Article
Structural and functional consequences of succinate dehydrogenase subunit B mutations.
Endocrine-related cancer - 1 Jun 2015
Kim E, Rath E M, Tsang V H M, Duff A P, Robinson B G, Church W B, Benn D E, Dwight T, Clifton-Bligh R J
Abstract excerpt
Mitochondrial dysfunction, due to mutations of the gene encoding succinate dehydrogenase (SDH), has been implicated in the development of adrenal phaeochromocytomas, sympathetic and parasympathetic paragangliomas, renal cell carcinomas, gastrointestinal stromal tumours and more recently pituitary tumours. Underlying mechanisms behind germline SDH subunit B (SDHB) mutations and their associated risk of disease are...
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