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研究领域

Mitochondria are essential organelles and are present in all of our cells. They are known as the "powerhouse" of the cell since they burn carbon to make chemical energy (ATP). They are also the "poison-cupboard" of our cells since if the mitochondrial outer membrane is opened, proteins are released that cause cell death (apoptosis). Cell death is important since as our cells divide we must kill others - otherwise cancers may arise and so this process is very well regulated. Mitochondria are also involved in aging, reactive oxygen species production, immune responses, and defects in mitochondria are implicated in many diseases including Parkinson's disease and Alzheimer's.

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Accessory subunits are integral for assembly and function of human mitochondrial complex I. David A. Stroud, Elliot E. Surgenor, Luke E. Formosa, Boris Reljic, Ann E. Frazier, Marris G. Dibley, Laura D. Osellame, Tegan Stait, Traude H. Beilharz, David R. Thorburn, Agus Salim & Michael T. Ryan Nature (14 September 2016) | doi:10.1038/nature19754 Pubmed http://rdcu.be/kkQg Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. Charlotte AL, Alison CG, Luke FE, 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 JLK, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. The American Journal of Human Genetics, 99, 2016 June, DOI: http://dx.doi.org/10.1016/j.ajhg.2016.05.021 Pubmed A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to β-Cell Mitochondrial Dysfunction in Type 2 Diabetes. PeirisH, DuffieldMD, FadistaJ, JessupCF, KashmirV, GendersAJ, McGeeSL, MartinAM, SaiediM, MortonN, CarterR, CousinMA, KokotosAC, OskolkovN, VolkovP, HoughTA, FisherEM, TybulewiczVL, BusciglioJ, CoskunPE, BeckerA, BelichenkoPV, MobleyWC, Ryan MT, Chan JY, LaybuttDR, CoatesPT, YangS, LingC, GroopL, PritchardMA, KeatingDJ. PLoS Genet. 2016 May 19;12(5):e1006033. doi: 10.1371/journal.pgen.1006033. Pubmed Cooperative and independent roles of Drp1 adaptors Mff and MiD49/51 in mitochondrial fission. Osellame LD, Singh AP, Stroud DA, Palmer CS, Stojanovski D, Ramachandran R, Ryan MT. J Cell Sci. 2016 Apr 12. pii: jcs.185165. Pubmed Deficiency in apoptosis inducing factor recapitulates chronic kidney disease via aberrant mitochondrial homeostasis. Coughlan MT, Higgins GC, Nguyen TV, Penfold SA, Thallas-Bonke V, Tan SM, Ramm G, Van Bergen NJ, Henstridge DC, Sourris KC, Harcourt BE, Trounce IA, Robb PM, Laskowski A, McGee SL, Genders AJ, Walder K, Drew BG, Gregorevic P, Qian H, Thomas MC, Jerums G, Macisaac RJ, Skene A, Power DA, Ekinci EI, Wijeyeratne XW, Gallo LA, Herman-Edelstein M, Ryan MT, Cooper ME, Thorburn DR, Forbes JM. Diabetes. 2016 Jan 28. pii: db150864. Pubmed Translation and Assembly of Radiolabeled Mitochondrial DNA-Encoded Protein Subunits from Cultured Cells and Isolated Mitochondria. Formosa LE, Hofer A, Tischner C, Wenz T, Ryan MT. Methods Mol Biol. 2016;1351:115-29. doi: 10.1007/978-1-4939-3040-1_9. Pubmed

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