Abstract
A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.
Highlights
I Frontotemporal dementia (FTD) and amyotrophic lateral T sclerosis (ALS) are two neurodegenerative disorders that share clinical, genetic and pathological overlap
A mechanism has been proposed for the production of toxic dipeptide repeat proteins (DPR) by repeat-associated nonAUG translation (RAN) of the repeat [5,6]
Expression of the repeat construct can be stopped at any time by withdrawal of dox, allowing for reversibility studies (Figure 1A; more information about the creation of the model can be found in Additional file 1)
Summary
I Frontotemporal dementia (FTD) and amyotrophic lateral T sclerosis (ALS) are two neurodegenerative disorders that share clinical, genetic and pathological overlap. We report on an “RNA-only” gain-of-function mouse model. To study the intrinsic effect of the repeat without assessing its effect on the C9orf72 gene, we created a spatially and temporally inducible transgenic mouse model. Expression of the repeat construct can be stopped at any time by withdrawal of dox, allowing for reversibility studies (Figure 1A; more information about the creation of the model can be found in Additional file 1).
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