The path from gene discovery to therapy in spinal muscular atrophy (SMA) has been a
highly challenging endeavor, but also led to one of the most successful stories in …

Abstract The multifunctional Survival Motor Neuron (SMN) protein is required for the survival
of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism …

Alternative splicing of pre-mRNA increases genetic diversity, and recent studies estimate
that most human multiexon genes are alternatively spliced. If this process is not highly …

Ever since loss of survival motor neuron (SMN) protein was identified as the direct cause of
the childhood inherited neurodegenerative disorder spinal muscular atrophy, significant …

Spinal muscular atrophy (SMA) is a debilitating neuromuscular disease caused by the loss
of survival of motor neuron (SMN) protein. Previously, we demonstrated that ISIS 396443, an …

The therapeutic pathways that modulate transcription mechanisms currently include gene
knockdown and splicing modulation. However, additional mechanisms may come into play …

To better understand human health and disease, researchers create a wide variety of mouse
models that carry human DNA. With recent advances in genome engineering, the targeted …

Motor neuron diseases (MNDs) are an etiologically heterogeneous group of disorders of
neurodegenerative origin, which result in degeneration of lower (LMNs) and/or upper motor …

Spinal muscular atrophy (SMA) is a genetic disorder caused by the deletion of the survival
motor neuron 1 (SMN1) gene that leads to loss of motor neurons in the spinal cord. Although …

Motor neuron diseases (MNDs) are characterized by selective death of motor neurons and
include mainly adult-onset amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy …