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A dominant mutation in Snap25 causes impaired vesicle trafficking, sensorimotor gating, and ataxia in the blind-drunk mouse.
Jeans AF, Oliver PL, Johnson R, Capogna M, Vikman J, Molnár Z, Babbs A, Partridge CJ, Salehi A, Bengtsson M, Eliasson L, Rorsman P, Davies KE. Jeans AF, et al. Among authors: partridge cj. Proc Natl Acad Sci U S A. 2007 Feb 13;104(7):2431-6. doi: 10.1073/pnas.0610222104. Epub 2007 Feb 5. Proc Natl Acad Sci U S A. 2007. PMID: 17283335 Free PMC article.
CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease.
Reed AA, Loh NY, Terryn S, Lippiat JD, Partridge C, Galvanovskis J, Williams SE, Jouret F, Wu FT, Courtoy PJ, Nesbit MA, Rorsman P, Devuyst O, Ashcroft FM, Thakker RV. Reed AA, et al. Am J Physiol Renal Physiol. 2010 Feb;298(2):F365-80. doi: 10.1152/ajprenal.00038.2009. Epub 2009 Nov 25. Am J Physiol Renal Physiol. 2010. PMID: 19940036 Free PMC article.
27 results