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Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
Tegelberg S, Tomašić N, Kallijärvi J, Purhonen J, Elmér E, Lindberg E, Nord DG, Soller M, Lesko N, Wedell A, Bruhn H, Freyer C, Stranneheim H, Wibom R, Nennesmo I, Wredenberg A, Eklund EA, Fellman V. Tegelberg S, et al. Among authors: fellman v. Orphanet J Rare Dis. 2017 Apr 20;12(1):73. doi: 10.1186/s13023-017-0624-2. Orphanet J Rare Dis. 2017. PMID: 28427446 Free PMC article.
Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice.
Tomašić N, Kotarsky H, de Oliveira Figueiredo R, Hansson E, Mörgelin M, Tomašić I, Kallijärvi J, Elmér E, Jauhiainen M, Eklund EA, Fellman V. Tomašić N, et al. Among authors: fellman v. Biochim Biophys Acta Mol Basis Dis. 2020 Jan 1;1866(1):165573. doi: 10.1016/j.bbadis.2019.165573. Epub 2019 Oct 29. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31672551 Free article.
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, Houlden H, Invernizzi F, Kamarus Jaman NB, Kurian MA, Morava E, Naess K, Ortigoza-Escobar JD, Parikh S, Pennisi A, Barcia G, Tylleskär KB, Brackman D, Wortmann SB, Taylor JC, Bindoff LA, Fellman V, Rahman S. Hikmat O, et al. Among authors: fellman v. Ann Clin Transl Neurol. 2021 Nov;8(11):2155-2165. doi: 10.1002/acn3.51470. Epub 2021 Oct 18. Ann Clin Transl Neurol. 2021. PMID: 34662929 Free PMC article.
195 results