In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers
Sign Up to like & getrecommendations! Published in 2017 at "Acta Neuropathologica"
DOI: 10.1007/s00401-017-1725-7
Abstract: A growing body of evidence suggests that a loss of chromosome 9 open reading frame 72 (C9ORF72) expression, formation of dipeptide-repeat proteins, and generation of RNA foci contribute to disease pathogenesis in amyotrophic lateral sclerosis… read more here.
Keywords: c9orf72 expansion; rna foci; expansion carriers; rna ... See more keywords
C9orf72 expansion within astrocytes reduces metabolic flexibility in amyotrophic lateral sclerosis
Sign Up to like & getrecommendations! Published in 2019 at "Brain"
DOI: 10.1093/brain/awz302
Abstract: Energy metabolism is altered in amyotrophic lateral sclerosis and its animal models. Using metabolic profiling, Allen et al. reveal a loss of metabolic flexibility in induced astrocytes derived from patients with C9orf72 ALS, caused by… read more here.
Keywords: amyotrophic lateral; metabolic flexibility; lateral sclerosis; c9orf72 expansion ... See more keywords