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Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathy.
Crooks DR, Jeong SY, Tong WH, Ghosh MC, Olivierre H, Haller RG, Rouault TA. Crooks DR, et al. Among authors: haller rg. J Biol Chem. 2012 Nov 23;287(48):40119-30. doi: 10.1074/jbc.M112.418889. Epub 2012 Oct 3. J Biol Chem. 2012. PMID: 23035118 Free PMC article.
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. Alston CL, et al. Among authors: haller rg. Am J Hum Genet. 2016 Jul 7;99(1):217-27. doi: 10.1016/j.ajhg.2016.05.021. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374774 Free PMC article.
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.
Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M. Powell CA, et al. Among authors: haller rg. Am J Hum Genet. 2015 Aug 6;97(2):319-28. doi: 10.1016/j.ajhg.2015.06.011. Epub 2015 Jul 16. Am J Hum Genet. 2015. PMID: 26189817 Free PMC article.
203 results