TY - JOUR
AU - LaClair, Katherine D
AU - Zhou, Qihui
AU - Michaelsen, Meike
AU - Wefers, Benedikt
AU - Brill, Monika S
AU - Janjic, Aleksandar
AU - Rathkolb, Birgit
AU - Farny, Daniel
AU - Cygan, Mikolaj
AU - de Angelis, Martin Hrabe
AU - Wurst, Wolfgang
AU - Neumann, Manuela
AU - Enard, Wolfgang
AU - Misgeld, Thomas
AU - Arzberger, Thomas
AU - Edbauer, Dieter
TI - Congenic expression of poly-GA but not poly-PR in mice triggers selective neuron loss and interferon responses found in C9orf72 ALS.
JO - Acta neuropathologica
VL - 140
IS - 2
SN - 1432-0533
CY - Heidelberg
PB - Springer
M1 - DZNE-2020-01337
SP - 121 - 142
PY - 2020
AB - Expansion of a (G4C2)n repeat in C9orf72 causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the link of the five repeat-encoded dipeptide repeat (DPR) proteins to neuroinflammation, TDP-43 pathology, and neurodegeneration is unclear. Poly-PR is most toxic in vitro, but poly-GA is far more abundant in patients. To directly compare these in vivo, we created congenic poly-GA and poly-PR mice. 40
KW - Amyotrophic Lateral Sclerosis: genetics
KW - Amyotrophic Lateral Sclerosis: immunology
KW - Amyotrophic Lateral Sclerosis: pathology
KW - Animals
KW - C9orf72 Protein: genetics
KW - DNA Repeat Expansion: genetics
KW - Disease Models, Animal
KW - Interferons: biosynthesis
KW - Mice
KW - Mice, Transgenic
KW - Nerve Degeneration: genetics
KW - Nerve Degeneration: immunology
KW - Nerve Degeneration: pathology
KW - Neurons: pathology
LB - PUB:(DE-HGF)16
C6 - pmid:32562018
C2 - pmc:PMC7360660
DO - DOI:10.1007/s00401-020-02176-0
UR - https://pub.dzne.de/record/153340
ER -