title: Microtubule transport defects in neurological and ciliary disease.
abstract: 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.
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, John Hopkins University, 533 Broadway Research Building, 733 N. Broadway, Baltimore, Maryland 21205, USA.
authors.forename: J M
authors.initials: JM
authors.lastname: Gerdes
authors.forename: N
authors.initials: N
authors.lastname: Katsanis
mesh_terms: D001692:Biological Transport; D002925:Ciliary Motility Disorders / Q000378:metabolism*; D004398:Dyneins / Q000378:metabolism; D006801:Humans; D016547:Kinesins / Q000378:metabolism; D008869:Microtubule-Associated Proteins / Q000378:metabolism; D008870:Microtubules / Q000378:metabolism*; D008954:Models, Biological; D009422:Nervous System Diseases / Q000378:metabolism*
chemical_list: D008869:Microtubule-Associated Proteins; D004398:Dyneins; D016547:Kinesins