Role of the proteins SMN and FUS in Nucleolar Homeostasis

Spinal Muscular Atrophy (SMA) is a debilitating autosomal recessive neuromuscular disorder characterized by the degeneration of motoneurons, leading to severe motor impairments. The disease arises from bi-allelic mutations in the SMN1 gene, which encodes the Survival of Motor Neuron (SMN) protein. Children affected by SMA confront challenges in essential motor functions such as crawling, walking, breathing, and swallowing.
The SMN protein, traditionally known for its pivotal role in RNA processing and splicing, has recently emerged as a multifaceted participant in various cellular processes.