Current understanding of microRNA (miRNA) biology is limited, and antisense oligonucleotide
(ASO) inhibition of miRNAs is a powerful technique for their functionalization. To uncover …

Alternative splicing (AS) of pre-mRNA is utilized by higher eukaryotes to achieve increased
transcriptome and proteomic complexity. The serine/arginine (SR) splicing factors regulate …

Background Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that
is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an …

Dramatic advances in understanding of the roles RNA plays in normal health and disease
have greatly expanded over the past 10 years and have made it clear that scientists are only …

We used cross-linking and immunoprecipitation coupled with high-throughput sequencing
to identify binding sites in 6,304 genes as the brain RNA targets for TDP-43, an RNA binding …

Background Nusinersen is a 2′-O-methoxyethyl phosphorothioate-modified antisense drug
being developed to treat spinal muscular atrophy. Nusinersen is specifically designed to …

MicroRNAs (miRNAs) are endogenously expressed 20-24 nucleotide RNAs thought to
repress protein translation through binding to a target mRNA (1-3). Only a few of the more than …

A hexanucleotide GGGGCC repeat expansion in the noncoding region of the C9ORF72
gene is the most common genetic abnormality in familial and sporadic amyotrophic lateral …

Background Nusinersen is an antisense oligonucleotide drug that modulates pre–messenger
RNA splicing of the survival motor neuron 2 (SMN2) gene. It has been developed for the …

Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of
infant mortality; it results from loss-of-function mutations in the survival motor neuron 1 (SMN1…