Aberrant splicing exonizes C9orf72 repeat expansion in ALS/FTD

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
aberrant splicing   C9orf72   repeat expansion   ALS   frontotemporal dementia   DPR proteins   therapeutic targets  

New Pathway for ALS/FTD-Related C9orf72 Pathogenesis Revealed by Latest Nature Neuroscience Study Academic Background and Research Motivation Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are among the most challenging neurodegenerative diseases in clinical medicine, with complex pathogenesis that remains insufficiently expl...

Aberrant Splicing in Huntington’s Disease Accompanies Disrupted TDP-43 Activity and Altered m6A RNA Modification

Medicine, Neurology, Life Sciences, Cell Biology, Genetics,
Huntington’s Disease   TDP-43   m6A RNA modification   aberrant splicing   neurodegenerative disorder  

Aberrant Splicing in Huntington’s Disease Accompanies Disrupted TDP-43 Activity and Altered m6A RNA Modification Academic Background Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms. The disease is caused by a CAG repeat expansion in the HTT gene, leading to ab...