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A dominant mutation...
A dominant mutation in Snap25 causes impaired vesicle trafficking, sensorimotor gating, and ataxia in the blind-drunk mouse
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Jeans, Alexander F. (author)
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Oliver, Peter L. (author)
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Johnson, Reuben (author)
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Capogna, Marco (author)
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Vikman, Jenny (author)
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Molnar, Zoltan (author)
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Babbs, Arran (author)
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Partridge, Christopher J. (author)
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Salehi, Albert (author)
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- Bengtsson, Martin (author)
- Lund University,Lunds universitet,Islet cell physiology,Forskargrupper vid Lunds universitet,Lund University Research Groups
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- Eliasson, Lena (author)
- Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine
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Rorsman, Patrik (author)
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Davies, Kay E. (author)
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(creator_code:org_t)
- 2007-02-13
- 2007
- English.
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In: Proceedings of the National Academy of Sciences. - : Proceedings of the National Academy of Sciences. - 1091-6490 .- 0027-8424. ; 104:7, s. 2431-2436
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Keyword
- attachment protein receptor
- soluble N-ethylmaleimide-sensitive factor
- diabetes
- mutagenesis
- exocytosis
- schizophrenia
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Jeans, Alexander ...
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Oliver, Peter L.
-
Johnson, Reuben
-
Capogna, Marco
-
Vikman, Jenny
-
Molnar, Zoltan
-
show more...
-
Babbs, Arran
-
Partridge, Chris ...
-
Salehi, Albert
-
Bengtsson, Marti ...
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Eliasson, Lena
-
Rorsman, Patrik
-
Davies, Kay E.
-
show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
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Proceedings of t ...
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Lund University