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Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.
Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW 3rd, Cornelisse CJ, Devilee P, Devlin B. Baysal BE, et al. Among authors: cornelisse cj. Science. 2000 Feb 4;287(5454):848-51. doi: 10.1126/science.287.5454.848. Science. 2000. PMID: 10657297
SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology.
Douwes Dekker PB, Hogendoorn PC, Kuipers-Dijkshoorn N, Prins FA, van Duinen SG, Taschner PE, van der Mey AG, Cornelisse CJ. Douwes Dekker PB, et al. Among authors: cornelisse cj. J Pathol. 2003 Nov;201(3):480-6. doi: 10.1002/path.1461. J Pathol. 2003. PMID: 14595761
Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma.
Bayley JP, van Minderhout I, Hogendoorn PC, Cornelisse CJ, van der Wal A, Prins FA, Teppema L, Dahan A, Devilee P, Taschner PE. Bayley JP, et al. Among authors: cornelisse cj. PLoS One. 2009 Nov 24;4(11):e7987. doi: 10.1371/journal.pone.0007987. PLoS One. 2009. PMID: 19956719 Free PMC article.
291 results