title: TorsinA, microtubules and cell polarity.
abstract: Early-onset primary dystonia is an inherited disorder characterized by involuntary twisting, repetitive movements and abnormal postures. It has recently been demonstrated that the DYT1 gene is the most relevant gene associated with primary generalized dystonia. The DYT1 gene product is a 332-aminoacid long protein, termed TorsinA, whose function is still not clear. Based on the results obtained in other species, we proposed that TorsinA, similarly to OOC-5 in nematodes, directs and/or stabilizes the subcellular localization of specific kinases, which may in turn phosphorylate microtubule associated proteins, such as tau. In this way, TorsinA may contribute to maintaining the appropriate site-directed polarization and control neurite outgrowth.
authors.affiliation: Department of Biomedical Sciences and Biotechnologies, University of Brescia Medical School, Brescia, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Ferrari Toninelli
authors.forename: PierFranco
authors.initials: P
authors.lastname: Spano
authors.forename: Maurizio
authors.initials: M
authors.lastname: Memo
mesh_terms: D000251:Adenosine Triphosphatases / Q000378:metabolism; D000818:Animals; D017173:Caenorhabditis elegans / Q000378:metabolism; D029742:Caenorhabditis elegans Proteins / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism*; D016764:Cell Polarity / Q000502:physiology*; D004330:Drosophila; D004421:Dystonia / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008869:Microtubule-Associated Proteins / Q000378:metabolism; D008870:Microtubules / Q000378:metabolism*; D018832:Molecular Chaperones; D009474:Neurons / Q000378:metabolism*; D017346:Protein Serine-Threonine Kinases / Q000378:metabolism; D016875:tau Proteins / Q000378:metabolism
chemical_list: D029742:Caenorhabditis elegans Proteins; D002352:Carrier Proteins; D008869:Microtubule-Associated Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human; D016875:tau Proteins; D017346:Protein Serine-Threonine Kinases; D000251:Adenosine Triphosphatases; C442329:OOC-5 protein, C elegans