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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: prins fa. J Pathol. 2003 Nov;201(3):480-6. doi: 10.1002/path.1461. J Pathol. 2003. PMID: 14595761
Replication of Plasmodium in reticulocytes can occur without hemozoin formation, resulting in chloroquine resistance.
Lin JW, Spaccapelo R, Schwarzer E, Sajid M, Annoura T, Deroost K, Ravelli RB, Aime E, Capuccini B, Mommaas-Kienhuis AM, O'Toole T, Prins F, Franke-Fayard BM, Ramesar J, Chevalley-Maurel S, Kroeze H, Koster AJ, Tanke HJ, Crisanti A, Langhorne J, Arese P, Van den Steen PE, Janse CJ, Khan SM. Lin JW, et al. J Exp Med. 2015 Jun 1;212(6):893-903. doi: 10.1084/jem.20141731. Epub 2015 May 4. J Exp Med. 2015. PMID: 25941254 Free PMC article.
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: prins fa. PLoS One. 2009 Nov 24;4(11):e7987. doi: 10.1371/journal.pone.0007987. PLoS One. 2009. PMID: 19956719 Free PMC article.
74 results