Article
Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors.
Biochimica et biophysica acta - 1 May 2013
Baysal Bora E
Abstract excerpt
Germ line heterozygous mutations in the structural subunit genes of mitochondrial complex II (succinate dehydrogenase; SDH) and the regulatory gene SDHAF2 predispose to paraganglioma tumors which show constitutive activation of hypoxia inducible pathways. Mutations in SDHD and SDHAF2 cause highly penetrant multifocal tumor development after a paternal transmission, whereas maternal transmission rarely, if ever,...
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