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E Kim, E M Rath, V H M Tsang, A P Duff, B G Robinson, W B Church, D E Benn, T Dwight, and R J Clifton-Bligh

context of inherited neoplasia syndromes in more than 30% of cases and are linked to germline mutations in succinate dehydrogenase subunit A ( SDHA ), SDHB , SDHC , SDHD , SDHAF2 , VHL , RET , NF1 , TMEM127 , MAX , KIF1B , EPAS1 ( Lorenzo et

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Maya B Lodish, Karen T Adams, Thanh T Huynh, Tamara Prodanov, Alex Ling, Clara Chen, Suzanne Shusterman, Camilo Jimenez, Maria Merino, Marybeth Hughes, Kendall W Cradic, Dragana Milosevic, Ravinder J Singh, Constantine A Stratakis, and Karel Pacak

been reported in the literature, but their association with specific mutations and/or genetic syndromes has not been described ( Subramanian & Maker 2006 ). Germline mutations in the genes encoding subunits B, C, and D of succinate dehydrogenase (SDH

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Hans K Ghayee, Bas Havekes, Eleonora P M Corssmit, Graeme Eisenhofer, Stephen R Hammes, Zahid Ahmad, Alexander Tessnow, Ivica Lazúrová, Karen T Adams, Antonio T Fojo, Karel Pacak, and Richard J Auchus

2, neurofibromatosis type 1, and von Hippel–Lindau syndrome are familial syndromes that predominantly predispose to adrenal pheochromocytomas. By contrast, mutations in the genes encoding succinate dehydrogenase (SDH) subunits B, C, and D cause extra

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E Rapizzi, T Ercolino, L Canu, V Giaché, M Francalanci, C Pratesi, A Valeri, and M Mannelli

includes the genes encoding the four subunits of the succinate dehydrogenase (SDH), enzyme involved in the tricarboxylic acid cycle ( Baysal et al . 2000 , Niemann & Müller 2000 , Astuti et al . 2001 , Burnichon et al . 2010 ) and in the mitochondrial

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Paraskevi Xekouki and Constantine A Stratakis

Introduction Succinate dehydrogenase (SDH) or succinate-coenzyme Q reductase is a multimeric enzyme that is bound to the inner membrane of mitochondria ( Oyedotun & Lemire 2004 ). It has a dual role as it serves both as a critical step of the

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Tomáš Zelinka, Henri J L M Timmers, Anna Kozupa, Clara C Chen, Jorge A Carrasquillo, James C Reynolds, Alexander Ling, Graeme Eisenhofer, Ivica Lazúrová, Karen T Adams, Millie A Whatley, Jiří Widimský Jr, and Karel Pacak

mitochondrial complex II enzyme succinate dehydrogenase enzyme subunit B ( SDHB ; Amar et al . 2005 , Benn et al . 2006 , Brouwers et al . 2006 , Timmers et al . 2007 ). The main sites of metastatic spread of malignant PHEO/PGL are lymphatic nodes (local

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Eva Szarek, Evan R Ball, Alessio Imperiale, Maria Tsokos, Fabio R Faucz, Alessio Giubellino, François-Marie Moussallieh, Izzie-Jacques Namer, Mones S Abu-Asab, Karel Pacak, David Taïeb, J Aidan Carney, and Constantine A Stratakis

and more than half of the tumors seen in pediatric patients ( Hirota et al . 1998 , Heinrich et al . 2003 , Lasota & Miettinen 2008 , Doyle et al . 2012 ). Recently, we identified succinate dehydrogenase (SDH) deficiency, which activates

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Margo Dona, Selma Waaijers, Susan Richter, Graeme Eisenhofer, Jeroen Korving, Sarah M Kamel, Jeroen Bakkers, Elena Rapizzi, Richard J Rodenburg, Jan Zethof, Marnix Gorissen, Gert Flik, Peter M T Deen, and Henri J L M Timmers

Introduction The succinate dehydrogenase (SDH) complex located in the inner mitochondrial membrane has an essential and unique dual role in the energy-production in eukaryotic cells. It is involved in both the oxidation of succinate to

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Diana E Benn, Bruce G Robinson, and Roderick J Clifton-Bligh

Baysal et al . (2000) by combining knowledge that hypoxia increases the risk of carotid body PGLs with the presence of a hypoxia-responsive gene encoding succinate dehydrogenase subunit D ( SDHD ) within a region at chromosome 11q23 linked in family

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V H M Tsang, T Dwight, D E Benn, G Y Meyer-Rochow, A J Gill, M Sywak, S Sidhu, D Veivers, C M Sue, B G Robinson, R J Clifton-Bligh, and N R Parker

succinate dehydrogenase (SDH) subunits A, B, C and D ( SDHA, SDHB, SDHC, SDHD ; collectively SDHx ), but also in VHL, RET ( Buffet et al . 2012 ), TMEM127 ( Qin et al . 2010 ), MAX ( Comino-Mendez et al . 2011 ), SDHAF2 ( Bayley et al . 2010