| 1 | EPM6A, GOSR2
|
| Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy.
|
| Jepson JEC, Praschberger R, Krishnakumar SS.
|
| Neuroscience Nov 10;420:41-49. doi: 10.1016/j.neuroscience.2019.03.057. Epub 2019 Apr 4 2019
|
| 2 | EPM6A, GOSR2, LGMD2S, TRAPPC11
|
| TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
|
| Larson AA, Baker PR 2nd, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA.
|
| Skelet Muscle. May 31;8(1):17. doi: 10.1186/s13395-018-0163-0. 2018
|
| 3 | GOSR2
|
| Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity.
|
| Praschberger R, Lowe SA, Malintan NT, Giachello CNG, Patel N, Houlden H, Kullmann DM, Baines RA, Usowicz MM, Krishnakumar SS, Hodge JJL, Rothman JE, Jepson JEC.
|
| Cell Rep. Oct 3;21(1):97-109. doi: 10.1016/j.celrep.2017.09.004 2017
|
| 4 | EPM6A, GOSR2
|
| GOSR2: a progressive myoclonus epilepsy gene.
|
| Dibbens LM, Rubboli G.
|
| Epileptic Disord. Sep 1;18(S2):111-114. doi: 10.1684/epd.2016.0848 2016
|
| 5 | EPM6A, GOSR2
|
| Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
|
| van Egmond ME, Verschuuren-Bemelmans CC, Nibbeling EA, Elting JW, Sival DA, Brouwer OF, de Vries JJ, Kremer HP, Sinke RJ, Tijssen MA, de Koning TJ.
|
| Mov Disord. Jan;29(1):139-43. doi: 10.1002/mds.25704. Epub 2013 Oct 30. 2014
|
| 6 | EPM6A, GOSR2
|
| A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
|
| Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF.
|
| Am J Hum Genet 88(5):657-63. Epub 2011 May 5.
2011
|
| 7 | GOSR2
|
| GOSR2 Lys67Arg is associated with hypertension in whites.
|
| Meyer TE, Shiffman D, Morrison AC, Rowland CM, Louie JZ, Bare LA, Ross DA, Arellano AR, Chasman DI, Ridker PM, Pankow JS, Coresh J, Malloy MJ, Kane JP, Ellis SG, Devlin JJ, Boerwinkle E.
|
| Am J Hypertens 22(2):163-8. Epub 2008 Dec 4.
2009
|
| 8 | BTD, C2CD4A, C7orf50, C7orf58, CPSF4, CXorf40B, DBNDD1, DBNDD2, GOSR2, HEATR2, ITM2C, LIG3, MARVELD3, PIGN, S100A13, TCEAL1, WARS2
|
| Transcriptome analysis of human gastric cancer.
|
| Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS, Noh SM, Kim S, Yoo HS, Kim YS, Kim NS.
|
| Mamm Genome 16(12):942-54. Epub 2005 Dec 8. 2005
|
| 9 | ARF1, GOSR2
|
| Targeting of Arf-1 to the early Golgi by membrin, an ER-Golgi SNARE.
|
| Honda A, Al-Awar OS, Hay JC, Donaldson JG.
|
| J Cell Biol 168(7):1039-51. Epub 2005 Mar 21. 2005
|
| 10 | GOSR1, GOSR2
|
| cDNA characterization and chromosomal mapping of human golgi SNARE GS27 and GS28 to chromosome 17.
|
| Bui TD, et al.
|
| Genomics 57(2):285-8 1999
|
| 11 | GOSR2
|
| A SNARE involved in protein transport through the Golgi apparatus.
|
| Lowe SL, et al.
|
| Nature 389(6653):881-4 1997
|
| 12 | GOSR1, GOSR2
|
| Each domain of the N-ethylmaleimide-sensitive fusion protein contributes to its transport activity.
|
| Nagiec EE, et al.
|
| J Biol Chem 270(49):29182-8 1995
|