Spinal muscular atrophy (SMA) is one of the major genetic disorders associated with infant
mortality. More than 90% cases of SMA result from deletions or mutations of Survival Motor …

To characterize protein–RNA recognition at the molecular level, structural biology has
turned out to be an indispensable approach. Detailed and direct insights into the mechanism …

Splicing modifiers promoting SMN2 exon 7 inclusion have the potential to treat spinal
muscular atrophy, the leading genetic cause of infantile death. These small molecules are …

survival of motor neuron 2, centromeric (SMN2) is a gene that modifies the severity of spinal
muscular atrophy (SMA), a motor-neuron disease that is the leading genetic cause of infant …

Spinal muscular atrophy (SMA) is a relatively common neurodegenerative disease caused
by homozygous loss of the survival motor neuron 1 (SMN1) gene. Humans possess a linked …

Humans have two nearly identical copies of the Survival Motor Neuron (SMN) gene, SMN1
and SMN2. In spinal muscular atrophy (SMA), SMN2 is not able to compensate for the loss …

Gene fusions and their products (RNA and protein) were once thought to be unique features
to cancer. However, chimeric RNAs can also be found in normal cells. Here, we performed …

Spinal muscular atrophy is a neurodegenerative disorder caused by the deletion or mutation
of the survival-of-motor-neuron gene, SMN1. An SMN1 paralog, SMN2, differs by a C→ T …

Proximal spinal muscular atrophy (SMA) is a common neuromuscular disorder causing
infant death in half of all patients. Homozygous absence of the survival motor neuron gene …

Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by mutation of
the telomeric copy of the survival motor neuron gene (SMN1). Although a centromeric copy …