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Page 1
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.
Nouws J, Nijtmans L, Houten SM, van den Brand M, Huynen M, Venselaar H, Hoefs S, Gloerich J, Kronick J, Hutchin T, Willems P, Rodenburg R, Wanders R, van den Heuvel L, Smeitink J, Vogel RO. Nouws J, et al. Among authors: hoefs s. Cell Metab. 2010 Sep 8;12(3):283-94. doi: 10.1016/j.cmet.2010.08.002. Cell Metab. 2010. PMID: 20816094 Free article.
Molecular base of biochemical complex I deficiency.
Hoefs SJ, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Hoefs SJ, et al. Mitochondrion. 2012 Sep;12(5):520-32. doi: 10.1016/j.mito.2012.07.106. Epub 2012 Jul 20. Mitochondrion. 2012. PMID: 22820119 Review.
NDUFA2 complex I mutation leads to Leigh disease.
Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP. Hoefs SJ, et al. Am J Hum Genet. 2008 Jun;82(6):1306-15. doi: 10.1016/j.ajhg.2008.05.007. Am J Hum Genet. 2008. PMID: 18513682 Free PMC article.
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, Venselaar H, Shaag A, Barghuti F, Reish O, Shohat M, Huynen MA, Smeitink JA, van den Heuvel LP, Nijtmans LG. Saada A, et al. Among authors: hoefs sj. Am J Hum Genet. 2009 Jun;84(6):718-27. doi: 10.1016/j.ajhg.2009.04.020. Epub 2009 May 21. Am J Hum Genet. 2009. PMID: 19463981 Free PMC article.
Clinical CVVH model removes endothelium-derived microparticles from circulation.
Abdelhafeez AH, Jeziorczak PM, Schaid TR, Hoefs SL, Kaul S, Nanchal R, Jacobs ER, Densmore JC. Abdelhafeez AH, et al. Among authors: hoefs sl. J Extracell Vesicles. 2014 Feb 27;3. doi: 10.3402/jev.v3.23498. eCollection 2014. J Extracell Vesicles. 2014. PMID: 24596654 Free PMC article.
17 results