Splicing regulation in neurologic disease

Neuron. 2006 Oct 5;52(1):93-101. doi: 10.1016/j.neuron.2006.09.017.


The importance of alternative splicing in the regulation of diverse biological processes is reflected in the growing list of human diseases associated with known or suspected splicing defects. It is becoming evident that alternative splicing plays a particularly important role in neurologic disease, which is perhaps not surprising given the important role splicing plays in generating complexity and function in the brain. This review considers the evidence that defects in regulation of splicing may underlie many types of human neurologic diseases.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Brain / pathology
  • Brain / physiopathology*
  • Humans
  • Models, Molecular
  • Nervous System Diseases / genetics*
  • RNA Splicing / physiology*