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New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.

Ben-Salem S, Nara S, Al-Shamsi AM, Valle D, Ali BR, Al-Gazali L.

J Dermatol. 2015 Aug;42(8):821-2. doi: 10.1111/1346-8138.12917. Epub 2015 May 11. No abstract available.


Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarski E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, Jerome-Majewska LA.

J Med Genet. 2013 Feb;50(2):80-90. doi: 10.1136/jmedgenet-2012-101320. Epub 2012 Dec 11.


CEDNIK syndrome results from loss-of-function mutations in SNAP29.

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.

Br J Dermatol. 2011 Mar;164(3):610-6. doi: 10.1111/j.1365-2133.2010.10133.x. Epub 2011 Feb 17.


Loss of SNAP29 impairs endocytic recycling and cell motility.

Rapaport D, Lugassy Y, Sprecher E, Horowitz M.

PLoS One. 2010 Mar 18;5(3):e9759. doi: 10.1371/journal.pone.0009759.


[Genetic analysis of genitourinary malformations].

Zhang JS, Fu Y, Zhao YH, Li F, Qian AL, Wu B, Li-Ling J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Apr;26(2):134-8. doi: 10.3760/cma.j.issn.1003-9406.2009.02.003. Chinese.


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.

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.

Am J Hum Genet. 2005 Aug;77(2):242-51. Epub 2005 Jun 20.


SNAP-29 is a promiscuous syntaxin-binding SNARE.

Hohenstein AC, Roche PA.

Biochem Biophys Res Commun. 2001 Jul 13;285(2):167-71.


Polymorphism in SNAP29 gene promoter region associated with schizophrenia.

Saito T, Guan F, Papolos DF, Rajouria N, Fann CS, Lachman HM.

Mol Psychiatry. 2001 Mar;6(2):193-201. Erratum in: Mol Psychiatry 2001 Sep;6(5):605.


NEK3-mediated SNAP29 phosphorylation modulates its membrane association and SNARE fusion dependent processes.

Rapaport D, Fichtman B, Weidberg H, Sprecher E, Horowitz M.

Biochem Biophys Res Commun. 2018 Mar 4;497(2):605-611. doi: 10.1016/j.bbrc.2018.02.116. Epub 2018 Feb 15.


SNAP-29-mediated modulation of synaptic transmission in cultured hippocampal neurons.

Pan PY, Cai Q, Lin L, Lu PH, Duan S, Sheng ZH.

J Biol Chem. 2005 Jul 8;280(27):25769-79. Epub 2005 May 12.


GS32, a novel Golgi SNARE of 32 kDa, interacts preferentially with syntaxin 6.

Wong SH, Xu Y, Zhang T, Griffiths G, Lowe SL, Subramaniam VN, Seow KT, Hong W.

Mol Biol Cell. 1999 Jan;10(1):119-34.


SNAP-29: a general SNARE protein that inhibits SNARE disassembly and is implicated in synaptic transmission.

Su Q, Mochida S, Tian JH, Mehta R, Sheng ZH.

Proc Natl Acad Sci U S A. 2001 Nov 20;98(24):14038-43. Epub 2001 Nov 13.


O-GlcNAc-modification of SNAP-29 regulates autophagosome maturation.

Guo B, Liang Q, Li L, Hu Z, Wu F, Zhang P, Ma Y, Zhao B, Kovács AL, Zhang Z, Feng D, Chen S, Zhang H.

Nat Cell Biol. 2014 Dec;16(12):1215-26. doi: 10.1038/ncb3066. Epub 2014 Nov 24.


SNAREs contribute to the specificity of membrane fusion.

Scales SJ, Chen YA, Yoo BY, Patel SM, Doung YC, Scheller RH.

Neuron. 2000 May;26(2):457-64.


Mutually exclusive interactions of EHD1 with GS32 and syndapin II.

Xu Y, Shi H, Wei S, Wong SH, Hong W.

Mol Membr Biol. 2004 Jul-Aug;21(4):269-77.


ATG14 promotes membrane tethering and fusion of autophagosomes to endolysosomes.

Diao J, Liu R, Rong Y, Zhao M, Zhang J, Lai Y, Zhou Q, Wilz LM, Li J, Vivona S, Pfuetzner RA, Brunger AT, Zhong Q.

Nature. 2015 Apr 23;520(7548):563-6. doi: 10.1038/nature14147. Epub 2015 Feb 9.


The IAP family member BRUCE regulates autophagosome-lysosome fusion.

Ebner P, Poetsch I, Deszcz L, Hoffmann T, Zuber J, Ikeda F.

Nat Commun. 2018 Feb 9;9(1):599. doi: 10.1038/s41467-018-02823-x.


The Q-soluble N-Ethylmaleimide-sensitive Factor Attachment Protein Receptor (Q-SNARE) SNAP-47 Regulates Trafficking of Selected Vesicle-associated Membrane Proteins (VAMPs).

Kuster A, Nola S, Dingli F, Vacca B, Gauchy C, Beaujouan JC, Nunez M, Moncion T, Loew D, Formstecher E, Galli T, Proux-Gillardeaux V.

J Biol Chem. 2015 Nov 20;290(47):28056-69. doi: 10.1074/jbc.M115.666362. Epub 2015 Sep 10.


An essential step of kinetochore formation controlled by the SNARE protein Snap29.

Morelli E, Mastrodonato V, Beznoussenko GV, Mironov AA, Tognon E, Vaccari T.

EMBO J. 2016 Oct 17;35(20):2223-2237. Epub 2016 Sep 19.


The hairpin-type tail-anchored SNARE syntaxin 17 targets to autophagosomes for fusion with endosomes/lysosomes.

Itakura E, Kishi-Itakura C, Mizushima N.

Cell. 2012 Dec 7;151(6):1256-69. doi: 10.1016/j.cell.2012.11.001.

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