Article
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.
Proceedings of the National Academy of Sciences of the United States of America - 4 Jan 2011
Janeway Katherine A, Kim Su Young, Lodish Maya, Nosé Vânia, Rustin Pierre, Gaal José, Dahia Patricia L M, Liegl Bernadette, Ball Evan R, Raygada Margarita, Lai Angela H, Kelly Lorna, Hornick Jason L, O'Sullivan Maureen, de Krijger Ronald R, Dinjens Winand N M, Demetri George D, Antonescu Cristina R, Fletcher Jonathan A, Helman Lee, Stratakis Constantine A
Abstract excerpt
Carney-Stratakis syndrome, an inherited condition predisposing affected individuals to gastrointestinal stromal tumor (GIST) and paraganglioma, is caused by germline mutations in succinate dehydrogenase (SDH) subunits B, C, or D, leading to dysfunction of complex II of the electron transport chain. We evaluated the role of defective cellular respiration in sporadic GIST lacking mutations in KIT or PDGFRA (WT)....
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