Recent progress in understanding phosphorothioate antisense oligonucleotide (PS-ASO)
interactions with proteins has revealed that proteins play deterministic roles in the …

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused
by deletions or mutations in the survival motor neuron (SMN1) gene. SMA is characterized …

Background The clinical features of SMA, which range along a spectrum of severity, are
relatively well described. In contrast, the literature on how individuals with SMA and their …

Dysfunction of microRNA (miRNA) metabolism is thought to underlie diseases affecting
motoneurons. One miRNA, miR-218, is abundantly and selectively expressed by developing …

The conventional drug discovery pipeline has proven to be unsustainable for rare diseases.
Herein, we discuss recent advances in biomedical knowledge mining applied to discovering …

Pre-mRNA splicing, a key process in gene expression, can be therapeutically modulated
using various drug modalities, including antisense oligonucleotides (ASOs). However …

Spinal muscular atrophy (SMA) is the most common genetically inherited neurodegenerative
disease resulting in infant mortality. SMA is caused by genetic deletion or mutation in the …

Background This qualitative study examined how individuals with Spinal Muscular Atrophy
(SMA), their caregivers, and clinicians defined meaningful change, primarily in the Type II …

Abstract The Spinal Muscular Atrophy (SMA) gene SMN was recently duplicated (SMN1 and
SMN2) in higher primates. Furthermore, invasion of the locus by repetitive elements almost …

Spinal muscular atrophy (SMA) is a common devastating neuromuscular disorder, usually
involving homozygous deletion of the SMN1 gene. Newly developed drugs can improve the …