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Page 1
LETM1 couples mitochondrial DNA metabolism and nutrient preference.
Durigon R, Mitchell AL, Jones AW, Manole A, Mennuni M, Hirst EM, Houlden H, Maragni G, Lattante S, Doronzio PN, Dalla Rosa I, Zollino M, Holt IJ, Spinazzola A. Durigon R, et al. Among authors: mitchell al. EMBO Mol Med. 2018 Sep;10(9):e8550. doi: 10.15252/emmm.201708550. EMBO Mol Med. 2018. PMID: 30012579 Free PMC article.
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A. Desai R, et al. Among authors: mitchell alr. Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094. Brain. 2017. PMID: 28549128 Free PMC article.
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
Bugiardini E, Mitchell AL, Rosa ID, Horning-Do HT, Pitmann AM, Poole OV, Holton JL, Shah S, Woodward C, Hargreaves I, Quinlivan R, Amunts A, Wiesner RJ, Houlden H, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A. Bugiardini E, et al. Among authors: mitchell al. Hum Mol Genet. 2019 Aug 15;28(16):2711-2719. doi: 10.1093/hmg/ddz093. Hum Mol Genet. 2019. PMID: 31039582 Free PMC article.
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Horga A, Manole A, Mitchell AL, Bugiardini E, Hargreaves IP, Mowafi W, Bettencourt C, Blakely EL, He L, Polke JM, Woodward CE, Dalla Rosa I, Shah S, Pittman AM, Quinlivan R, Reilly MM, Taylor RW, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A, Houlden H. Horga A, et al. Among authors: mitchell al. Mol Biol Rep. 2021 Mar;48(3):2093-2104. doi: 10.1007/s11033-021-06188-1. Epub 2021 Mar 19. Mol Biol Rep. 2021. PMID: 33742325
The effects of ultra-selective beta1-antagonism on the metabolic and cytokine profile in septic shock patients receiving noradrenaline: a sub-investigation from the STRESS-L Randomised Study.
Thomas JL, McGee KC, Hossain A, Perkins GD, Gordon AC, Young D, McAuley D, Singer M, Lall R, Kramaric T, Lord JM, Whitehouse T, Mur LAJ; STRESS-L. collaborators. Thomas JL, et al. Intensive Care Med Exp. 2025 Jan 22;13(1):9. doi: 10.1186/s40635-024-00708-6. Intensive Care Med Exp. 2025. PMID: 39841388
FLT3 is genetically essential for ITD-mutated leukemic stem cells but dispensable for human hematopoietic stem cells.
Araújo JL, Wagenblast E, Voisin V, McLeod J, Gan OI, Bansal S, Jin L, Mitchell A, Gratton B, Cutting SK, Arruda A, Doedens M, Travas A, Kim DDH, Capo-Chichi JM, Abelson S PhD, Minden MD, Wang JC, Sobrinho-Simões MA, Pinto-do-Ó P, Lechman ER, Dick JE. Araújo JL, et al. Among authors: mitchell a. Blood. 2025 Jan 22:blood.2024025886. doi: 10.1182/blood.2024025886. Online ahead of print. Blood. 2025. PMID: 39841016
4,055 results