Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor

Human Molecular Genetics

Volumn 18, Issue 10, 2009, Pages 1860-1868

  Goffrini, Paola ^a   Ercolino, Tonino ^b   Panizza, Elena ^a   Giachè, Valentino ^b   Cavone, Leonardo ^c   Chiarugi, Alberto ^c   Dima, Veronica ^a   Ferrero, Iliana ^a   Mannelli, Massimo ^b  

^a UNIVERSITY OF PARMA   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; MENADIONE; MITOCHONDRIAL DNA; REACTIVE OXYGEN METABOLITE; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE B; SUCCINATE DEHYDROGENASE C; SUCCINATE DEHYDROGENASE D; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CANCER GROWTH; CARCINOGENESIS; CASE REPORT; COLONY FORMATION; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME REPRESSION; FEMALE; GENE FREQUENCY; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC POLYMORPHISM; GLOMUS TUMOR; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MOLECULAR MECHANICS; NONHUMAN; OXIDATIVE STRESS; PARAGANGLIOMA; PHENOTYPE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE; SENSITIVITY ANALYSIS;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GERM-LINE MUTATION; GLOMUS TUMOR; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OXIDATIVE STRESS; SACCHAROMYCES CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEINS; SEQUENCE ALIGNMENT; SUCCINATE DEHYDROGENASE;

GLOMUS; MAMMALIA; SACCHAROMYCES CEREVISIAE;

EID: 65449185779     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp102     Document Type: Article

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