Article
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.
Human molecular genetics - 15 Feb 2013
Panizza Elena, Ercolino Tonino, Mori Luigi, Rapizzi Elena, Castellano Maurizio, Opocher Giuseppe, Ferrero Ileana, Neumann Hartmut P H, Mannelli Massimo, Goffrini Paola
Abstract excerpt
SDH genes, encoding succinate dehydrogenase, act as tumour suppressor genes, linking mitochondrial dysfunction with tumourigenesis. Heterozygous germline mutations in SDHA, SDHB, SDHC, SDHD and in the assembly factor encoding gene SDHAF2 have all been shown to predispose to heritable endocrine neoplasias such as pheochromocytomas (PHEO) and paragangliomas (PGLs) called 'PHEO-PGL syndrome'. SDH genes mutations, in...
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