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Selective striatal mtDNA depletion in end-stage Huntington's disease R6/2 mice.
Hering T, Birth N, Taanman JW, Orth M. Hering T, et al. Exp Neurol. 2015 Apr;266:22-9. doi: 10.1016/j.expneurol.2015.02.004. Epub 2015 Feb 12. Exp Neurol. 2015. PMID: 25682918
Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Taanman JW, Daras M, Albrecht J, Davie CA, Mallam EA, Muddle JR, Weatherall M, Warner TT, Schapira AH, Ginsberg L. Taanman JW, et al. Neuromuscul Disord. 2009 Feb;19(2):151-4. doi: 10.1016/j.nmd.2008.11.002. Epub 2008 Dec 3. Neuromuscul Disord. 2009. PMID: 19056268
Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy.
Gegg ME, Cooper JM, Chau KY, Rojo M, Schapira AH, Taanman JW. Gegg ME, et al. Hum Mol Genet. 2010 Dec 15;19(24):4861-70. doi: 10.1093/hmg/ddq419. Epub 2010 Sep 24. Hum Mol Genet. 2010. PMID: 20871098 Free PMC article.
Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.
Pitceathly RD, Fassone E, Taanman JW, Sadowski M, Fratter C, Mudanohwo EE, Woodward CE, Sweeney MG, Holton JL, Hanna MG, Rahman S. Pitceathly RD, et al. J Med Genet. 2011 Sep;48(9):610-7. doi: 10.1136/jmg.2010.088328. Epub 2011 Mar 4. J Med Genet. 2011. PMID: 21378381
Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.
Devine MJ, Kaganovich A, Ryten M, Mamais A, Trabzuni D, Manzoni C, McGoldrick P, Chan D, Dillman A, Zerle J, Horan S, Taanman JW, Hardy J, Marti-Masso JF, Healy D, Schapira AH, Wolozin B, Bandopadhyay R, Cookson MR, van der Brug MP, Lewis PA. Devine MJ, et al. PLoS One. 2011;6(7):e22489. doi: 10.1371/journal.pone.0022489. Epub 2011 Jul 22. PLoS One. 2011. PMID: 21799870 Free PMC article.
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.
Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, Taanman JW, Hanna MG; UK10K Consortium. Pitceathly RD, et al. Cell Rep. 2013 Jun 27;3(6):1795-805. doi: 10.1016/j.celrep.2013.05.005. Epub 2013 Jun 6. Cell Rep. 2013. PMID: 23746447 Free PMC article.
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