Current Genetic Survey and Potential Gene-Targeting Therapeutics for Neuromuscular Diseases.

ABSTRACT: Neuromuscular diseases (NMDs) belong to a class of functional impairments that cause dysfunctions of the motor neuron-muscle functional axis components. Inherited monogenic neuromuscular disorders encompass both muscular dystrophies and motor neuron diseases. Understanding of their causative genetic defects and pathological genetic mechanisms has led to the unprecedented clinical translation of genetic therapies. Challenged by a broad range of gene defect types, researchers have developed different approaches to tackle mutations by hijacking the cellular gene expression machinery to minimize the mutational damage and produce the functional target proteins. Such manipulations may be directed to any point of the gene expression axis, such as classical gene augmentation, modulating premature

SUBMITTER: Chiu W 

PROVIDER: S-EPMC7767109 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature