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Page 1
Endocrine disorders in mitochondrial disease.
Schaefer AM, Walker M, Turnbull DM, Taylor RW. Schaefer AM, et al. Mol Cell Endocrinol. 2013 Oct 15;379(1-2):2-11. doi: 10.1016/j.mce.2013.06.004. Epub 2013 Jun 13. Mol Cell Endocrinol. 2013. PMID: 23769710 Free PMC article. Review.
Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure.
Pisano A, Cerbelli B, Perli E, Pelullo M, Bargelli V, Preziuso C, Mancini M, He L, Bates MG, Lucena JR, Della Monica PL, Familiari G, Petrozza V, Nediani C, Taylor RW, d'Amati G, Giordano C. Pisano A, et al. Cardiovasc Pathol. 2016 Mar-Apr;25(2):103-12. doi: 10.1016/j.carpath.2015.09.009. Epub 2015 Sep 30. Cardiovasc Pathol. 2016. PMID: 26764143 Free PMC article.
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW. Bonnen PE, et al. Am J Hum Genet. 2013 Sep 5;93(3):471-81. doi: 10.1016/j.ajhg.2013.07.017. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993193 Free PMC article.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Carrozzo R, et al. J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16. J Inherit Metab Dis. 2016. PMID: 26475597
42 results