Poly-glycine-alanine exacerbates C9orf72 repeat expansion-mediated DNA damage via sequestration of phosphorylated ATM and loss of nuclear hnRNPA3.

Y, Nihei; K, Mori; G, Werner; T, Arzberger; Q, Zhou; B, Khosravi; J, Japtok; A, Hermann; A, Sommacal; M, Weber; F, Kamp; B, Nuscher; D, Edbauer; C, Haass

doi:10.1007/s00401-019-02082-0

Public

Poly-glycine-alanine exacerbates C9orf72 repeat expansion-mediated DNA damage via sequestration of phosphorylated ATM and loss of nuclear hnRNPA3.

Shared by NobleBlocks on Oct 23, 2019 • 12:00 AM UTC

Authors:

Nihei Y

Mori K

Werner G

Abstract

Repeat expansion in C9orf72 causes amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Expanded sense and antisense repeat RNA transcripts in C9orf72 are translated into five dipeptide-repeat proteins (DPRs) in an AUG-independent manner. We previously identified the heterogeneous ri...

Subject

DNA damage

Neurodegeneration

Amyotrophic Lateral Sclerosis

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