C9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration
作者： Shangxi Xiao , Laura MacNair , Jesse McLean , Phillip McGoldrick , Paul McKeever
DOI: 10.1016/J.BRAINRES.2016.04.062
关键词:
摘要: A hexanucleotide (G4C2) repeat expansion in the 5' non-coding region C9orf72 is most common genetic cause of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Three modes toxicity have been proposed: gain function through formation RNA foci sequestration binding proteins; expression dipeptide proteins generated by repeat-associated non-ATG translation; loss due to haploinsufficiency. Much known about proposed mechanisms, but there little knowledge normal cellular consequences if its activity perturbed. Here we will review what at transcript protein levels how changes could contribute disease pathogenesis. This article part a Special Issue entitled SI:RNA Metabolism Disease.
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