Off the rails: axonal cargoes on the road to nowhere

EMBO J. 2013 May 15;32(10):1345-7. doi: 10.1038/emboj.2013.92. Epub 2013 Apr 23.

Abstract

EMBO J (2013) 32 10, 1352–1364. doi:; DOI: 10.1038/emboj.2013.59

The importance of the microtubule cytoskeleton for neuronal development, organization and maintenance is reflected in the finding that mutations in various tubulin genes cause a range of nervous system abnormalities. Mutations in the β-tubulin isotype-III gene, TUBB3, alter the interaction between microtubules and motor proteins leading to neurological impairments. Niwa et al (2013) now report that TUBB3 mutations lead to neuronal defects by impairing axonal transport.

Publication types

  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Axonal Transport / genetics*
  • Humans
  • Mutation*
  • Peripheral Nervous System Diseases / genetics*
  • Tubulin / genetics*
  • Tubulin / metabolism*

Substances

  • Tubulin