Chapters authored
Structural and Functional Consequences of the SMA-Linked Missense Mutations of the Survival Motor Neuron Protein: A Brief Update
Genetically linked to the survival motor neuron 1 gene SMN1, spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with dysfunctional α-motor neurons. As the product of the SMN1 gene, the survival motor neuron protein (SMN) plays an essential role in the molecular pathogenesis of SMA. On 1 June 2017, a PLoS ONE article reported a set of computational structural analysis to illustrate how do SMA-linked mutations of SMN1 lead to structurally/functionally deficient variants of SMN. Following this article, this chapter provides a brief update of the structural and functional consequences of the missense mutations of this SMA protein.
Part of the book: Novel Aspects on Motor Neuron Disease