RNA-binding proteins (RBPs) are critical effectors of gene expression, and as such their
malfunction underlies the origin of many diseases. RBPs can recognize hundreds of …

With the increase in the ageing population, neurodegenerative disease is devastating to
families and poses a huge burden on society. The brain and spinal cord are extraordinarily …

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

Fragile X-associated tremor ataxia syndrome (FXTAS) results from a CGG repeat expansion
in the 5′ UTR of FMR1. This repeat is thought to elicit toxicity as RNA, yet disease brains …

Fragile X syndrome (FXS) is a common form of inherited intellectual disability and is one of
the leading known causes of autism. The mutation responsible for FXS is a large expansion …

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

The discovery that expansion of unstable repeats can cause a variety of neurological
disorders has changed the landscape of disease-oriented research for several forms of …

Human genes contain a dense array of diverse cis-acting elements that make up a code
required for the expression of correctly spliced mRNAs. Alternative splicing generates a …

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) share phenotypic
and pathologic overlap. Recently, an expansion of GGGGCC repeats in the first intron of …

Nearly 30 hereditary disorders in humans result from an increase in the number of copies of
simple repeats in genomic DNA. These DNA repeats seem to be predisposed to such …