TorsinA, microtubules and cell polarity

Giulia Ferrari Toninelli, PierFranco F. Spano, Maurizio Memo

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)7-10
Number of pages4
JournalFunctional Neurology
Volume18
Issue number1
Publication statusPublished - Jan 2003

Keywords

  • Drosophila
  • Dystonia
  • Nematodes
  • Neuron
  • Tau proteins

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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