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The mitochondrial SDHD gene is required for early embryogenesis, and its partial deficiency results in persistent carotid body glomus cell activation with full responsiveness to hypoxia.
Mol Cell Biol. 2004 Dec;24(24):10933-40. doi: 10.1128/MCB.24.24.10933-10940.2004.
Mol Cell Biol. 2004.
PMID: 15572694
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.
PLoS One. 2009 Nov 24;4(11):e7987. doi: 10.1371/journal.pone.0007987.
PLoS One. 2009.
PMID: 19956719
Free PMC article.
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Differential impairment of catecholaminergic cell maturation and survival by genetic mitochondrial complex II dysfunction.
Díaz-Castro B, Pintado CO, García-Flores P, López-Barneo J, Piruat JI.
Díaz-Castro B, et al.
Mol Cell Biol. 2012 Aug;32(16):3347-57. doi: 10.1128/MCB.00128-12. Epub 2012 Jun 18.
Mol Cell Biol. 2012.
PMID: 22711987
Free PMC article.
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