One of the most amazing findings in molecular biology was the discovery that eukaryotic
genes are discontinuous, with coding DNA being interrupted by stretches of non-coding …

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 …

Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive
inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the …

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 …

Purpose To determine feasibility and utility of newborn screening for spinal muscular
atrophy (SMA) in New York State. Methods We validated a multiplex TaqMan real-time …

At the post-transcriptional level, expression of protein-coding genes is controlled by a series
of RNA regulatory events including nuclear processing of primary transcripts, transport of …

The nuclear factor erythroid 2-like 2 (NFE2L2; NRF2) signaling pathway is frequently
deregulated in human cancers. The critical functions of NRF2, other than its transcriptional …

Although chaperone‐assisted protein crystallization remains a comparatively rare
undertaking, the number of crystal structures of polypeptides fused to maltose‐binding …

RNA splicing is the enzymatic process by which non-protein coding sequences are removed
from RNA to produce mature protein-coding mRNA. Splicing is thereby a major mediator of …

Highlights•Spinal muscular atrophy (SMA) is characterized by axonal and synaptic
defects.•SMN-complexes are actively transported in axons and to neuromuscular junctions …