARBOXYLIC ACID; UNCLASSIFIED DRUG;

CARBOXYLIC ACID; CHROMOSOME; DISEASE INCIDENCE; ENZYME ACTIVITY; GENE EXPRESSION; HERITABILITY; MAMMAL; MITOCHONDRION; MUTATION; TUMOR; YEAST;

ADULT; AGED; ARTICLE; BREATHING; CHROMOSOME 11Q; CITRIC ACID CYCLE; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRON TRANSPORT; ENZYME ACTIVE SITE; FAMILY; FLAVINATION; GENE EXPRESSION; GENE MUTATION; GENETIC SUSCEPTIBILITY; GERM LINE; HEREDITY; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; PARAGANGLIOMA; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN INTERACTION; PROTEIN MODIFICATION; PROTEOMICS; RESPIRATORY CHAIN; YEAST;

AMINO ACID SEQUENCE; CELL LINE; CELL LINE, TUMOR; FEMALE; FLAVIN-ADENINE DINUCLEOTIDE; FLAVOPROTEINS; GERM-LINE MUTATION; HAPLOTYPES; HUMANS; INHERITANCE PATTERNS; MALE; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; OXYGEN CONSUMPTION; PARAGANGLIOMA; PEDIGREE; PROTEIN SUBUNITS; PROTEOMICS; SACCHAROMYCES CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEINS; SUCCINATE DEHYDROGENASE;

MAMMALIA;

EID: 69549088424     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1175689     Document Type: Article

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30. We thank members of the Rutter laboratory for helpful discussions; the J. Shaw and J. Kaplan laboratories for antibodies and technical assistance; J.-M. Heo, T. Smith, E. Taylor, E. van Wijk, S. van der Velde-Visser, and C. Beumer for technical assistance; B. Lemire for the antibodies to Sdh1 and Sdh2; C. Outten for the antiserum to Tim10; and J. Lindsley for critical reading of the manuscript. This work was funded by NIH grants DK071962 and GM087346 (to J.R.), by the Dutch Cancer Society (grant UL 2002-2723), and by the European Union 6th Framework Program, Project No.518200 (to P.D.). J.R. and H.H. plan to file a patent related to genetic testing of the hSDH5 gene.