Microtubule transport defects in neurological and ciliary disease.


Journal Article (Review)

Microtubules are primarily responsible for facilitating long-distance transport of both proteins and organelles. Given the critical role of this process in cellular function, it is not surprising that perturbation of microtubule-based transport can lead to diverse phenotypes in humans, including cancer and neurodegenerative disorders such as Alzheimer or Huntington disease. Recent investigations have also indicated that defects in specialized microtubule-based transport systems, such as mutations affecting the transport of protein particles along the length of cilia (intraflagellar transport) can cause retinal dystrophy, polycystic kidney disease or more complex syndromic phenotypes, such as Bardet-Biedl syndrome. In this review, we discuss recent findings implicating defects in microtubule-associated transport and motor proteins in a variety of diseases, particularly the role of defective microtubular transport in neurological and ciliary disease. These defects frequently display phenotypic consequences that manifest as human disease yet do not cause organismal lethality.

Full Text

Cited Authors

  • Gerdes, JM; Katsanis, N

Published Date

  • July 2005

Published In

Volume / Issue

  • 62 / 14

Start / End Page

  • 1556 - 1570

PubMed ID

  • 15924265

Pubmed Central ID

  • 15924265

International Standard Serial Number (ISSN)

  • 1420-682X

Digital Object Identifier (DOI)

  • 10.1007/s00018-005-5007-5


  • eng

Conference Location

  • Switzerland