Article
Dipeptide repeat derived from C9orf72 hexanucleotide expansions forms amyloids or natively unfolded structures in vitro.
Biochemical and biophysical research communications - 28 May 2020
Brasseur Laurent, Coens Audrey, Waeytens Jehan, Melki Ronald, Bousset Luc
Abstract excerpt
The abnormal repetition of the hexanucleotide GGGGCC within the C9orf72 gene is the most common genetic cause of both Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). Different hypothesis have been proposed to explain the pathogenicity of this mutation. Among them, the production of aberrant proteins called Dipeptide Repeat Proteins (DPR) from the repeated sequence. Those proteins are of...
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