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The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.
Finelli MJ, Aprile D, Castroflorio E, Jeans A, Moschetta M, Chessum L, Degiacomi MT, Grasegger J, Lupien-Meilleur A, Bassett A, Rossignol E, Campeau PM, Bowl MR, Benfenati F, Fassio A, Oliver PL. Finelli MJ, et al. Among authors: oliver pl. Hum Mol Genet. 2019 Feb 15;28(4):584-597. doi: 10.1093/hmg/ddy370. Hum Mol Genet. 2019. PMID: 30335140 Free PMC article.
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: oliver pl. 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.
90 results