Article
Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression.
Neurology - 23 Jan 2018
McGoldrick Philip, Zhang Ming, van Blitterswijk Marka, Sato Christine, Moreno Danielle, Xiao Shangxi, Zhang Ashley B, McKeever Paul M, Weichert Anna, Schneider Raphael, Keith Julia, Petrucelli Leonard, Rademakers Rosa, Zinman Lorne, Robertson Janice, Rogaeva Ekaterina
Abstract excerpt
OBJECTIVE: Suggested C9orf72 disease mechanisms for amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration include C9orf72 haploinsufficiency, G4C2/C4G2 RNA foci, and dipeptide repeat (DPR) proteins translated from the G4C2 expansion; however, the role of small expansions (e.g., 30-90 repeats) is unknown and was investigated here. METHODS: We conducted a molecular and pathology study of a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.