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The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.
Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J, Ellazam B, Webb N, Antonicka H, Janer A, Brunel-Guitton C, Elpeleg O, Mitchell G, Shoubridge EA. Sasarman F, et al. Hum Mol Genet. 2015 May 15;24(10):2841-7. doi: 10.1093/hmg/ddv044. Epub 2015 Feb 4. Hum Mol Genet. 2015. PMID: 25652405 Free PMC article.
Treatment of cobalamin C (cblC) deficiency during pregnancy.
Brunel-Guitton C, Costa T, Mitchell GA, Lambert M. Brunel-Guitton C, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S409-12. doi: 10.1007/s10545-010-9202-7. Epub 2010 Sep 10. J Inherit Metab Dis. 2010. PMID: 20830523
Inborn errors of cytoplasmic triglyceride metabolism.
Wu JW, Yang H, Wang SP, Soni KG, Brunel-Guitton C, Mitchell GA. Wu JW, et al. J Inherit Metab Dis. 2015 Jan;38(1):85-98. doi: 10.1007/s10545-014-9767-7. Epub 2014 Oct 10. J Inherit Metab Dis. 2015. PMID: 25300978 Review.
Mitochondrial Diseases and Cardiomyopathies.
Brunel-Guitton C, Levtova A, Sasarman F. Brunel-Guitton C, et al. Can J Cardiol. 2015 Nov;31(11):1360-76. doi: 10.1016/j.cjca.2015.08.017. Epub 2015 Aug 28. Can J Cardiol. 2015. PMID: 26518446 Review.
34 results