Deep learning analyses of splicing variants identify the link of PCP4 with amyotrophic lateral sclerosis

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a severe motor neuron disease, with most sporadic cases lacking clear genetic causes. Abnormal pre-mRNA splicing is a fundamental mechanism in neurodegenerative diseases. For example, TAR DNA-binding protein 43 (TDP-43) loss of function causes widespread RNA mis-splicing events in ALS. Additionally, splicing mutations are major contributors to neurological disorders....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amyotrophic Lateral Sclerosis Research
• Share to Neurogenetic and Muscular Disorders Research
• Share to RNA Research and Splicing