The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of
neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and …

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 …

General cognitive function is a prominent and relatively stable human trait that is associated
with many important life outcomes. We combine cognitive and genetic data from the …

Defects in the functions of RNA binding proteins (RBPs) are at the origin of many diseases;
however, targeting RBPs with conventional drugs has proven difficult. PROTACs are a new …

Alternative splicing (AS) enables programmed diversity of gene expression across tissues
and development. We show here that binding in distal intronic regions (> 500 nucleotides …

The spinocerebellar ataxias type 1 (SCA1), 2 (SCA2), 3 (SCA3), 6 (SCA6) and 7 (SCA7) are
genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs) …

The list of developmental and degenerative diseases that are caused by expansion of
unstable repeats continues to grow, and is now approaching 20 disorders. The pathogenic …

NeuN (neuronal nuclei) is a neuron-specific nuclear protein which is identified by
immunoreactivity with a monoclonal antibody, anti-NeuN. Anti-NeuN has been used widely …

The Rbfox family of RNA binding proteins regulates alternative splicing of many important
neuronal transcripts, but its role in neuronal physiology is not clear. We show here that …

Rbfox proteins control alternative splicing and posttranscriptional regulation in mammalian
brain and are implicated in neurological disease. These proteins recognize the RNA …