Altered Phase Separation and Cellular Impact in C9orf72 -Linked ALS/FTD

Since the discovery of the repeat expansion mutation as causative for chromosome 9-linked amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in 2011, a multitude of cellular pathways have been implicated. However, evidence has also been accumulating for a key mechanism of cellular...

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Veröffentlicht in:	Frontiers in cellular neuroscience 2021-04, Vol.15, p.664151-664151
Hauptverfasser:	Solomon, Daniel A, Smikle, Rebekah, Reid, Matthew J, Mizielinska, Sarah
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino acids Amyotrophic lateral sclerosis Autophagy C9orf72 Cajal bodies Cellular Neuroscience Chromosome 9 Dementia disorders Frontotemporal dementia membraneless organelles Mutation Nucleoli Organelles Pathogenesis Pathology phase separation Phase transitions Physiology Polypeptides Proteins Ribonucleic acid RNA TDP-43 therapeutics Transcription
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