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Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
Charlesworth G, Angelova PR, Bartolomé-Robledo F, Ryten M, Trabzuni D, Stamelou M, Abramov AY, Bhatia KP, Wood NW. Charlesworth G, et al. Among authors: abramov ay. Am J Hum Genet. 2015 Apr 2;96(4):657-65. doi: 10.1016/j.ajhg.2015.02.007. Epub 2015 Mar 19. Am J Hum Genet. 2015. PMID: 25799108 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.
PINK1 cleavage at position A103 by the mitochondrial protease PARL.
Deas E, Plun-Favreau H, Gandhi S, Desmond H, Kjaer S, Loh SH, Renton AE, Harvey RJ, Whitworth AJ, Martins LM, Abramov AY, Wood NW. Deas E, et al. Among authors: abramov ay. Hum Mol Genet. 2011 Mar 1;20(5):867-79. doi: 10.1093/hmg/ddq526. Epub 2010 Dec 6. Hum Mol Genet. 2011. PMID: 21138942 Free PMC article.
209 results