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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Lake NJ, et al. Among authors: houten sm. Am J Hum Genet. 2018 Apr 5;102(4):713. doi: 10.1016/j.ajhg.2018.03.015. Am J Hum Genet. 2018. PMID: 29625026 Free PMC article. No abstract available.
A Next Generation Multiscale View of Inborn Errors of Metabolism.
Argmann CA, Houten SM, Zhu J, Schadt EE. Argmann CA, et al. Among authors: houten sm. Cell Metab. 2016 Jan 12;23(1):13-26. doi: 10.1016/j.cmet.2015.11.012. Epub 2015 Dec 17. Cell Metab. 2016. PMID: 26712461 Free PMC article. Review.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Lake NJ, et al. Among authors: houten sm. Am J Hum Genet. 2017 Aug 3;101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005. Am J Hum Genet. 2017. PMID: 28777931 Free PMC article.
Germline deletion of Krüppel-like factor 14 does not increase risk of diet induced metabolic syndrome in male C57BL/6 mice.
Argmann CA, Violante S, Dodatko T, Amaro MP, Hagen J, Gillespie VL, Buettner C, Schadt EE, Houten SM. Argmann CA, et al. Among authors: houten sm. Biochim Biophys Acta Mol Basis Dis. 2017 Dec;1863(12):3277-3285. doi: 10.1016/j.bbadis.2017.09.021. Epub 2017 Sep 28. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28962896 Free PMC article.
Lipid and bile acid analysis.
Argmann CA, Houten SM, Champy MF, Auwerx J. Argmann CA, et al. Among authors: houten sm. Curr Protoc Mol Biol. 2006 Aug;Chapter 29:Unit 29B.2. doi: 10.1002/0471142727.mb29b02s75. Curr Protoc Mol Biol. 2006. PMID: 18265385
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: houten sm. Cell Metab. 2010 Sep 8;12(3):283-94. doi: 10.1016/j.cmet.2010.08.002. Cell Metab. 2010. PMID: 20816094 Free article.
170 results