Most neurodegenerative disorders are thought to result primarily from the accumulation of
misfolded proteins, which interfere with protein homeostasis in neurons. For a subset of …

Several neurodegenerative disorders like amyotrophic lateral sclerosis (ALS) and
spinocerebellar ataxia (SCA) are caused by non‐coding nucleotide repeat expansions …

A novel RNA-mediated disease mechanism has emerged from studies on dominantly
inherited neurological disorders caused by unstable microsatellite expansions in non …

Discrete and punctate nuclear RNA foci are characteristic molecular hallmarks of
pathogenesis in myotonic dystrophy type 1 and type 2. Intranuclear RNA inclusions of …

Several examples have come to light in which mutations in non-protein-coding regions give
rise to a deleterious gain-of-function by non-coding RNA. Expression of the toxic RNA is …

A large number of human diseases are caused by expansion of repeat sequences–typically
trinucleotide repeats–within the respective disease genes. The abnormally expanded …

Expanded, non-coding RNAs can exhibit a deleterious gain-of-function causing human
disease through abnormal interactions with RNA-binding proteins. Myotonic dystrophy (DM) …

Repeat expansion mutations cause at least 22 inherited neurological diseases. The
complexity of repeat disease genetics and pathobiology has revealed unexpected shared …

More than 40 diseases, most of which primarily affect the nervous system, are caused by
expansions of simple sequence repeats dispersed throughout the human genome …

Cellular viability depends upon the well-orchestrated functions carried out by numerous
protein-coding and non-coding RNAs, as well as RNA-binding proteins. During the last …