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ludc web

Lena Eliasson

Principal investigator

ludc web

A dominant mutation in Snap25 causes impaired vesicle trafficking, sensorimotor gating, and ataxia in the blind-drunk mouse

Author

  • Alexander F. Jeans
  • Peter L. Oliver
  • Reuben Johnson
  • Marco Capogna
  • Jenny Vikman
  • Zoltan Molnar
  • Arran Babbs
  • Christopher J. Partridge
  • Albert Salehi
  • Martin Bengtsson
  • Lena Eliasson
  • Patrik Rorsman
  • Kay E. Davies

Summary, in English

The neuronal soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) complex is essential for synaptic vesicle exocytosis, but its study has been limited by the neonatal lethality of murine SNARE knockouts. Here, we describe a viable mouse line carrying a mutation in the b-isoform of neuronal SNARE synaptosomal-associated protein of 25 kDa (SNAP-25) The causative I67T missense mutation results in increased binding affinities within the SNARE complex, impaired exocytotic vesicle recycling and granule exocytosis in pancreatic beta-cells, and a reduction in the amplitude of evoked cortical excitatory postsynaptic potentials. The mice also display ataxia and impaired sensorimotor gating, a phenotype which has been associated with psychiatric disorders in humans. These studies therefore provide insights into the role of the SNARE complex in both diabetes and psychiatric disease.

Department/s

  • Department of Clinical Sciences, Malmö

Publishing year

2007

Language

English

Pages

2431-2436

Publication/Series

Proceedings of the National Academy of Sciences

Volume

104

Issue

7

Document type

Journal article

Publisher

National Acad Sciences

Topic

  • Endocrinology and Diabetes

Keywords

  • attachment protein receptor
  • soluble N-ethylmaleimide-sensitive factor
  • diabetes
  • mutagenesis
  • exocytosis
  • schizophrenia

Status

Published

ISBN/ISSN/Other

  • ISSN: 1091-6490