SPG7 variant escapes phosphorylation-regulated processing by AFG3L2, elevates mitochondrial ROS, and is associated with multiple clinical phenotypes.
Almontashiri NA, Chen HH, Mailloux RJ, Tatsuta T, Teng AC, Mahmoud AB, Ho T, Stewart NA, Rippstein P, Harper ME, Roberts R, Willenborg C, Erdmann J; CARDIoGRAM Consortium; Pastore A, McBride HM, Langer T, Stewart AF.
Almontashiri NA, et al. Among authors: mcbride hm.
Cell Rep. 2014 May 8;7(3):834-47. doi: 10.1016/j.celrep.2014.03.051. Epub 2014 Apr 24.
Cell Rep. 2014.
PMID: 24767997
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