Background Major efforts have been made in the last decade to develop and improve
therapies for proximal spinal muscular atrophy (SMA). The introduction of …

Abstract Models are practical tools with which to establish the basic aspects of a diseases.
They allow systematic research into the significance of mutations, of cellular and molecular …

The activity of the SMN complex in promoting the assembly of pre-mRNA processing
UsnRNPs correlates with condensation of the complex in nuclear Cajal bodies. While …

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal
recessive neuromuscular disorder caused by mutations in the IGHMBP2 gene, which …

Peripheral diabetic neuropathy (PDN) is one of the most common complications of diabetes
mellitus. Previous studies showed an association between dietary iron load and …

Background Iron is an essential but potentially toxic metal in mammals. Here we
investigated a pathogenic role of exogenous iron in peripheral diabetic neuropathy (PDN) in …

Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the
CLN3 gene is the most prevalent inherited neurodegenerative disease in childhood …

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an autosomal
recessive disease occurring during childhood. The gene responsible for disease …

Diabetic neuropathy (DNP), afflicting sensory and motor nerve fibers, is a major complication
in diabetes. The underlying cellular mechanisms of axon degeneration are poorly …

Isolated generalized dystonia is a central motor network disorder characterized by twisted
movements or postures. The most frequent genetic cause is a GAG deletion in the Tor1a …