1 | CEDNIK, SNAP29
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| Multiple functions of the SNARE protein Snap29 in autophagy, endocytic, and exocytic trafficking during epithelial formation in Drosophila.
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| Morelli E, Ginefra P, Mastrodonato V, Beznoussenko GV, Rusten TE, Bilder D, Stenmark H, Mironov AA, Vaccari T.
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| Autophagy 10(12):2251-68. doi: 10.4161/15548627.2014.981913.
2014
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2 | CEDNIK, SNAP29
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| CEDNIK syndrome results from loss-of-function mutations in SNAP29.
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| Fuchs-Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, Lugassy Y, Emmert S, Eckl K, Hennies HC, Sarig O, Goldsher D, Meilik B, Ishida-Yamamoto A, Horowitz M, Sprecher E.
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| Br J Dermatol 164(3):610-6. doi: 10.1111/j.1365-2133.2010.10133.x. Epub 2011 Feb 17.
2011
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3 | CEDNIK, SNAP29
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| Loss of SNAP29 impairs endocytic recycling and cell motility.
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| Rapaport D, Lugassy Y, Sprecher E, Horowitz M.
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| PLoS One 5(3):e9759.PMID: 20305790 2010
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4 | CEDNIK, SNAP29
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| A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma.
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| Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, Topaz O, Chefetz I, Keren H, O'brien TJ, Bercovich D, Shalev S, Geiger D, Bergman R, Horowitz M, Mandel H.
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| Am J Hum Genet 77(2):242-51. Epub 2005 Jun 20. 2005
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