The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

Cellular compartments and organelles organize biological matter. Most well-known
organelles are separated by a membrane boundary from their surrounding milieu. There are …

Expansions of short nucleotide repeats produce several neurological and neuromuscular
disorders including Huntington disease, muscular dystrophy, and amyotrophic lateral …

Fragile X syndrome (FXS), the most common genetic form of intellectual disability in males,
is caused by silencing of the FMR1 gene associated with hypermethylation of the CGG …

Eukaryotic cells contain large assemblies of RNA and protein, referred to as
ribonucleoprotein (RNP) granules, which include cytoplasmic P-bodies, stress granules, and …

Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …

Hexanucleotide expansions in C9ORF72 are the most frequent genetic cause of
amyotrophic lateral sclerosis and frontotemporal dementia. Disease mechanisms were …

Hexanucleotide expansions in C9orf72, which encodes a predicted guanine exchange
factor, are the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and …

Antisense oligonucleotides represent a novel therapeutic platform for the discovery of
medicines that have the potential to treat most neurodegenerative diseases. Antisense …