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Expression of mutant exon 1 huntingtin fragments in human neural stem cells and neurons causes inclusion formation and mitochondrial dysfunction.
Ghosh R, Wood-Kaczmar A, Dobson L, Smith EJ, Sirinathsinghji EC, Kriston-Vizi J, Hargreaves IP, Heaton R, Herrmann F, Abramov AY, Lam AJ, Heales SJ, Ketteler R, Bates GP, Andre R, Tabrizi SJ. Ghosh R, et al. Among authors: abramov ay. FASEB J. 2020 Jun;34(6):8139-8154. doi: 10.1096/fj.201902277RR. Epub 2020 Apr 23. FASEB J. 2020. PMID: 32329133 Free PMC article.
PINK1 is necessary for long term survival and mitochondrial function in human dopaminergic neurons.
Wood-Kaczmar A, Gandhi S, Yao Z, Abramov AY, Miljan EA, Keen G, Stanyer L, Hargreaves I, Klupsch K, Deas E, Downward J, Mansfield L, Jat P, Taylor J, Heales S, Duchen MR, Latchman D, Tabrizi SJ, Wood NW. Wood-Kaczmar A, et al. Among authors: abramov ay. PLoS One. 2008 Jun 18;3(6):e2455. doi: 10.1371/journal.pone.0002455. PLoS One. 2008. PMID: 18560593 Free PMC article.
Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment.
Duberley KE, Abramov AY, Chalasani A, Heales SJ, Rahman S, Hargreaves IP. Duberley KE, et al. Among authors: abramov ay. J Inherit Metab Dis. 2013 Jan;36(1):63-73. doi: 10.1007/s10545-012-9511-0. Epub 2012 Jul 6. J Inherit Metab Dis. 2013. PMID: 22767283
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC, Houlden H. Manole A, et al. Among authors: abramov ay. Brain. 2017 Nov 1;140(11):2820-2837. doi: 10.1093/brain/awx231. Brain. 2017. PMID: 29053833 Free PMC article.
209 results