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Protein aggregation and calcium dysregulation are hallmarks of familial Parkinson's disease in midbrain dopaminergic neurons.
Virdi GS, Choi ML, Evans JR, Yao Z, Athauda D, Strohbuecker S, Nirujogi RS, Wernick AI, Pelegrina-Hidalgo N, Leighton C, Saleeb RS, Kopach O, Alrashidi H, Melandri D, Perez-Lloret J, Angelova PR, Sylantyev S, Eaton S, Heales S, Rusakov DA, Alessi DR, Kunath T, Horrocks MH, Abramov AY, Patani R, Gandhi S. Virdi GS, et al. Among authors: heales s. NPJ Parkinsons Dis. 2022 Nov 24;8(1):162. doi: 10.1038/s41531-022-00423-7. NPJ Parkinsons Dis. 2022. PMID: 36424392 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: heales sj. 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
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. 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.
263 results